Correspondence
Preserved retinal sensitivity following spontaneous regression of soft drusen
Soft drusen are the clinical hallmark of intermediate age-related macular degeneration (AMD) and a major risk factor for late-stage disease. Soft drusen usually increase in size, area, and confluence with aging.1 Their natural life cycle may involve retinal pigment epithelium (RPE) changes, collapse, and macular atrophy or spontaneous regression.2 Pharmacologic and laser photocoagulation treatments intended to induce drusen regression have yet to show visual benefit.1,3 Early treatment of intermediate AMD before progression to macular atrophy and/or neovascular complications is an area undergoing intense study and would be a breakthrough.Symptomatic iris varix with enlargement following argon laser
Iris varix is a rare iris lesion that may be mistaken for a malignant neoplasm.1 Thirty-six cases have been described since 1975, most treated by resection without recurrence, although spontaneous regression has been reported.2 Most varices have been described as large, lobulated, well-circumscribed black or red lesions of the iris that may be associated with spontaneous hemorrhage, although smaller varices have been described as prominent, elongated, and tortuous vessels.2,3 Although benign, iris varices may be of sufficiently suspicious appearance as to warrant a detailed work-up to exclude other etiologies such as hemangiomas or melanomas.Intraocular pressure fluctuations in a professional woodwind musician with advanced glaucoma
Ocular hypertension and fluctuations in intraocular pressure (IOP) are critical modifiable risk factors for the development and progression of glaucoma. Transient IOP elevations while playing wind instruments have been observed in musicians with1 and without2,3 glaucoma. However, the comparative effect of trabeculectomy surgery on IOP fluctuations during wind instrument performance has not been previously described.Ischemic cranial nerve 6 palsy and lipemia retinalis in a patient with hypertriglyceridemia
Severe hypertriglyceridemia can occur as a primary (genetic) disorder or secondary to diabetes mellitus, hypothyroidism, alcohol use, or medications. Ophthalmic signs of hypertriglyceridemia include xanthomas, xanthelasmas, and corneal arcus.1 However, atypical presentations also can occur. Prior case reports describe presenting symptoms of intermittent vision loss due to associated hypertensive retinopathy or blurry vision from secondary central serous chorioretinopathy or branch retinal vein occlusion.Superior limbic keratoconjunctivitis following ptosis repair
Superior limbic keratoconjunctivitis (SLK) is an inflammatory condition of the superior bulbar conjunctiva, tarsal conjunctiva, and upper cornea of unknown etiology. The pathogenesis of SLK is unclear, although it has been linked to mechanical microtrauma, deficiencies in tear film quality, and immunologic dysregulation.1Meningococcal B vaccine-associated papillophlebitis and cilioretinal artery occlusion
Vaccine-induced optic neuritis is a known subtype of optic neuritis that has been reported following the administration of various types of vaccines, both viral and bacterial. Ocular symptoms vary significantly and can result in permanent vision loss. There has been only one case of optic neuritis following meningococcal B vaccine (Bexsero; GlaxoSmithKline, London, UK) administration that was reported on the Vaccine Adverse Event Reporting System (2016, VAERS ID 686394), but the details of the event are not thoroughly explained.Marjorin ulcer (squamous cell carcinoma) in a temporal artery biopsy wound
It is well recognized that postoperative and traumatic wounds and scars are susceptible to malignant degeneration, most commonly to squamous cell carcinoma (SCC).1 This phenomenon can occur months to decades after the inciting trauma.1 We describe a case arising from a temporal artery biopsy (TAB) site, demonstrating the importance of considering skin malignancy in any nonhealing incision. Informed consent for publication of this patient's case was obtained, adhering to the Declaration of Helsinki principles.Ultra-wide-field retinal imaging in tetralogy of Fallot before and after cardiac surgery
Congenital heart disease can be classified physiologically into 3 categories: volume overload, cyanotic, and obstructive. Cyanotic congenital heart disease (cCHD) includes lesions with right-to-left shunts or mixing abnormalities (e.g., transposition of the great vessels, persistent truncus arteriosus, tetralogy of Fallot).1 Tetralogy of Fallot (ToF) encompasses a variety of anatomic abnormalities, including a large and unrestrictive ventricular septal defect, right ventricular outflow tract obstruction, overriding of the aorta, and right ventricular hypertrophy.Traumatic direct carotid cavernous fistula following partial maxillectomy
Carotid cavernous fistula (CCF) is a rare traumatic complication that can occur following iatrogenic interventions.1 We report a case of direct CCF (type A) developing following partial maxillectomy with the Le Fort I approach. This case report adheres to the ethical principles outlined in the Declaration of Helsinki as amended in 2013.Acute retinal necrosis from herpes simplex virus type 2: a case series
Acute retinal necrosis (ARN) is a potentially blinding condition characterized by rapidly progressive peripheral retinal necrosis with occlusive vasculopathy and prominent inflammatory reaction.1,2 Identification of a viral etiology can be done with polymerase chain reaction (PCR) testing of intraocular fluid, and prompt management is necessary to preserve vision. ARN caused by herpes simplex virus 2 (HSV-2) is rare, and our understanding is based on a few small case series.3 Here we present three cases of HSV-2 ARN in immunocompetent hosts with a prolonged clinical course of systemic and intravitreal antivirals.Delayed-onset abducens nerve palsy following parafalcine meningioma complicated by subdural hematoma
Meningiomas are slow-growing, benign brain tumors accounting for approximately 20% of primary intracranial masses.1 They may remain asymptomatic for long periods of time and can present with headaches, seizures, and other more site-specific symptoms. Although they are highly vascular structures, meningiomas do not typically produce subdural hematoma (SDH).2 Only 38 cases of meningioma associated with acute SDH have been reported in the English literature.1 We report a delayed-onset abducens nerve palsy due to an SDH associated with a parafalcine meningioma.Migratory orbital inflammation in rheumatoid arthritis
Orbital inflammatory disease is associated with several etiologies.1 Ocular manifestations of rheumatoid arthritis (RA), such as keratoconjunctivitis sicca, have previously been noted in the literature;2,3 however, migratory orbital inflammation is rare.Use of ripasudil for rapid resolution of acute hydrops in keratoconus
Acute corneal hydrops (CH) is characterized by marked stromal edema from the influx of aqueous humour through a tear in Descemet membrane.1 It is predominantly seen in patients with corneal ectasia and reported in up to 3% of patients with keratoconus.1,2 CH presents with an acute decrease in visual acuity, photophobia, and pain.1 Conservative management of CH includes topical hypertonic saline solution, cycloplegics, topical corticosteroids, topical antibiotics, and a bandage soft contact lens if needed for comfort.Unilateral vision loss in a patient with essential thrombocythemia
