An International Publisher for Academic and Scientific Journals
Author Login
Scholars Journal of Medical Case Reports | Volume-14 | Issue-03
Atypical Presentation Revealing Sorsby Macular Dystrophy: A Case Report
C. El Ouadoudi, H. Mouhajar, S. Louaya
Published: March 19, 2026 |
3
3
Pages: 464-466
Downloads
Abstract
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.


