Galloway-Mowat syndrome with retinal involvement associated with a novel WDR73 variant: case report and review of the literature

Introduction Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder classically characterized by central nervous system and renal abnormalities. Optic atrophy has been reported as a common ophthalmic feature, and other characteristics, including nystagmus, strabismus, oculomotor apraxia, and retinopathy have been reported; however, data on retinal involvement and dysfunction is limited. In this case report, we aim to describe retinal findings in a female adolescent diagnosed with GAMOS due to a homozygous variant in the WDR73 gene.