Essential thrombocythemia is a chronic myeloproliferative neoplasm that develops when megakaryocytes in the bone marrow produce an excess number of platelets.1 This chronic hematologic disorder is associated with a number of thrombotic and embolic complications, and prior cases of vision loss have been documented.1–6 We describe a rather unique case of essential thrombocythemia presenting with unilateral vision loss in a patient.Cotton-wool spots in patients with migraine
Cotton-wool spots (CWSs) refer to localized accumulations of axoplasmic debris in the retinal nerve fibre layer that result from interruption of ganglion cell axon organelle transport.1 The histologic hallmark is the cytoid body, which represents the terminal swelling of a disrupted ganglion cell axon that has expanded and accumulated mitochondria and other organelles and subcellular material.1 In an otherwise healthy person, even a single CWS is considered abnormal, and it is recommended that investigations for underlying systemic disease be initiated.Treatment of an orbital pseudomeningocele through an eyelid incision
Pseudomeningoceles (PMs) occur from extravasation of cerebrospinal fluid (CSF) into soft tissue secondary to a dural tear.1–3 Unlike a true meningocele, which is lined by arachnoid tissue, PMs are associated with the formation of a fibrous capsule.2 Although PMs can form due to surgical insults to the dural covering of the brain or spine, they can also occur secondary to trauma or congenital abnormalities.1,2 Clinical symptoms usually arise when there is mass effect on the surrounding structures.Experiences from a national webinar with recently matched Canadian ophthalmology residents for medical students
Canadian medical students interested in ophthalmology must participate in the Canadian Residency Matching Service (CaRMS) R-1 match,1 where they are assessed based on their academic and extracurricular profile (such as medical school performance record, custom résumés, volunteerism, leadership, research, reference letters, personal letters, and interviews) before they enter residency training. The most recent residency application cycle, completed in April 2021, brought medical students unique challenges secondary to the coronavirus disease 2019 (COVID-19) pandemic, such as canceled visiting electives, virtual interviews, limited clinical exposure, and limited in-person interaction with program faculty and residents.Use of topical allogenic fresh-frozen plasma drops in the treatment of ligneous conjunctivitis
Ligneous conjunctivitis is a rare inflammatory condition characterized by chronic and recurrent deposition of fibrin-rich pseudomembranes on the palpebral conjunctiva.1 Firm membranes with a characteristic ‘woody’ induration usually occur bilaterally presenting since childhood.1,2 The formation of fibrinous pseudomembranes is caused by a mutation in the PLG gene, leading to deficient levels of type 1 plasminogen.1 Plasminogen is a precursor of plasmin, a molecule involved in the degradation of fibrin.Varicella-zoster virus-induced orbital apex syndrome with superior ophthalmic vein occlusion and malignant intraocular pressure rise
Orbital apex syndrome from varicella-zoster virus (VZV) is extremely rare, and approximately 20 patients worldwide have been reported with this condition.1 We report a patient with VZV-associated orbital apex syndrome and unusual malignant intraocular pressure rise from superior ophthalmic vein (SOV) thrombosis.Intravenous tocilizumab in the treatment of resistant optic perineuritis
Optic perineuritis (OPN) is a rare orbital inflammatory disease that mainly involves the optic nerve sheath and surrounding tissues. It is accompanied by eye pain and various levels of optic nerve dysfunction, such as decreased vision, visual field defect, and positive afferent pupillary defect. In contrast to optic neuritis, OPN is not a self-limited disease and always requires treatment.1Retinal pigment epithelium apertures associated with subretinal fluid and acquired vitellifom lesions in non-neovascular age-related macular degeneration
Classic features of non-neovascular age-related macular degeneration (AMD) include drusen, drusenoid retinal pigment epithelial (RPE) detachment, and RPE atrophy. More recent studies have shown that intra- and subretinal fluid also may complicate the non-neovascular form of AMD.1Importance of correlating radiohistopathologic features in lacrimal gland pleomorphic adenoma
Lacrimal gland pleomorphic adenoma (LGPA) is a common benign epithelial tumour of the lacrimal gland that frequently appears on imaging as a well-circumscribed lesion with no bony erosion.1 In some cases, it can present with atypical radiologic features and then needs to be correlated with histopathologic findings to ascertain a diagnosis.Corneal limbal xanthogranuloma in Erdheim-Chester disease
Adult orbital xanthogranulomatous disease is a rare non-Langerhans cell histiocytic condition with 4 clinical subtypes: adult‐onset xanthogranuloma, adult‐onset asthma with periocular xanthogranuloma, necrobiotic xanthogranuloma (NBX), and Erdheim–Chester disease (ECD). We report, to our knowledge, the first case of ECD with limbal infiltration.Uveal melanoma presenting as panophthalmitis in the absence of an intraocular mass
Uveal melanoma is the most common primary intraocular malignancy in adults, with 90% of cases originating from the choroid. While many patients are asymptomatic and the tumour is often diagnosed incidentally on routine eye examination, presenting symptoms can include decreased vision, flashes, or floaters.1 Less frequently, uveal melanoma can present with ocular or periocular inflammation simulating endophthalmitis or orbital cellulitis.2–7 In the majority of these cases, an intraocular mass will be identified on either computed tomography (CT), B-scan ultrasonography, or magnetic resonance imaging (MRI).Transplantation of autologous lamellar scleral graft for the treatment of corneal perforation
Corneal perforations are ocular emergencies and are distinct from lacerations in that there is tissue loss.1 Common etiologies include trauma, infection, underlying autoimmune disease, and loss of corneal innervation.1 If not treated promptly, corneal perforations can lead to profound vision loss, infection, phthisis, and/or globe loss.2 In developing countries, the number of corneal perforations is higher than in the developed world.1 Treatment options for corneal closure are contingent on many factors, including perforation size.Kodamea ohmeri keratitis
Kodamaea ohmeri is a yeast-like fungus and a rare but emerging pathogen.1 It has been identified as the causative organism in fungemia, funguria, endocarditis, cellulitis, and peritonitis, often with high fatality rates.1 To the best of our knowledge, there is only 1 previous report of K. ohmeri keratitis in the literature.2Rare case of extramacular choroidal macrovessel
