Case Reports in Ophthalmological Medicine (Jan 2024)
Optic Neuropathy AFG3L2 Related in a Patient Affected by Congenital Stationary Night Blindness
Abstract
Clinical Relevance: The clinical evidence of optic atrophy, which is atypical in CSNB, should raise the suspicion of concomitant hereditary optic neuropathy and emphasize the importance of broad genetic diagnostic testing to better define the genotype–phenotype correlation.