Fundus albipunctatus-like retinopathy in hypovitaminosis A-related optic neuropathy with skull hyperostosis.
Adam Tomasz Chmiel, Maria Franca, Ana Luísa Carvalho et al.
✦ AI-curated · Sources linked
Case in brief
A young man presented with progressive night blindness, optic neuropathy, and bilateral retinal flecks, initially thought to indicate an inherited retinal dystrophy. Genetic testing revealed a pathogenic variant in USH2A, but further evaluation uncovered severe vitamin A deficiency and cranial hyperostosis. Following vitamin A supplementation, the retinal findings improved, demonstrating the importance of comprehensive assessment.
What made this case unusual
The case highlights the rare association of vitamin A deficiency with optic neuropathy and retinal pathology, which can mimic inherited retinal dystrophies.
Diagnostic / clinical pearl
Clinicians should consider vitamin A deficiency as a reversible cause of retinal pathology, especially when faced with complex cases of suspected inherited retinal dystrophies.
Why it matters
This case underscores the necessity of a multidisciplinary approach in diagnosing retinal conditions, integrating insights from various specialties to ensure comprehensive patient care.