Choroidal macrovessel (CM) is a rare, mostly unilateral vascular anomaly of the choroidal circulation.1 These abnormally large vessels may cause disturbances in the overlying retinal pigment epithelium (RPE) and the development of subretinal fluid. Some CMs can even masquerade as a choroidal tumour or parasitic infestation.1–3 Reports showing early filling of CMs during indocyanine green angiography (ICGA) suggest that most CMs are arterial in nature.1,3,4 The short posterior ciliary circulation is comprised of a medial and lateral posterior choroidal artery (PCA)5,6; the latter may represent the origin of most CMs and may explain why almost all previously reported CMs arise in the macula.Varied management of idiopathic intracranial hypertension in female-to-male transgender patients
Idiopathic intracranial hypertension (IIH) is characterized by elevated intracranial pressure, visual disturbances, papilledema, and headache. There is an association between sex hormone excess and IIH, particularly in patients undergoing hormonal therapy for gender transition.1 The increased androgen concentration during testosterone therapy for gender reassignment presents an opportunity for studying different treatment modalities. First-line treatment of IIH involves dietary changes and a carbonic anhydrase inhibitor such as acetazolamide.A masquerader epidemic: five heterogeneous ocular syphilis presentations
Syphilis is a spirochete infection transmitted through intercourse or congenital infection. Despite declining incidence since the 1990s, ocular syphilis has re-emerged in developed countries.1 We describe 5 distinct presentations of ocular syphilis to promote recognition of this increasingly prevalent disease.Wellness among Canadian ophthalmology resident physicians: a national survey
Residency is a particularly stressful and dynamic period during which learners must balance the demands of patient care, education, and personal responsibilities. Evidence of high levels of burnout among resident physicians has driven the development of initiatives and programs to help address this negative consequence of residency training. As a novel topic in the realm of medical education, more information is required to further characterize the sources of burnout and depression and the nuances of various specialities.Multiple myeloma with concurrent herpes zoster ophthalmicus: a case report
Hyperviscosity syndrome, which typically results from elevated serum levels of monoclonal protein, can present with bleeding, retinopathy, and neurologic symptoms.1 We present a case of hyperviscosity syndrome confounded by herpes zoster reactivation in a patient with newly diagnosed multiple myeloma.Delayed diagnosis of autosomal dominant optic atrophy until seventh decade of life
Autosomal dominant optic atrophy (ADOA) is the most common hereditary optic neuropathy, manifesting in approximately 1 in 50 000 people, and up to 1 in 10 000 in Denmark, owing to a founder mutation.1 Isolated ADOA typically manifests in the first 2 decades of life as bilateral painless progressive vision loss and is therefore mostly diagnosed in childhood to young adulthood. We present a series of 2 older patients, aged 63 and 64 years, who had delayed ADOA diagnosis as proband patients in their families, emphasizing the point that chronological age should not be the sole determining factor for ordering testing for ADOA in cases of unexplained optic neuropathy.Papilledema associated with COVID-19 multisystem inflammatory syndrome in children
Multisystem inflammatory syndrome in children (MIS-C), also called pediatric inflammatory multisystem syndrome, is characterized by a wide range of symptoms and can present a diagnostic challenge given its myriad presentations. On top of the more well-known inflammatory manifestations of MIS-C, recent reports have also surfaced of MIS-C causing increased intracranial pressure.1,2 MIS-C can present similarly to other systemic inflammatory disorders such as Kawasaki disease and can be especially difficult to distinguish from Kawasaki disease if a Kawasaki-like presentation is accompanied by a positive test for coronavirus disease 2019 (COVID-19).Late-onset bilateral epithelial ingrowth following rapid corneal decompensation owing to amantadine
Epithelial ingrowth (EI) can occur at the interface between the flap and the stromal bed of the patient's cornea following laser assisted in situ keratomileusis (LASIK) surgery. The introduction of corneal epithelial cells into the interface can happen during surgery or after the procedure owing to loss of contact inhibition and the presence of a pathway to the interface. Epithelial ingrowth is a relatively uncommon complication, with a reported incidence of 3.9% following primary LASIK and up to 12.8% following enhancement with a flap lift.Late progression of visual loss from ocular quinine toxicity
A 64-year-old Caucasian man was admitted to hospital with acute loss of vision after ingesting at least 3 grams of quinine, risperidone, and paracetamol. His medical history was significant for schizophrenia and nocturnal leg cramps. His usual medications were risperidone and quinine as required. No ophthalmic history was noted. An inpatient examination revealed bilateral no-light-perception vision and grossly constricted visual fields. Electrocardiogram showed sinus rhythm and blood tests, including glucose, haematology, liver, renal, coagulation profiles, and paracetamol levels were normal.Intrastromal voriconazole for refractory infectious crystalline keratopathy associated with Candida pararugosa
Infectious crystalline keratopathy (ICK) is an infrequent complication of long-term topical steroid use following penetrating keratoplasty,1 classically caused by Streptococcus viridans.2 It has been reported in association with local immunosuppression after any ocular surgery (lamellar keratoplasty, cataract surgery, trabeculectomy, corneal cross-liking, and laser in situ keratomileusis), as well as in contact lens wearers, herpetic and Acanthamoeba keratitis, and corneal anaesthesia.3,4 Besides α-haemolytic streptococci,2 multiple additional microorganisms have been causally linked to ICK, including Gram-positive or -negative bacteria, atypical mycobacteria, and fungi,3 most of them bearing biofilm-forming capacity.Cadaveric simulation improves ophthalmology resident confidence and preparedness for emergent ophthalmic procedures
Simulation-based training programs have become an essential tool in medical education.1 Surgical simulation on platforms, including the Eyesi, which are now widely adopted throughout ophthalmology training, reduces intraoperative complication rates.2 Even virtual training utilizing computer graphics and surgical models, which may be lacking in qualities provided by real-life scenarios or cadavers, helps trainees perform faster and with fewer errors compared with trainees who went without virtual training.Corneal imaging with optical coherence tomography assisting the diagnosis of mucolipidosis type IV
Mucolipidosis type IV (MPS-IV, OMIM #252650), a lysosomal storage disorder caused by dysfunctional mucolipin-1, is characterized by neurologic and visual impairment, developmental delay, and achlorhydria. MCOLN1 gene mutation identification is diagnostic but requires clinical suspicion. The latter is challenging, however, because most systemic and ocular findings are nonspecific and rarely evolve simultaneously.1 Bilateral corneal clouding is the earliest hallmark sign of MPS-IV. Unlike in other metabolic causes of corneal opacification, it is owing to preferential accumulation of abnormal material in the corneal epithelium as opposed to other corneal layers.Optical coherence tomography angiography in choroidal metastasis before and after treatment
