This 64YO man presented with 1 year of gradual severe bilateral vision loss. Vision was counting fingers at 5 feet OU.
Retinal examinations showed fine subretinal pigmentary changes with tiny whitish dots throughout the extramacular retina, best visualized as hypoautofluorescent spots on Optos ultra-widefield autofluorescence.
Triton swept-source OCT shows profound loss of the outer segment layers.
The patient denied any systemic diseases or current medications, though he admitted he hadn’t been to a physician in years. He appeared in poor health and malnourished, so we ordered nutritional testing, including folate, B12, vitamin A, antiretinal antibodies, and Invitae genetic testing.
All tests were negative except for a decreased Vitamin A level. He subsequently started daily vitamin A supplementation at 20,000 IU, and after a few weeks, his vision improved to 20/400 OD and 20/200 OS without funduscopic or OCT changes.
Learning Points:
Vitamin A deficiency is rare in the United States and is sometimes related to malabsorption in chronic pancreatitis or inflammatory bowel disease. It leads to several well-documented ocular complications, including nyctalopia, Bitot spots, and xanthopsia.
Outer nuclear layer thinning with disruption of the outer retinal bands can be visualized on OCT (Berkenstock et al, Int J Retin Vitr 2020;6:23).
Oral or intramuscular vitamin A replacement has been shown to reverse the retinal changes if initiated early enough. We hope our patient’s vision and retinal findings will improve with continued treatment.
