Correspondence
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.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.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.2Convergence 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.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.Infectious keratitis as the presenting sign of giant cell arteritis
Giant cell arteritis (GCA) is a medium-to-large vessel vasculitis that usually presents with headache, loss of vision, jaw claudication, and scalp tenderness. We report a case of biopsy-consistent GCA presenting as an infectious bacterial keratitis. To our knowledge, this is the first such case reported in the English-language ophthalmic literature.Thrombotic thrombocytopenic purpura in chronic myelogenous leukemia
Thrombotic thrombocytopenic purpura (TTP) is a rare disease characterized by the pentad of microangiopathic hemolytic anemia, thrombocytopenia with purpura, acute kidney injury, neurologic abnormality with fluctuating mental status, and fever.1,2 It has an incidence ranging from 3.7 to 11 cases per million and risk factors that include female gender, Afro-Caribbean ancestry, and obesity.2 The prevailing pathophysiologic theory for TTP asserts that patients have a deficiency or defect in A disintegrin and metalloproteinase with thrombospondin type 1 motif, member 13 (ADAMTS13), a protease that cleaves large multimers of von Willebrand factor.Rapid same-day resolution of internuclear ophthalmoplegia in Wernicke encephalopathy following parenteral high dose thiamine
Internuclear ophthalmoplegia (INO) is well known for its association with multiple sclerosis in young patients and ischaemic stroke in older patients. Lesions of the medial longitudinal fasciculus produce the clinical findings of INO. Wernicke encephalopathy (WE) is a metabolic disorder of thiamine deficiency that classically presents with confusion, ataxia, and nystagmus. Diplopia and ophthalmoplegia can also be the presenting or predominant complaint in WE. We report a case of WE presenting with an INO who had same-day resolution of symptoms and signs after high-dose parenteral thiamine.Leber hereditary optic neuropathy: 41-year interval between fellow eye involvement
Leber hereditary optic neuropathy (LHON) is an inherited mitochondrial disorder that typically presents in young men with painless, subacute, bilateral (simultaneous or sequential) central vision loss.1,2 Most cases have nonsimultaneous involvement of the contralateral eye in an interval less than 1 year.2,3 However, there are reports of loss of vision in the fellow eye over 1 year later. To date, the longest interval between affected eyes is 18 years.4 We present a patient with an interval of 41 years.Giant cell arteritis relapse presenting as idiopathic orbital inflammation
Giant cell arteritis (GCA) is a systemic vasculitis that can cause permanent vision loss. Even after treatment, relapses have been reported in 40%–64% of patients, depending on how relapses are defined.1,2 Here, we present a rare case of a GCA relapse mimicking idiopathic orbital inflammation (IOI) on the side contralateral to the initial episode of the disease. Simultaneous, positive biopsies of the orbit and temporal arteries were obtained, offering histological evidence that the orbital inflammation and GCA flare were linked.Reversible anisocoria due to inadvertent ocular exposure to topical anticholinergic treatment for primary axillary hyperhidrosis
Anisocoria is a common clinical challenge and can be due to benign (e.g., pharmacologic anisocoria, iris damage, tonic pupil) or potentially dangerous (e.g., aneurysm, syphilis, tumour) etiologies. Although pharmacologic dilation and anisocoria from topical, dermatologic, nebulized, and systemic mydriatics is well-known, pharmacologically induced mydriasis from topical treatments for primary axillary hyperhidrosis is less well-described. Two relatively new anticholinergic topical agents, sofpironium bromide (currently in phase 3 clinical trials [Argyle Study]) and glycopyrronium (Qbrexza), are now available.Abducens nerve palsy and ipsilateral Horner syndrome as the presenting finding of carotid cavernous fistula
An 84-year-old female with history of hypertension and hyperlipidemia presented with nontraumatic left eyelid edema, erythema, and ptosis followed by acute painless binocular horizontal diplopia. Best corrected visual acuity was 20/20 OD and 20/30 OS. The OD pupil measured 4 mm in the dark and 2 mm in the light, and the OS pupil measured 3 mm in the dark and 2 mm in the light. No relative afferent pupillary defect was detected. There was a 50 prism diopter esotropia in primary gaze and an abduction deficit of –4 OS (Fig.Presumed ischemic optic neuropathy