Choroidal metastases represent the most common intraocular malignant tumor in adults.1 With the advent of optical coherence tomography angiography (OCTA), there is a unique opportunity to visualize choroidal vascular pathologies in more detail using a noninvasive technique concurrent with anatomical evaluation of the retina, retinal pigment epithelium (RPE), and choroid. Depth-selective characterization is one of the most significant advantages of OCTA, allowing better visualization of choroid circulation and, particularly, the choriocapillaris layer, which is the main source of perfusion to the RPE and photoreceptors.Late-onset recurrent Acremonium fungal keratitis after therapeutic penetrating keratoplasty
Fungal keratitis is a prominent cause of blindness worldwide. Therapeutic penetrating keratoplasty (TPK) has been demonstrated as an effective treatment for fungal keratitis that does not respond to antifungal medications. Recurrent fungal infection after TPK is uncommon but occurs typically within 2 weeks after surgery.1Endoscopic cyclophotocoagulation and Kahook Dual Blade trabeculotomy in combination with phacoemulsification
Convenient to perform alongside cataract surgery and relatively safe, minimally invasive glaucoma surgeries (MIGS) are growing in popularity. Few studies have examined the effect and safety of performing combined MIGS.Biopsy of a diffuse anterior chamber angle melanocytoma using a Kahook Dual Blade
A 68-year-old female was referred to the emergency ophthalmology clinic with a pigmented iris lesion and an intraocular pressure (IOP) of 38 in her left eye. Initial clinical assessment revealed the presence of a localized, flat, plaque-like peripheral and midperipheral iris lesion in one quadrant. Pigmented seeding on the rest of the iris surface and associated mild corectopia were observed. There were no notable episcleral sentinel vessels, and there was no iris neovascularization. On gonioscopy, heavy pigment invaded 8 clock hours of the angle (Fig.Crossed-quadrant homonymous hemianopsia in a monocular patient
A 75-year-old male presented to the clinic reporting that upon waking up from a nap 4 days earlier, he noticed he could “only see in certain spots.” He has an ocular history of moderate-stage primary open-angle glaucoma in both eyes, dry eye syndrome, and pseudophakia. He had previously undergone enucleation of his blind, painful right eye due to neovascular glaucoma from a previous central retinal vein occlusion. He was a former smoker, and his medical history is significant for multiple myeloma, bladder cancer, pulmonary embolism, hypertension, and hyperlipidemia.Superior oblique myositis following targeted therapy for papillary thyroid carcinoma
Papillary carcinoma of the thyroid gland (PCTG) constitutes 80%–85% of thyroid cancers globally. Despite early lymphatic invasion, PCTG has a relatively indolent course and rarely metastasizes outside of the neck.1 Metastasis to the brain from PCTG is even more uncommon and usually occurs in the context of widely disseminated disease. While the mainstay of treatment for intracranial metastasis from PCTG includes surgical excision and radiotherapy, recent advances into our understanding of the molecular pathways governing PCTG have facilitated development of novel targeted chemotherapeutics.Simple limbal epithelial transplantation (SLET) in conjunction with keratoplasty for severe congenital corneal opacities
Congenital corneal opacities (CCO) are rare, with an incidence of 1 in 26,000 to 37,000 live births.1,2 There is a wide spectrum of CCO disease severity from mild and small opacities to fully opaque cornea with severe lens involvement and vascularization or conjunctivalization of the cornea. The severe form of CCO is usually associated with large corneal opacity and the presence of extensive superficial corneal vascularization. Such eyes may have conjunctival epithelial ingrowth, which can increase the risk of allograft rejection.Junctional scotoma in moyamoya disease
A 66-year-old Hispanic woman presented to the eye clinic with chronic, progressively worsening vision in the right eye over 2 years associated with right-sided temporal headaches, cutaneous allodynia of the scalp, and jaw claudication. She denied fevers, chills, joint pains, nausea, photophobia, phonophobia, personal history of autoimmune disease, and family history of hereditary ophthalmological diseases. Her ocular history included pterygium removal from the OD. Seven years prior to presentation, she had an episode of light-headedness, blurry vision for 30 minutes, a severe headache, and mild weakness of the left hemiface and left body lasting 2 hours.Senior-Loken syndrome secondary to IQCB1 mutation in association with retinitis pigmentosa
Senior-Loken syndrome (SLS) is a rare autosomal recessive disease characterized by nephronophthisis and early-onset retinal degeneration.1 Nephronophthisis leads to end-stage renal failure. Several genes can cause SLS, including NPHP1-6 and NPHP10.2 We herein report a case of SLS type 5 caused by IQCB1 mutation.Conjunctival and periorbital petechiae presumed secondary to self-inflicted asphyxiation in a pediatric patient
The presence of petechiae of the face and conjunctiva is a well-described finding seen in strangulation injuries. These petechiae are commonly seen post-mortem in deaths by asphyxia and are consequently used in forensic analysis.1 Conjunctival and facial petechiae have also been noted to occur in nonfatal asphyxia, and their presence may be a sign that a severe strangulation injury has occurred.2 The mechanism for facial and conjunctival petechial hemorrhages in asphyxia is thought to be rupture of capillaries with little connective tissue support secondary to local pressure elevation from continued arterial flow while venous output is obstructed.Murine typhus presenting as pseudotumor cerebri
Murine typhus is an acute infection transmitted by rodent or cat fleas carrying gram-negative, obligate intracellular bacteria, Rickettsia typhi. This vector for transmission is most often carried on rodents, but opossums are thought to be a reservoir in suburban settings.1 Associated with overcrowding, pollution, and poor hygiene, murine typhus has been documented worldwide, but the majority of cases in the United States are in Texas and California.2Central retinal artery occlusion associated with Sweet syndrome
A 64-year-old Caucasian man presented with a 1-day history of acute painless vision loss in the right eye. On examination, his visual acuity was hand motions OD and 20/30 OS. His intraocular pressures were normal OU and he had a 3+ relative afferent pupillary defect OD. The anterior segment examination was unremarkable OU. Fundoscopic examination of the right eye revealed a cherry red spot (Fig. 1A). No vitreous cell, vasculitis, or chorioretinitis was noted OU. A fluorescein angiogram of the right eye showed an arterial filing line (Fig.Iris stromal defect in an infant masquerading as a tumour: the sailing iris?
