Maculopathy, Fundus Changes and Anterior Lenticonus in Alport Syndrome

Abstract

Alport syndrome is a rare basement membrane disorder that may include ocular manifestations: dot-and-fleck retinopathy, anterior lenticonus, posterior polymorphous corneal dystrophy, or temporal macular thinning. It is primarily an X-linked inheritance condition (85%). This case report describes a 51-year-old male patient with Alport syndrome who was diagnosed due to ocular manifestations that were subsequently linked with a history of renal failure and bilateral sensorineural hearing loss. The diagnostic tools used were biomicroscopy, ultrasound, corneal topography, endothelial microscope analysis, macula optical coherence tomography, and fundus photography. Clear lens extraction was performed and improved his visual acuity. Further genetic analysis revealed a mutation in the COL4A5 gene on the X chromosome. Ocular manifestations can help determine the right diagnosis and help in multisystemic disease assessment. In cases of Alport syndrome, a nephrologist should be informed about the potential development of a specific antiglomerular basement membrane antibody that may lead to graft rejection. The patient's close relatives should also be examined.