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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Bibliographic Details
Published in:Curēus (Palo Alto, CA) CA), 2024-04, Vol.16 (4), p.e57976
Main Authors: Boutaj, Taha, Lazaar, Hamza, Amazouzi, Abdellah, Tachfouti, Samira, Cherkaoui, Lalla Ouafa
Format: Article
Language:English
Subjects:
Blood vessels
Case reports
Edema
Genetic testing
Inflammatory diseases
Medical imaging
Mutation
Ophthalmology
Tomography
Vascular endothelial growth factor
Visual acuity
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Summary: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.
ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.57976