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Maculopathy, fundus changes and anterior lenticonus in Alport syndrome

Poster Details


Co Author(s):    A. Pidro                    

Abstract Details


Alport syndrome is a rare basement membrane disorder with ocular manifestations: dot-and-fleck retinopathy, anterior lenticonus, posterior polymorphous corneal dystrophy and temporal macular thinning. The inheritance is predominantly X-linked (85%). The purpose of this case report is to presents a 51-year-old male patient with Alportï¾’s syndrome who was diagnosed due to his ocular manifestations which were later combined with his history of renal failure and bilateral sensorineural hearing loss.


A 51-year-old male patient was presented to the Department of Ophthalmology at General hospital Prim. dr. Abdulah Nakas; with high progressive myopia of the left eye. Prior trauma of the right eye led to blindness.


Biomicroscopy, ultrasound, corneal topography, endothelial microscope, macula OCT scan, and fundus photography were diagnostic tools to differ lental myopia, maculopathy with temporal macular thinning, and dot-and-fleck retinopathy. The patient underwent cataract surgery for clear lens extraction of the unopacified lens with anterior lenticonus. Further genetic analysis was ordered.


Male sex combined with the ophthalmological findings of the dot-and-flack retinopathy, temporal macular thinning and anterior lenticonus with the medical history of renal failure, renal transplantation and sensorineural hearing loss gave a clinical diagnosis of Alport syndrome with the classical triad: hemorrhagic nephritis, sensorineural hearing loss and characteristic ocular findings. Visual acuity after the clear lens extraction was improved. Genetic analysis confirmed the diagnosis and mutation in COL4A5 gene on X chromosome


Alport syndrome affects multiple organs, including the eye. Sometimes, like in this case, ocular manifestations can help to provide the right diagnosis and help in multisystemic disease assessment. There is no expected night blindness nor visual impairment from the retinal involvement. Visual acuity can be improved with clear lens exchange due to the anterior lenticonus that causes myopia. A nephrologist should be informed about the potential development of a specific anti-glomerular basement membrane antibody (anti-GBM) that may lead to graft rejection. The patient's close relatives should be examined.

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