Nonarteritic anterior ischemic optic neuropathy (NAION) is a relatively common cause of acute, painless vision loss in patients typically older than 50 years. Presentation is often associated with predisposing vasculopathic risk factors, but has also been reported as a complication of pregnancy. We describe a young, healthy female with disc drusen who suffered bilateral NAION due to postpartum blood loss. To our knowledge this is the first such case to be reported in the English-language ophthalmic literature.Chronic myelomonocytic leukemia-related vasculitis mimicking giant cell arteritis
Giant cell arteritis (GCA) is a medium-to-large vessel vasculitis, commonly seen in the elderly, that can produce visual loss.1 Although the diagnosis of GCA is typically made via a temporal artery biopsy (TAB), other vasculitides have been diagnosed by TAB in patients with symptoms and signs initially suggestive of GCA. Chronic myelomonocytic leukemia (CMML) is a myeloid neoplasm characterized by persistent monocytosis, macrocytic or normocytic anemia, and thrombocytopenia.2 We report an unusual case of CMML-associated vasculitis mimicking GCA.Primary central nervous system lymphoma of the optic chiasm
Primary CNS lymphoma (PCNSL) is a rare form of extranodal, high-grade, non-Hodgkin lymphoma (NHL), accounting for approximately 3% of newly diagnosed brain tumors and 2 to 3% of all NHL.1 PCNSL can also arise from posttransplant lymphoproliferative disorder (PTLD), a disorder in patients with secondary immunodeficiency after a solid organ or hematopoietic stem cell transplant.2 PCNSL is characterized by rapid growth usually confined to the CNS and can originate in the brain, leptomeninges, spinal cord, or eyes.Optic neuropathy in extramedullary, blast crisis of chronic myeloid leukemia
Chronic myeloid leukemia (CML) represents 10%–20% of all leukemias. Vision loss in patients with CML is usually related directly to the disease (CML) or less likely to potential side effects of the treatment of CML (e.g., radiotherapy or chemotherapy). Extramedullary CNS or meningeal blast crisis in CML is an uncommon but well-known complication of CML. Visual loss in CML typically occurs with abnormal serum white blood cell (WBC) count, peripheral blood smear, bone marrow biopsy, cerebrospinal fluid (CSF) analysis, or neuroimaging.Elevated lipoprotein(a) levels as the cause of cryptogenic stroke in a young Ashkenazi Jewish female
Lipoprotein(a) is a cholesterol carrier molecule, structurally similar to low-density lipoprotein (LDL), but with distinct properties predisposing it to associations with increased risk of stroke, myocardial infarction (MI), and aortic stenosis.1–4 However, lipoprotein(a) levels are not routinely checked, although there is a known pattern of genetic inheritance.5 We present a case of a young patient with purported cryptogenic stroke and a family history of cardiovascular disease, which was attributed to elevated lipoprotein(a) levels.Triple-hit lymphoma of the cavernous sinus
Diffuse large B-cell lymphoma (DLBCL) is the most common non–Hodgkin-type lymphoma in adults, and the myriad of clinical presentations is well known to neuro-ophthalmologists.1 Traditionally, DLBCL was treated with standard chemotherapy, including R-CHOP (i.e., rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone). Newer cytogenetic, fluorescent in situ hybridization (FISH), and next-generation sequencing (NGS) techniques, however, have shown the presence of genomic abnormalities that have significant treatment and prognostic implications.Idiopathic intracranial hypertension in a transgender female
A 39-year-old morbidly obese African-American male-to-female transgender patient presented with acute-on-chronic vision loss in the right eye. She reported a 1-year history of a dim temporal field OD initially at night, which progressed acutely to include daytime as well. The patient was seen by an optometrist, who found bilateral optic disc edema and referred the patient to an outside hospital. A computerized tomography (CT) of the head was normal.Vestibulocochlear symptoms as the initial presentation of giant cell arteritis
Giant cell arteritis (GCA)—also known as temporal arteritis—is a systemic vasculitis that involves medium and large-caliber arteries such as the cranial arteries, great vessels, and aorta. Although the typical nonocular features of GCA are well known (e.g., new-onset headache, scalp tenderness, jaw claudication), vestibulocochlear presentations are rare and can mimic acute idiopathic sensorineural hearing loss (AISHL).1 Although steroids are given for both AISHL and GCA, the lower dose and shorter duration of steroid treatment in AISHL can obscure and delay the diagnosis of GCA.Homonymous hemianopsia as the presenting sign of migrainous infarction