Congenital iris lesions are rare and generally identified early in life.1,2 A pigmentary lesion on the iris ranges from a simple nevus or cyst to tumors including melanoma. These lesions can arise from both iris stroma and iris epithelium.2 Thorough examination as well as anterior segment imaging studies may be required to establish a diagnosis.3 Here, we report a rare case of congenital iris stromal defect masquerading as an iris tumour.Leber hereditary optic neuropathy harboring a rare m.12811 T>C mitochondrial DNA mutation
Leber hereditary optic neuropathy (LHON) is the first hereditary disease recognized to be caused by mitochondrial DNA (mtDNA) mutation.1 It is the most commonly inherited optic neuropathy resulting in bilateral visual impairment.2 More than 90% of LHON cases harbor 1 of the 3 major mtDNA mutations m.11778G>A, m.3460G>A, and m.14484T>C; however, other variants have been previously identified.3–5 We report on a case of LHON with an m.12811T>C mtDNA mutation, a rare variant mutation that has only been previously reported as a secondary mutation of LHON.Waxing and waning poppers maculopathy
Poppers are volatile aromatic liquids typically available in vials. They make a popping sound upon opening. Poppers are a member of the alkyl nitrites, chemicals with nitric oxide donor characteristics. Poppers have been a popular recreational drug for years owing to their transient euphoric, myorelaxant, and aphrodisiac effects presenting just seconds after inhalation.1,2 Although they are illegal to sell as such, they are easily obtainable, and are often sold as air fresheners online or in nightclubs.Infliximab for management of severe refractory posterior scleritis in a 9-year-old boy
Posterior scleritis (PS) is a chronic inflammatory condition of the sclera posterior to the rectus muscle insertions. PS predominantly affects adult women and is rare in children.1,2 Adult form of PS is typically associated with autoimmune systemic diseases; however, pediatric PS is mostly idiopathic with no known underlying conditions.2–4 The initial presentation of PS in children is nonspecific with painful red eye, potential vision loss, light sensitivity, and eye movement restriction, which make the diagnosis difficult.Data reporting in ophthalmology during COVID-19 pandemic: need for a Canadian registry
Registries assist public health in documenting the incidence of new infections and gathering clinical data about patients to inform clinicians on presentation and evolution of emerging diseases. This becomes even more important during the coronavirus disease 2019 (COVID-19) pandemic.Telemedicine for postoperative consultations following vitrectomy for retinal detachment repair during the COVID-19 crisis: a patient satisfaction survey
The most recent World Health Organization (WHO) report on the coronavirus disease 2019 (COVID-19) pandemic confirms a total of 4 013 728 cases, with a death toll of 278 993.1 The staggering number of deaths has thrust us into embracing telemedicine within ophthalmology, with the increased use of video and telephone consultations, to reduce the risk of virus transmission.2 At our tertiary eye unit, we continue to provide a 7-day-a-week emergency retinal surgical service; however, our postoperative review has been modified to include telephone consultations, rather than face-to-face patient contact.Follicular dendritic cell sarcoma: a novel orbital tumour
Follicular dendritic cell sarcoma is a rare neoplasm of lymphoid cells predominantly found in lymph nodes and rarely in extranodal locations. We report the first case of follicular dendritic cell sarcoma occurring in the orbit.Multimodal imaging of sclerochoroidal calcification associated with choroidal neovascular membrane
Sclerochoroidal calcification is a benign condition typically diagnosed in asymptomatic, older, white adults, which can simulate other more serious conditions such as choroidal melanoma, metastasis, or lymphoma.1 It is characterized as yellow or yellow-white single or multifocal lesions typically found in the superotemporal quadrant near the vascular arcades, which can be unilateral or bilateral.1 Although sclerochoroidal calcification is most often idiopathic, systemic testing at the time of diagnosis is required to exclude associated disorders of calcium-phosphorus metabolism.Bilateral interstitial keratitis as the presenting manifestation of systemic lupus erythematosus in a child
Interstitial keratitis (IK) is defined as a nonsuppurative inflammation of the corneal stroma with associated cellular infiltration and vascularization commonly caused by infections or rheumatologic conditions. Although extremely rare, IK may be seen with systemic lupus erythematous (SLE). We present the first case of a child without known history or symptomatology of rheumatologic or infectious disease presenting with bilateral IK that ultimately led to a diagnosis of SLE.Continuity of ophthalmology education during a pandemic by combining video conferencing application with a slit-lamp camera
The on-going coronavirus disease 2019 (COVID-19) outbreak has dramatically changed the way of work and communication in health care. As of March 22, 2020, public hospitals in Israel have ceased to provide nonurgent office-based visits and surgeries, and the presence of faculty and residents is kept to a minimum. Clinical departments’ staff is commonly divided into separate teams, to diminish their vulnerability in case of exposure to COVID-19 carriers. Worldwide, quarantine and social distancing regulations have now put new barriers between ophthalmologists, their patients, and their colleagues.Treatments for inherited retinal degenerations are coming to Canada: brief update on a new standard of care for inherited retinal degenerations
The last 25 years brought a spectacular amount of knowledge on the genetic basis of inherited retinal disorders and a paradigm shift on how they can be managed. We entered the era of gene therapy for inherited retinal degenerations (IRDs).Intraorbital foreign body giant cell granuloma secondary to a gelatin sponge
Gelatin-based sponges are water-insoluble hemostatic agents derived from purified porcine skin and gelatin granules. These sponges are approved for placement against mucosalized surfaces and within soft tissues.1,2 Herein, the authors report a case of an orbital foreign body giant cell granuloma secondary to a gelatin sponge.Conservative management of periorbital necrotizing fasciitis caused by methicillin-resistance Staphylococcus aureus
Necrotizing fasciitis (NF) of the periorbital region is a rare occurrence, though has been shown to cause severe facial disfigurement, blindness, and death.1,2 We report a case of community-acquired methicillin-resistant Staphylococcus aureus (MRSA)–associated periorbital NF in a 25-year-old woman, who presented with left eye and nostril redness and swelling after picking a pimple on her nose a few days prior. She had no significant medical history and was not diabetic. She was initially diagnosed with facial cellulitis and commenced on antibiotics, but returned 2 days later with worsening cellulitis, bilateral leg pain and redness, and shortness of breath.Capnocytophaga sputigena as a cause of severe orbital cellulitis and subperiosteal abscess in a child
