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Unmasking Knobloch Syndrome: Diagnostic Nuances, OCT Features, and Surgical Innovations in Retinal Detachment Repair
1. Executive Summary & Clinical Context Knobloch Syndrome (KNO; OMIM #267750) is a severe, autosomal recessive developmental disorder caused by biallelic loss-of-function variants in COL18A1, the gene encoding the alpha-1 chain…


