Migrainous infarction is a rare complication of migraine headaches that accounts for 0.2%−0.5% of ischemic strokes.1,2 This condition frequently occurs in the posterior cerebral circulation and typically affects a single vascular territory.1,2 The most common symptom preceding an acute migrainous infarction is a visual aura (82.3%) that resolves within minutes to hours.1 Visual field defects like partial or complete homonymous hemianopsia (HH) after a migrainous infarction have been reported, but the prevalence is unknown.Bilateral disc edema in hypertensive emergency
Bilateral optic disc edema can be a result of several etiologies and deserves a thorough work-up. Neuroimaging and laboratory studies should be performed to rule out neoplastic, vascular, infectious, ischemic, or inflammatory etiologies, and a lumbar puncture (LP) should be performed to measure intracranial pressure (ICP) if necessary after performing the appropriate imaging studies. Patients with papilledema should be evaluated for alternative causes of increased ICP. We present the case of a patient who presented with bilateral optic disc edema and was found to have increased ICP.Mydriasis due to Opcon-A: An indication to avoid pharmacologic testing for anisocoria
A 35-year-old woman presented to the Emergency Department with an acute, painless, dilated left pupil. Her medical history was notable for myopia and truncal herpes zoster infection that had completely resolved 2 years ago. Ocular history was significant for bilateral contact lens wear, and her preferred wetting and cleaning solution was Opcon-A (naphazoline and pheniramine). Her surgical, social, and family history and a complete review of systems were unremarkable. On examination, the visual acuity was 20/20 OU.Nine syndrome in a patient with systemic lupus erythematosus
Systemic lupus erythematosus (SLE) is an autoimmune disease that can affect many different organ systems and present in a variety of ways. The central nervous system (CNS) is frequently affected, resulting in a wide range of manifestations. Patients may present to an ophthalmologist with ocular symptoms before a diagnosis is established; thus, early recognition is important to avoid delays in diagnosis and treatment. We report the first case of a patient with lupus who developed nine syndrome due to pontine ischemic stroke precipitated by CNS vasculitis.Cerebellopontine angle astrocytoma producing Bruns nystagmus mimicking vestibular schwannoma
Cerebellopontine angle (CPA) extra-axial lesions (e.g., classically the vestibular schwannoma) may cause a characteristic neuro-ophthalmologic sign known as the Bruns nystagmus, a gaze-evoked horizontal nystagmus when looking away from the lesion and a gaze-paretic type nystagmus when looking toward the lesion. In contrast, intra-axial exophytic CPA astrocytomas are rare and, to our knowledge, have not been reported in the English-language ophthalmic literature previously as a cause of Bruns nystagmus.Orbital metastasis mimicking internuclear ophthalmoplegia: A case report and review
Internuclear ophthalmoplegia (INO) is caused by a lesion in the medial longitudinal fasciculus (MLF). It is characterized clinically by an ipsilateral adduction deficit (e.g., adduction deficit or lag) and a dissociated, horizontal, abducting nystagmus of the contralateral eye on attempted horizontal gaze. A similar clinical presentation not attributable to a lesion in the MLF, called a pseudo-INO, is usually caused by myasthenia gravis. We present a rare case of an apparent INO resulting from rectal adenocarcinoma metastasis to the orbit.A rare association: Cushing disease and central serous chorioretinopathy
Central serous chorioretinopathy (CSCR) consists of subretinal accumulation of serous fluid leading to a circumscribed detachment of the neural retina.1,2 The fluid accumulates in the macular region, resulting in decreased visual acuity, blurry vision, color desaturation, metamorphopsia, and impaired dark adaptation.1 Although the pathogenesis of CSCR remains unknown and most cases are idiopathic, excess corticosteroid levels have been reported in association with CSCR.3 This is rare in the setting of Cushing disease.Perioperative nonarteritic anterior ischemic optic neuropathy in Jehovah’s Witnesses