Orbital cellulitis is an infection of the soft tissues lying behind the orbital septum. The etiologic agents differ across age group, but gram-positive cocci colonizing the skin and the nasopharynx, such as Staphylococcus and Streptococcus species, are most commonly identified in children. Haemophilus influenzae, a gram-negative facultative anaerobe, was frequently identified before the introduction of the Haemophilus vaccine in 1985. We report the case of a 15-year-old man who presented with a severe orbital cellulitis complicated by a subperiosteal abscess (SPA) secondary to Capnocytophaga sputigena.A case of multifocal presumed solitary circumscribed retinal astrocytic proliferation lesions in the same eye
Presumed solitary circumscribed retinal astrocytic proliferation (PSCRAP) is a recently described retinal tumour that is a distinct entity from other white lesions of the retina such as astrocytic hamartoma and acquired astrocytoma.1 The exact origin of these lesions is of some debate within the literature as no histological diagnosis exists to date.2,3 These lesions are not associated with tuberous sclerosis complex or related syndromes and can be distinguished from astrocytic hamartomas with imaging.Canadian ophthalmology resident experience during the COVID-19 pandemic
The ongoing worldwide pandemic of coronavirus disease 2019 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has greatly affected our lives. At the time of writing this report, there have been 18 166 298 confirmed cases and 690 953 deaths worldwide owing to SARS-CoV-2, with 118 966 cases and 8995 deaths in Canada.1Branch retinal vein occlusion as the presenting feature of germ cell tumour
Retinal vein occlusion (RVO) is the second most common retinal vascular disease after diabetic retinopathy. RVO stands as one of the common causes of visual morbidity and blindness in the elderly population. RVO can be classified into central retinal vein occlusion (CRVO) and branch retinal vein occlusion (BRVO) based on the site of vascular occlusion. The incidence of BRVO is generally higher than the incidence of CRVO. Systemic hypertension, hyperlipidemia, and increased body mass index are important risk factors for BRVO in young patients,1 similar to older population.Serous retinal detachment following bronchoscopy-induced hypertensive emergency
Flexible bronchoscopy is a widely used procedure with multiple therapeutic and diagnostic uses. Although considered fairly low risk, ocular complications including subconjunctival hemorrhage and Valsalva retinopathy1 have been reported. We present a case of serous retinal detachment (SRD) that was primarily caused by a hypertensive emergency occurring during bronchoscopy.Retinal ganglion cell loss in postmortem tissue of Alzheimer disease, glaucoma, and healthy normal subjects
Loss of retinal ganglion cells (RGCs), the hallmark of glaucoma (GL), is also thought to occur in patients with Alzheimer disease (AD).1,2 Structural measures derived with optical coherence tomography have been used as proxies for RGC estimates in GL3,4 and AD,5 both independently and in comparative studies.6,7 Although optic nerve damage in GL8,9 and AD10 has been reported in postmortem tissue, quantification in the retina is limited to the use of generic techniques, such as Nissl staining in the ganglion cell layer,11,12 which label all nuclei and not specifically RGCs.Anterior uveitis following collagen crosslinking in a patient with X-linked chronic granulomatous disease
A 14-year-old boy of Middle Eastern heritage with X-linked chronic granulomatous disease (CGD) was referred to the cornea clinic for keratoconus. He had no history of uveitis. He had been diagnosed with CGD 6 years ago after suffering pneumonia requiring broad-spectrum intravenous antibiotics. He had no significant infections since starting prophylactic antibiotics and antifungals. His mother stated that he “constantly rubs his eyes.” His mother was a CGD carrier and also had keratoconus. No other family members had CGD or keratoconus.Access, an unintended consequence of virtual continuing medical education during COVID-19: a department's experience at the University of Toronto
Coronavirus disease 2019 (COVID-19) has irreversibly affected the lives of millions of people globally; to control its spread, many activities including clinical care have been limited to essential services.1 Continuing medical education (CME) activities in many specialities, however, have expanded and even flourished by moving to online platforms, allowing for broader interactions across hospitals, organizations, and borders. In this perspective, we highlight what we believe is the most important benefit to come from the rise in virtual CME during the pandemic drawing from our own department's experience, namely, increased access to those who have historically been excluded from traditional CME activities.Paracentral acute middle maculopathy following high-intensity interval training
High-intensity interval training (HIIT) is a cardiovascular exercise strategy that combines short bursts of intense anaerobic exercise with quick recovery periods. There are significant cardiovascular, metabolic, and mental health benefits associated with HIIT.1 Furthermore, this exercise regimen is correlated with better macular and optic nerve head capillary perfusion, microvascular remodelling, and decreased size of the foveal avascular zone in the long-term.1,2Case of Coats disease associated with neurofibromatosis type 1
A 24-month-old boy with neurofibromatosis type 1 (NF1) was found to have Coats disease during clinical follow-up examination. The relationship between the 2 conditions is discussed.Transient internal ophthalmoplegia with anisocoria and loss of accommodation after inferior oblique recession in a 5-year-old
Inferior oblique recession is a widely used operation for the treatment of strabismus. This surgical procedure has been practiced for many years and generally has not had serious complications. Here, we describe a case of transient internal ophthalmoplegia causing pupillary dilatation and loss of accommodation after inferior oblique recession. Internal ophthalmoplegia has been previously reported as a complication of procedures in which significant manipulation of the inferior oblique occurred, such as denervation and extirpation, myectomy, recession, repair of orbital floor fractures, and sinus surgery.Solitary reticulohistiocytoma: a rare ocular surface mass
Reticulohistiocytoma, also known as solitary epithelioid histiocytoma, is a rare but well-documented histiocytic proliferation of the skin and soft tissues.1 It is a non-Langerhans cell histiocytic lesion that typically affects adults. According to the revised classification of histiocytic disorders, solitary reticulohistiocytoma (SRH) is listed under the C group (xanthogranuloma family).2 Another form, which is also listed under the C group, is multicentric reticulohistiocytosis, in which patients present with extensive cutaneous and joints involvements.A case of complete spontaneous regression of extensive Merkel cell carcinoma involving the orbit
