Fundus albipunctatus-like retinopathy in hypovitaminosis A-related optic neuropathy with skull hyperostosis

A young man presented with progressive night blindness, optic neuropathy and bilateral retinal flecks, initially suggestive of an inherited retinal dystrophy. Genetic testing identified a heterozygous pathogenic variant in USH2A alongside multiple variants of uncertain significance, none of which fully explained the phenotype. Further investigation revealed severe vitamin A deficiency and cranial hyperostosis with narrowing of the optic canals. Retinal findings improved following vitamin A supplementation. This case illustrates the diagnostic complexity of retinal dystrophies, emphasises the need for a multidisciplinary approach by integrating findings from various specialties, including ophthalmology, neurology, medical genetics and neurosurgery, even in patients with genetic findings of potential relevance. Moreover, it highlights vitamin A deficiency as a reversible cause of retinal pathology.