Posters

Maculopathy, fundus changes and anterior lenticonus in Alport’s syndrome: case report

Poster Details

First Author: A.Pidro BOSNIA AND HERZEGOVINA

Co Author(s):    M. Ratković   A. Pidro                 

Abstract Details

Purpose:

To present a 51 years old male patient with Alport’s syndrome who was diagnosed due to the ocular manifestations (dot-and-fleck retinopathy, maculopathy and anterior lenticonus).Presented ocular abnormalities were later combined with his general health history of renal failure and bilateral sensorineural hearing loss, as well as genetic analysis.

Setting:

Eye Clinic Svjetlost Sarajevo, Eye Clinic Svjetlost Zagreb.

Methods:

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.

Results:

Male sex combined with ophthalmological finding 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 clinical diagnosis of Alport's syndrome with classical triad: hemorrhagic nephritis, sensorineural hearing loss and characteristic ocular findings. Genetic analysis confirmed the diagnosis and mutation in COL4A5 gene on X chromosome. There is no expected night blindness nore visual impairment from the retinal involvement. Patient underwent cataract surgery for clear lens extraction of the unopacified lens with anterior lenticonus.

Conclusions:

Alport syndrome affects multiple organs, including the eye. Sometimes, like in this case, ocular manifestations can help to give patient right diagnosis and help in multisystemic diseases assessment. Visual acuity can be improved with clear lens exchange due to the anterior lenticonus that causes myopia. Nephrologist should be informed about potential development of a specific antiglomerular basement membrane antibody (anti-GBM) that may lead to graft rejection. Patient's close relatives should be examined.

Financial Disclosure:

None