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Anterior lenticonus in Alport’s Syndrome: case report

Poster Details


First Author: M.Ratković CROATIA

Co Author(s): A. Pidro                    

Abstract Details

Purpose:

To present a 51 years old male patient with anterior lenticonus, maculopathy and dot-and-fleck retinopathy. 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:

The patient underwent diagnostic and therapeutic procedures in Eye Clinic Svjetlost in Zagreb from march 2014. to june 2014.

Methods:

51 years old male patient presented 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. Patient underwent cataract surgery for clear lens extraction of the unopacified lens with anterior lenticonus. Further genetic analysis revealed mutation in COL4A5 gene on X chromosome.

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.

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. There is no expected night blindness nore visual impairment from the retinal involvement. 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

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