Routine Fundoscopy Uncovering Wolfram Syndrome in a Diabetic Patient: A Case Report

TL;DR

A diabetic patient's eye exam revealed Wolfram syndrome, a rare genetic disorder, highlighting the importance of thorough evaluations for atypical symptoms.

Contribution

This case report highlights Wolfram syndrome as a critical differential diagnosis in young patients with optic atrophy, hearing loss, and diabetes.

Findings

Fundoscopy revealed optic disc pallor and optic atrophy without diabetic retinopathy.

Neuroimaging showed posterior pituitary agenesis and endocrine evaluation confirmed diabetes insipidus.

The case supports a diagnosis of Wolfram syndrome based on sensorineural deafness, diabetes mellitus, and optic atrophy.

Abstract

Wolfram syndrome is a rare inherited neurodegenerative disorder, in which early ophthalmologic abnormalities may provide the initial diagnostic clue. In this article, we report the case of a 20-year-old male with early‐onset bilateral deafness and insulin-dependent diabetes mellitus who was referred for evaluation of possible diabetic retinopathy. He reported no visual complaints at the time of presentation. Examination showed a visual acuity of 2/10 bilaterally, and optic disc pallor on fundoscopy without diabetic retinopathy. Further complementary testing revealed diffuse visual field defects and marked retinal nerve fiber layer (RNFL) thinning on optical coherence tomography (OCT), consistent with optic atrophy. Neuroimaging showed posterior pituitary agenesis, and subsequent endocrine evaluation confirmed diabetes insipidus. Taken together with the patient’s sensorineural deafness and diabetes mellitus, these findings strongly supported the diagnosis of Wolfram syndrome. Genetic testing was advised but not performed due to financial limitations. Ophthalmic management consisted of vitamin supplementation, low-vision rehabilitation, and scheduled follow-up. Given the multisystemic nature of the disease, multidisciplinary follow-up was implemented. This case emphasizes the importance of broad systemic workup in young individuals with atypical ocular findings and highlights Wolfram syndrome as a key differential diagnosis when optic atrophy is accompanied by hearing loss or diabetes mellitus.

Figures