Ocular manifestations of vitamin A deficiency in gastrointestinal and hepatobiliary disease.

Abstract

Purpose: To characterize clinical features, risk factors, and outcomes of vitamin A deficiency (VAD) among patients with gastrointestinal (GI) and/or hepatobiliary comorbidities.

Methods: This retrospective study examined patients with GI or hepatobiliary disease who presented with ocular manifestations of VAD. Extracted data included patient demographics, underlying GI or hepatobiliary diagnoses, serum vitamin A levels, ophthalmic symptoms and examination findings, imaging features, and response to vitamin A repletion.

Results: 26 eyes from 13 patients were included. The most common systemic comorbidities were fatty liver disease (38.5%), prior gastric bypass surgery (23.1%), and cirrhosis (23.1%). Median serum vitamin A level at diagnosis was 19.1 mcg/dL (range, 2.5-36.1 mcg/dL, reference range 38-72 mcg/dL). Median presenting best visual corrected acuity (BCVA) was 20/50 (logmar 0.44, range, 20/20-light perception). Twenty-two eyes (84.6%) demonstrated anterior segment manifestations of VAD, including four eyes (15.4%) who presented with bilateral corneal ulceration and perforation. Posterior segment findings were present in 16 eyes (61.5%), including subretinal drusenoid deposits, RPE mottling, placoid macular changes, optic neuropathy, and a full-thickness macular hole. All patients reported bilateral vision loss, with 63.6% endorsing nyctalopia. All patients who underwent vitamin A repletion experienced subjective visual improvement and partial or complete resolution of ophthalmic findings, including regression of anterior and posterior segment pathology.

Conclusions: Vitamin A deficiency occurs across a wide spectrum of GI and hepatobiliary diseases and is associated with diverse anterior and posterior segment ocular findings, ranging from subtle surface disease to severe, vision-threatening pathology. Visual symptoms and ocular findings improved following vitamin A repletion, highlighting the preventable and reversible nature of this condition when identified early. Given the risk of irreversible ocular sequelae with delayed diagnosis, serum vitamin A assessment with timely repletion should be considered in patients with at-risk gastrointestinal and hepatobiliary conditions. Early identification through multidisciplinary care may prevent avoidable, vision-threatening ocular complications.