OSLI Retina

December 2020

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December 2020 · Vol. 51, No. 12 723 ■ C A S E R E P O R T ■ Anti-Retinal Antibodies in Vitamin A Deficiency Michael P. Ellis, MD; Melinda Y. Chang, MD; Glenn Yiu, MD, PhD ABSTRACT: Vitamin A is an important component of the visual cycle, and its deficiency causes a reti- nal degeneration that may be reversed with retinol supplementation. Here, the authors present a pa- tient with vitamin A deficiency and rod-mediated retinopathy who was found to have multiple anti- retinal antibodies that gradually dissipated after vitamin A supplementation. This interesting case suggests the possibility that the photoreceptor de- generation induced by vitamin A deficiency may lead to transient immune exposure to retinal anti- gens and development of anti-retinal antibodies. [Ophthalmic Surg Lasers Imaging Retina. 2020;51:723-726.] INTRODUCTION Anti-retinal antibodies are often used in the diag- nosis of autoimmune, cancer-associated, and mela- noma-associated retinopathies. 1 Although detection of these autoantibodies is neither sensitive nor spe- cific, 2 with anti-retinal reactivity detectable in up to one-third of normal sera, 3 antibodies against certain antigens such as recoverin may improve the specific- ity of the diagnosis. Here, we present a patient with vitamin A deficiency who was found to have anti- retinal antibodies, but whose antibody repertoire diminished after vitamin A supplementation. We hypothesize that the humoral immune response may be triggered by the retinal degeneration induced by vitamin A deficiency. CASE REPORT A 64-year-old woman with new visual field dis- turbance, xanthopsia (yellow-tinged vision), and nyc- talopia was referred for evaluation of possible auto- immune retinopathy. Due to her history of recurrent breast cancer after mastectomy and radiation therapy, autoantibody testing had been obtained by the refer- ring physician, and revealed several anti-retinal an- tibodies detected on Western blot (30-kDa, 34-kDa, 36-kDa, 42-kDa, and 46-kDa) and immunoreactivity identified for enolase, HSP60, TULP1, and GAPDH. Slit-lamp examination revealed Bitot's spots (Figure 1A), although dilated funduscopic exam showed no apparent abnormalities. Automated visual field test- ing demonstrated bilateral constriction (Figure 2A), and electroretinography (ERG) showed reduced sco- topic responses in both eyes (Figure 3A). Upon fur- ther questioning, the patient reported a history of multiple gastrointestinal surgeries including small bowel resection after an obstruction. Serum test- ing revealed less than 0.06 mg/L vitamin A (normal range: 0.3 mg/L to 1.2 mg/L), confirming vitamin A deficiency. The patient was given intramuscular vita- min A injections (50,000 IU/day) for 5 days, followed by daily oral vitamin A supplementation (10,000 IU/ day), with rapid improvement in symptoms and reso- lution of clinical, visual field, and scotopic ERG find- ings after 3 months (Figures 1B, 2B, and 3B). Repeat serum testing showed increased vitamin A levels to 0.3 mg/L, and reduction in anti-retinal antibody rep- ertoire on Western blot (30-kDa and 42-kDa), but per- From the Department of Ophthalmology & Vision Sciences, University of California, Davis, Sacramento, California (MPE, GY); and University of South- ern California Roski Eye Institute, Los Angeles, Los Angeles, California (MYC). Originally submitted August 19, 2020. Revision received August 19, 2020. Accepted for publication October 7, 2020. Presented at the Macula Society Annual Meeting in London, United King- dom, on September 11, 2019. Dr. Yiu is supported by NIH K08 EY026101, NIH R21 EY031108, the Bright- Focus Foundation, and the Macula Society. He also has research support from Clearside Biomedical and Iridex, and is a consultant for Allergan, Alimera, Carl Zeiss Meditec, Clearside Biomedical, Genentech, Iridex, Top- con, and Verily. Dr. Ellis reports no relevant financial disclosures. Dr. Chang has received grants from Knights Templar Eye Foundation, Children's Eye Foundation of AAPOS, and Research to Prevent Blindness outside the submitted work. Address correspondence to Glenn Yiu, MD, PhD, University of California, Davis, 4860 Y Street, Suite 2400, Sacramento, CA 95817; email: gyiu@ ucdavis.edu. doi: 10.3928/23258160-20201202-07

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