This 10YO boy presented with bilateral nyctalopia and vision loss. Vision was counting fingers OD and 20/100 OS. Identical findings were noted bilaterally, so only the images for the right eye are shown.
Bitot’s spots were observed on the temporal conjunctiva. Innumerable yellow-white subretinal deposits extend from the peripheral macula into the periphery. OCT scanning shows blurred detail of the outer segment bands due to diffuse deposition of this hyperreflective material.
On further questioning, our patient comes from a low socioeconomic environment with a diet consisting of french fries and pasta. Fasting serum vitamin A was severely low at <0.11 mg/L (normal 0.13-0.81), and supplemental oral vitamin A therapy was begun.
Six months later, vision improved to 20/70 OD and 20/30 OS with complete resolution of his nyctalopia. The conjunctival lesions and subretinal deposits had dramatically improved.
Learning Points:
Vitamin A deficiency is rare in developed countries 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). The outer retinal white dots colocalize to OCT outer retinal hyperreflective lesions (Aleman et al, Doc Ophthalmol 2013;127:239-243). Oral or intramuscular vitamin A replacement can reverse the retinal changes if initiated early enough.
