Genetic Insights into Alport Syndrome: A Case Report Highlighting COL4A3 Mutation and Ocular Phenotype

Abstract

Alport syndrome is a hereditary disorder characterized by ocular abnormalities, sensorineural hearing loss, and progressive renal involvement. We report a case of a 19-year-old female who presented with complaints of infrequent flashes of light in the left eye. Ophthalmic evaluation revealed high myopia, anterior lenticonus confirmed by anterior segment optical coherence tomography (AS-OCT), and temporal macular thinning on macular OCT. Systemic workup demonstrated bilateral moderate sensorineural hearing loss and severe proteinuria, with normal renal function. Genetic testing identified a probable compound heterozygous pathogenic variant in the COL4A3 gene, confirming autosomal recessive Alport syndrome. This case underscores the pivotal role of detailed ophthalmic examination as an early diagnostic clue and highlights genetic analysis as an essential tool for definitive diagnosis, prognostication, and guiding multidisciplinary management.