Merkel cell carcinoma (MCC) is a rare and aggressive neuroendocrine cutaneous carcinoma with an annual incidence of 0.18–0.42 cases per 100 000.1 MCC has a propensity for local recurrence, lymphatic, and distant metastasis, and most commonly presents in the head and neck region of elderly and immunocompromised patients.1,2 Despite its aggressive nature and poor 5-year survival rate (60%),1 complete spontaneous regression (CSR) has been documented in approximately 1.67% of cases.3 In all reported cases of CSR, resolution occurred within 18 months of diagnosis of the primary tumour, and the regression was rapid, occurring over 1–3 months.Paracentral acute middle maculopathy after meningococcal vaccination in a young female
Paracentral acute middle maculopathy (PAMM) is an uncommon clinical presentation of a retinal ischemic insult within the deep capillary plexus (DCP) of the retina. This results in a characteristic scotoma corresponding to the area of ischemia and area of abnormal hyper-reflectivity of the inner nuclear layer (INL) on optical coherence tomography (OCT).1 Previously there have been very few reports of PAMM resulting from a vaccination. There have been no cases of PAMM following the administration of a meningococcal vaccine, and to our knowledge this case represents the youngest recorded case of vaccine-associated PAMM in an otherwise healthy child.Colouring outside the lines: a case of corneal intrastromal foreign body
A 6-year-old boy presented with an intrastromal foreign body in his right eye after an inadvertent blunt trauma with a coloured pencil impacting on the right cornea. The emergency department assessment confirmed an orange foreign body lodged within the corneal tissue. The patient did not have any concurrent medical history.Asymmetric presentation and fundus autofluorescence findings in non-paraneoplastic autoimmune retinopathy
Non-paraneoplastic autoimmune retinopathy (npAIR) remains an ill-defined disorder with no standardized diagnostic criteria or definitive tests.1–5 Autoimmune retinopathy (AIR) exists on a spectrum with autoimmune-related retinopathy and optic neuropathy (AARON) where AARON has the retinal features of AIR with optic neuropathy. Both of AIR and AARON can mimic retinal degenerations such as retinitis pigmentosa (RP); however, asymmetry can be an important sign in differentiating AARON from retinal degenerations.Recurrent panuveitis after initial treatment of endophthalmitis secondary to intravitreal anti-vascular endothelial growth factor
Endophthalmitis is a rare and devastating complication of intravitreal anti-vascular endothelial growth factor (anti-VEGF) injections with varying reported rates (range 0.019%–0.09%) of administered injections, and its recurrence is even more uncommon.1 There have been multiple reported cases of either recurrent inflammation or endophthalmitis developing after intraocular procedures.2,3 We present a case of recurrent panuveitis subsequent to an episode of treated Staphylococcus epidermidis endophthalmitis that resulted after an intravitreal anti-VEGF injection.Polychromasia capsulare in Fuchs heterochromic iridocyclitis: case report and literature review
Multicolored lens capsule, known as polychromasia capsulare, is a rare disease with autosomal dominant inheritance. It was described in 2 families by Knox et al in 1969, in 3 families by Traboulsi et al in 2005, and in 1 family by Osher et al in 2016.1–3 There was a coincident finding of chronic uveitis and presumed ocular histoplasmosis but no other ocular involvement or systemic association in these families. The described patients were all phakic, and only the peripheral anterior capsule was involved.Retinoblastoma in a child with tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is a rare, multisystemic genetic disorder characterized by hamartomatous growth affecting the brain, heart, lung, kidney, skin, and eyes.1 Retinal astrocytic hamartoma (RAH) is the most common ophthalmic manifestation of TSC occurring in 30%–50% of patients with TSC.1 Although most RAH remains stable throughout life, progressive growth of retinal lesion necessitating enucleation has been reported.2 On the other hand, retinoblastoma is the most common primary intraocular malignancy in children.“Percussive” orbital trauma from wooden drumstick
Although penetrating orbital traumas are rare,1 they are associated with high rates of mortality and monocular blindness.2,3 In addition, they can cause damage to adjacent structures such as the brain, the cavernous sinus, and major arteries. Reported complications include hemorrhage, thrombosis, neurological deficits, facial fractures and associated deformations, and infections.1 Optimal management of orbital penetrating injuries includes prompt and thorough evaluation and multidisciplinary collaboration between ophthalmology, neurosurgery, trauma surgery, otolaryngology, and radiology.Branch retinal vein occlusion associated with fingolimod treatment for multiple sclerosis
Visual manifestations are the presenting symptom in approximately 20% of patients with multiple sclerosis (MS). The management of relapsing-remitting forms of MS relies on disease-modifying drugs to reduce the frequency of recurrent episodes and slow progression.Late-onset spontaneous EX-PRESS shunt dislocation into anterior chamber
The EX-PRESS Glaucoma Filtration Device (Alcon Laboratories, Fort Worth, Tex) is a surgical option for management of uncontrolled open-angle glaucoma where medical and laser treatments have failed. It is a stainless steel, nonvalved device that is implanted under a scleral flap and secured by sutures. By using this surgical approach, the complications of erosion of overlying conjunctiva and shunt extrusion are reduced, and similar efficacy and safety, when compared with trabeculectomy, has been shown.Early ocular findings in Cohen syndrome: case report and Canadian survey study
Cohen syndrome (CS) is an extremely rare genetic disorder characterized by systemic and ocular findings, with fewer than 1000 cases estimated worldwide.1 The condition is caused by biallelic mutations in the vacuolar protein sorting 13 homolog B (VPS13B) gene.1 A diagnosis may be suspected in a child presenting with global developmental delay, hypotonia, microcephaly, slender hands and feet, neutropenia, and dysmorphic facial features (down-slanting palpebral fissures, hypertelorism, short philtrum, prominent upper teeth, maxillary hypoplasia, and micrognathia).Opacification of hydrophilic acrylic intraocular lens following vitreoretinal surgery: a clinicopathological report
Intraocular lens (IOL) opacification is a rare complication following cataract surgery. IOL opacification has been reported in various types of IOL, including polymethylmethacrylate, hydrophobic acrylic, and hydrophilic acrylic lenses. This increasingly recognized clinical entity could result in a range of symptoms, such as reduced or foggy vision, glare, and halos around bright light. Not uncommonly, IOL exchange is necessitated to improve visual function. Over the past decade, there is a growing literature on IOL opacification following intracameral gas during lamellar corneal transplantation.From trenches to trailblazers: the First World War and its influence on ophthalmology in Canada
When the First World War erupted in 1914, thousands of Canadians rushed to enlist out of patriotic fervour. Hundreds of doctors and nurses sailed overseas to attend to the masses of wounded in this war of unprecedented scale and destruction. Among these practitioners was a group of Canadian ophthalmologists.Utility of patient face masks to limit droplet spread from simulated coughs at the slit lamp
