Atypical Presentation Revealing Sorsby Macular Dystrophy: A Case Report

Sorsby macular dystrophy is an autosomal dominant disorder secondary to heterozygous mutations in the TIMP3 gene in 22q12. It begins with fine, pale, drusen-like deposits or confluent, faint yellow material or sheets beneath the retinal pigment epithelium, but it eventually progresses to either geog...

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Published in:Cureus 2024, Vol.16 (4), p.e57976-e57976
Main Authors: Boutaj, Taha, Lazaar, Hamza, Amazouzi, Abdellah, Tachfouti, Samira, Cherkaoui, Lalla Ouafa
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Lazaar, Hamza
Amazouzi, Abdellah
Tachfouti, Samira
Cherkaoui, Lalla Ouafa
description Sorsby macular dystrophy is an autosomal dominant disorder secondary to heterozygous mutations in the TIMP3 gene in 22q12. It begins with fine, pale, drusen-like deposits or confluent, faint yellow material or sheets beneath the retinal pigment epithelium, but it eventually progresses to either geographic atrophy with pigmentary clumps or scars due to the choroidal neovascular membrane around the fourth decade of life. We describe a patient who presented with a progressive loss of unilateral visual acuity, wrongly suggesting an infectious or inflammatory disease.
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title Atypical Presentation Revealing Sorsby Macular Dystrophy: A Case Report
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