A 62-year-old, female, African American, Jehovah’s Witness experienced bilateral and simultaneous vision loss 2 days after hip arthroplasty. Her 5-hour supine hip replacement surgery resulted in 1 L of blood loss; given her religious status, she refused replacement blood products. Her hemoglobin was 6.3 g/dL preoperatively and 4.7 g/dL postoperatively. The etiology of her preoperative anemia was not known. Her lowest postsurgical blood pressure was 75/45 mm Hg. Her hypotensive medications were discontinued, she was kept in Trendelenburg position, and was treated with intravenous (IV) iron and darbepoetin alfa.Retrobulbar hemorrhage and prasugrel
Retrobulbar hemorrhage (RBH) is the accumulation of blood in the orbit behind the globe. Although some hemorrhages are minor and do not result in significant mass effect, an RBH is an ophthalmologic emergency requiring immediate surgical intervention. An RBH manifests as acute ipsilateral orbital pain and proptosis and can be variably associated with loss of vision, ophthalmoplegia, subconjunctival hemorrhage, and increased intraocular and intraorbital pressure.1 Most cases of RBH are traumatic or postsurgical, but some occur spontaneously in patients with bleeding diatheses.Acute myelogenous leukemia presenting with uveitis, optic disc edema, and granuloma annulare: Case report
Although ocular manifestations of the acute leukemias have been reported commonly, the majority of these reports refer to acute lymphoblastic leukemia rather than Acute myelogenous leukemia (AML).1 Uveitis is a rare finding with AML. In cases in which uveitis has been reported as a manifestation of AML, it has been identified most commonly as a sign of relapsing or progressing AML rather than as the initial presenting finding of previously undiagnosed AML.2–6 We report a patient with AML who presented with uveitis, optic disc edema, and an additional suggestive skin finding of granuloma annulare (GA).Fulminant idiopathic intracranial hypertension managed with oral acetazolamide
Idiopathic intracranial hypertension (IIH), also known as pseudotumour cerebri, is a syndrome of increased intracranial hypertension of unknown cause found predominantly in women of childbearing age and associated with an increased body mass index or a history of recent weight gain.1 The modified Dandy criteria for diagnosing IIH include (i) an imaging study confirming the absence of radiographic hydrocephalus or mass lesion, (ii) elevated cerebrospinal fluid (CSF) opening pressure (OP) upon lumbar puncture (LP) with normal CSF contents, and (iii) an intact neurologic examination with the exception of visual disturbances, sixth cranial nerve palsy, and papilledema.Bilateral posterior ischemic optic neuropathy associated with the use of Sildenafil for pulmonary hypertension
Sildenafil citrate is a selective phosphodiesterase (PDE)-5 inhibitor (PDE5i) and a partial PDE-6 inhibitor that enhances nitric oxide and cyclic guanosine monophosphate (cGMP), leading to smooth muscle relaxation. It has been used as an erectile dysfunction agent in men but also improves pulmonary hemodynamics and exercise capacity in symptomatic pulmonary arterial hypertension.1 PDE5i has been reported to cause transient changes in vision, colour perception (e.g., blue or blue-green tinges), brightness perception, and electroretinography.Neuro-ophthalmic presentations of clival plasmacytoma
Neurologically isolated cranial mononeuropathy (e.g., sixth nerve palsy) leading to diplopia is a common presentation to ophthalmologists. Although rare, clival lesions can cause isolated unilateral or bilateral abducens palsies with or without papilledema. Intracranial plasmacytomas (ICPC) are rare tumours that constitute less than 1% of intracranial neoplasms. They may present as a solitary plasmacytoma or may be part of a systemic malignant plasmacytosis, as in multiple myeloma (MM).Bilateral optic atrophy in endemic typhus
Murine typhus is an infectious disease caused by Rickettsia typhus. The disease is transmitted to humans by rat fleas through direct inoculation.1 Southeast Texas has one of the highest incidence rates of endemic typhus in the United States.2–5 Ophthalmic manifestations of murine typhus include vitritis, retinal lesions, and retinal vascular leakage.6–10 Optic neuropathy in the setting of murine typhus has been rarely described and only in the setting of disc edema or optic neuritis.8–11 We present a rare case of bilateral optic atrophy as the presenting ophthalmic sign of R.Temporal artery enhancement on cranial magnetic resonance imaging