With the accelerated spread of the severe acute respiratory syndrome coronavirus 2 leading to coronavirus disease 2019 pandemic, there are unprecedented challenges on the medical community. Of major concern are the high titres of virus in the oropharynx early in the disease course, and long incubation period (5–7 days) of asymptomatic shedding of severe acute respiratory syndrome coronavirus 2.1 Effective use of personal protective equipment (PPE) such as gloves, face masks, goggles, face shields, and gowns is critical to prevent the spread of infection to and from health care workers and patients.Management of pupillary seclusion and occlusion of an iris enclaved intraocular lens
The phakic intraocular lens (PIOL) is intended to treat large refractive errors of patients who are considered poor candidates for corneal refractive surgery.1,2 Phakic intraocular lens (IOLs) are generally categorized into 3 types: angle-supported, iris-fixated, and posterior-chamber IOLs.2,3 The Artisan (Ophtec BV, Groningen, The Netherlands) and Verisyse (Abbott Laboratories, Lake Bluff, Ill) PIOLs are iris fixated and have a proven track record of safety.2,4 Tahzib et al conducted a 10-year retrospective study of the Artisan PIOL for moderate to high myopic correction and reported that it is stable, predictable, and safe under a strict selection criterion.Exudative retinal detachment secondary to hypertensive crisis related to membranous nephropathy
Membranous nephropathy is the most common cause of nephrotic syndrome in Caucasian adults, though rare, with an estimated annual worldwide incidence of 1.2 per 100 000 persons.1 In membranous nephropathy, autoimmune complexes deposit on and thicken the glomerular basement membrane.2 Of the patients with membranous nephropathy, 12% proceeded to renal failure in a longitudinal study.3 Patients with end-stage renal disease on dialysis are at significantly increased risk of exudative retinal detachments.Rosai-Dorfman disease with corneal anaesthesia: case report and review of literature
Rosai-Dorfman disease is a rare systemic histioproliferative disease characterized clinically by cervical lymphadenopathy and pathologically by lymph node sinuses containing histiocytes with intact phagocytosed lymphocytes (emperipolesis).1Nomenclature: thyroid-associated orbitopathy, Graves ophthalmopathy, or thyroid eye disease?
Nomenclature in medicine affects scientific accuracy, patient perceptions, communication, and information retrieval. We opine that the terms “thyroid eye disease” (TED) or “Graves ophthalmopathy” (GOp) used to designate the most common nontraumatic orbitopathy we encounter as ophthalmologists are inappropriate; a better appellation for this autoimmune orbitopathy usually associated with dysthyroidism is “thyroid-associated orbitopathy” (TAO).Convergence spasm with horizontal nystagmus in anti-GAD65 antibody syndrome
Anti-glutamic acid decarboxylase (anti-GAD) autoantibody syndrome produces symptoms and signs related to loss of the inhibitory neurotransmitter gamma aminobutyric acid. Patients with GAD antibody may present with hyperexcitability disorders, including stiff-person syndrome, limbic encephalitis, and nystagmus. There has been only one previous report of convergence spasm in a patient with GAD antibody. Here we present a case of convergence spasm and, to our knowledge, the first case in the English-language ophthalmic literature to have concomitant horizontal nystagmus, in a patient with anti-GAD65 antibody syndrome.Idiopathic bilateral inner retinal defects in a child
The development of ocular imaging techniques, such as optical coherence tomography (OCT), has introduced several findings of unknown clinical significance that remain underexplored, including anomalies of the retinal layers. Anomalies of the inner retina have been reported in association with several systemic conditions and idiopathically. Herein we present a case of a girl with nonprogressing inner retinal defects in the context of otherwise normal retina and without a clearly identifiable systemic etiology.Portable meibography technology using a smartphone device
Meibomian gland dysfunction (MGD) is a major cause of evaporative dry eye disease that occurs when the meibomian glands, modified sebaceous glands located within the lower and upper tarsal plate of the eyelids, produce abnormal and excessive amount of lipids and result in obstruction of the glandular ducts. Dry eye is one of the most common concerns that patients present with to an ophthalmologist, and up to 80%–90% of patients with dry eye disease have signs of MGD.1 With advances in ophthalmic imaging, growing knowledge of the role of the meibomian glands in dry eye disease has led to increased interest in visualizing these glands by both ophthalmic practitioners and patients.Ocular management of acute Stevens-Johnson syndrome in a 14-month-old child
Stevens-Johnson syndrome (SJS), along with its severe counterpart toxic epidermal necrolysis, is a dermatologic emergency characterized by bullous lesions of the mucosal tissues and epidermis with potential for severe ophthalmic sequelae. The majority of cases are directly associated with medications from multiple drug classes, although sulfa-based antibiotics are one of the most common. The remaining cases are generally related to infectious etiologies, with Mycobacterium pneumoniae being the most commonly implicated organism.Dysgeusia and amaurosis fugax: a unique presentation in spontaneous internal carotid artery dissection
Spontaneous internal carotid artery (ICA) dissection is a significant cause of ischemic stroke in young adults1. The presenting symptoms and signs of ICA dissection (ICAD) are variable and can be due to direct local involvement of neural structures (e.g., oculosympathetic plexus causing the ipsilateral Horner syndrome) or indirect distal ischemia to brain or eye (e.g., transient ischemic attack or stroke) from thromboembolic disease 23. Transient monocular visual loss (TMVL) and the Horner syndrome are well-known presentations of ICAD and may occur in up to 50% of cases 4.Ultrasound biomicroscopy and posterior B-scan findings in Walker-Warburg syndrome
Walker-Warburg syndrome (WWS) is a rare, congenital, autosomal recessive muscular dystrophy that is associated with severe ocular abnormalities and a life expectancy of less than 1 year.1 The diagnosis of WWS relies on 4 criteria: congenital muscular dystrophy, anterior or posterior eye anomalies, migrational brain defects (with type II lissencephaly and hydrocephalus), and an abnormal brainstem or cerebellum.1 The differential diagnosis of WWS is broad and includes Fukuyama congenital muscular dystrophy and muscle-eye-brain disease.Severe optic neuropathy as the presenting sign of leptomeningeal carcinomatosis from pancreatic cancer
Pancreatic cancer is one of the deadliest cancers in North America with an overall 5-year survival rate of less than 10%.1 The majority of pancreatic solid tumours metastasize to other organs, mainly to the liver and other peritoneal organs.1 Leptomeningeal metastasis (LM) or carcinomatous meningitis is infiltration of cancer cells to the leptomeninges and cerebrospinal fluid and is extremely rare in the setting of pancreatic adenocarcinoma with only 19 English cases reported (Supplementary Table 1, available online).
