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Autoimmune retinopathy (AIR) encompasses a spectrum of rare autoimmune diseases, including cancer-associated retinopathy and nonparaneoplastic-associated retinopathy, which primarily affect retinal photoreceptor function, and melanoma-associated retinopathy (MAR), which primarily affects bipolar cell function. Clinical features include panretinal degeneration with no or little pigment deposition, progressive visual field deficits, and photopsias with or without a history of carcinoma or melanoma at the time of ocular presentation.
We report a case of AIR that has remained unilateral during an observation period of over 3 years.
A squamous cell carcinoma was resected from the month and tongue of a 50-year-old male with an extensive history of cigarette smoking and alcohol consumption. At the time of resection, there was no evidence of systemic disease and the patient did not undergo any radiation or systemic chemotherapy. The patient presented 11 years later with a visual acuity of 20/20 OU and a chief complaint of a small central scotoma in only his right eye. Fundus examination revealed macular granularity and attenuation of the arteries and veins (Fig. 1). Loss of the I1e isopter, scattered central scotomas to the I4e isopter, and irregular constriction of the I2e and I4e isopters was seen on Goldmann visual fields (GVFs; Fig. 1). Optical coherence tomography (OCT; Heidelberg Spectralis, Heidelberg, Germany) displayed diffuse disruption of the photoreceptor inner segment–outer segment junction and diffuse thinning of all retinal layers throughout the macula; OCT of the left eye was normal (Fig. 2). The intraocular pressure was 18 and 17 mm Hg in the right and left eyes, respectively. Fundus autofluorescence and intravenous fluorescein angiography did not reveal any significant abnormal findings in either eye.
Full-field electroretinogram (ERG) displayed flat cone and rod responses with a severely attenuated maximal combined response in the right eye with normal responses in the left eye. Multifocal ERG (mfERG) demonstrated a severely attenuated response in the right eye with normal waveforms in the left eye. Anti-retinal antibodies (Ocular Immunology Lab, Oregon Health & Science University, Portland, Oregon) were positive for enolase (46-kDa), aldolase (40-kDa), arrestin (48-kDa), and carbonic anhydrase II (30-kDa), but negative for recoverin (23-kDa). Subsequent work-up revealed a negative computed tomography scan of the head, neck, and chest for systemic metastasis, negative dental evaluation for local recurrence, and negative internal medicine work-up for occult metastasis. Over the course of 3 years, his left eye remained unaffected with normal visual acuity, GVF, OCT, full-field ERG, mfERG, and fundus autofluorescence.
Our case is most consistent with a diagnosis of AIR given the history of carcinoma, visual field loss, photoreceptor abnormalities, significant cone and rod reduction on ERG, and positive anti-retinal antibodies. This is unique given the unilateral pathology despite 3 years of monitoring. To the best of our knowledge, there are only 2 other reported cases of unilateral AIR in the ophthalmic literature: a case of MAR
; however, our case demonstrates flat cone and rod responses in the affected eye. The rod ERG findings in our case may be related to relative contributions from additional anti-retinal antibodies like arrestin (48-kDa), which is highly abundant in rod photoreceptors.
In addition, it known that arrestin serves as both a single-photon response quencher and an instrument of rod cell survival in bright light, and loss of arrestin may lead to rod photoreceptor cell death.
These factors are postulated to contribute to the abnormal ERG rod response seen in our case.
The diagnosis of AIR remains a clinical challenge because of its rare incidence, frequent dissociation between symptoms and signs, limited access to necessary investigations for diagnosis, and absence of an evidence-based treatment strategy. It is possible, although highly unlikely, that our case contained some damage to the contralateral eye despite the asymptomatic nature and negative diagnostic testing of this eye.
Our work fully adhered to the Declaration of Helsinki and all federal and state laws.
This work was supported by the Retina Foundation of Canada (D.A.), Department of Veterans Affairs, Rehabilitation Research and Development Division, Department of Defense (Telemedicine & Advanced Technology Research Center) (R.K.), and National Eye Institute (R.K.).