A 68-year-old white female presented to her outside ophthalmologist with acute vision loss in the left eye (OS) described as a “green line across the top half of her vision” and dull pain OS. She then experienced progressive worsening of vision OS, pain with chewing, temple pain, and scalp tenderness. The visual acuity was 20/20 in the right eye (OD) and counting fingers at 1/2-foot distance OS. There was a left relative afferent pupillary defect and optic disc edema OS. The right optic nerve was normal, but the cup-to-disc ratio was 0.4 OD.Maintenance of pupillary response in a Glaucoma patient with no light perception due to persistence of melanopsin ganglion cells
Recent publications have demonstrated that a subpopulation of retinal ganglion cells (RGCs) that use melanopsin as a visual pigment termed intrinsically photosensitive RGCs or melanopsin RGC (mRGCs) may be more resistant to damage ocular hypertension, glaucoma and Leber hereditary optic neuropathy (LHON) as compared with conventional RGCs.1–5 Although the mRGCs comprise only approximately 0.2% of all ganglion cells, they have been shown to be important in the pupillary response. In this article, we report a patient with no light perception vision caused by secondary glaucoma with a partially retained pupillary response.Diffusion-weighted imaging in posterior ischemic optic neuropathy
Diffusion-weighted imaging (DWI) is a magnetic resonance imaging (MRI) sequence that provides image contrast dependent on the molecular motion of water. Acute ischemia in the central nervous system (CNS) results in disruption of normal cellular metabolism with depletion of ATP causing failure of Na+/K+ ATPase ionic pumps with loss of ionic gradients across cellular membranes. This causes cytotoxic edema with a net shift of water from the extracellular to the intracellular space and changes in the relative volume of these compartments, as well as alterations in their microenvironments.Paraneoplastic optic neuropathy and retinopathy associated with colon adenocarcinoma
A 62-year-old Hispanic female with no prior history of malignancy presented with 3-year history of painless, simultaneous, and progressive bilateral constriction of her visual fields. The patient was otherwise healthy and denied hematochezia, melena, or changes in bowel habit. During this 3-year period, the patient was evaluated by multiple ophthalmologists, but no clear or formal diagnosis was made. Initial examination 3 years before presentation to us showed optic disc edema OU and mild generalized constriction of visual fields OU.Atonic pupils secondary to presumed systemic vasopressor-related ischemia
A 49-year-old male presented with blurred vision and bilaterally dilated pupils after suffering cardiac arrest following cardiac surgery. Medical history was significant for mitral valve regurgitation and idiopathic hypertrophic cardiomyopathy requiring mitral valve repair and septal myectomy.Pallid disc edema and choroidal perfusion delay in posthemodialysis nonarteritic ischemic optic neuropathy
Nonarteritic anterior ischemic optic neuropathy (NAION) is a rare but recognized ophthalmic complication in patients with end-stage renal disease (ESRD) on chronic hemodialysis characterized by unilateral or bilateral acute visual loss.1 Anemia, concomitant vasculopathic risk factors (i.e., diabetes, atherosclerosis), autonomic dysfunction, the hypotensive effect of hemodialysis, and physiologically small cup-to-disc ratios are among the predisposing factors to the development of ischemic optic neuropathy (ION) in this patient population.Radiographic evidence for denervation atrophy of extraocular muscles due to chronic intracavernous compressive third nerve palsy
Case 1: A male in his 70s noted chronic progressive painless diplopia. His right pupil was larger and less reactive to light than his left as a teenager, but he was asymptomatic. Photographs revealed exotropia during his 30s. Ophthalmologic evaluation was suggestive of right third nerve palsy.Intracranial complications of idiopathic intracranial hypertension
We report a case of idiopathic intracranial hypertension (IIH) with cerebral venous sinus thrombosis (CVST) and subarachnoid hemorrhage that developed 6 months after initial presentation.Visual hallucinations (Charles Bonnet syndrome) as the presenting sign of pituitary adenoma
Visual hallucinations are a rare presenting sign of pituitary adenomas. We report a patient who presented with the Charles Bonnet syndrome (CBS) whose hallucinations resolved following transsphenoidal resection of a pituitary adenoma. To our knowledge, this is the first such case in the English language literature.
