Boutaj Taha, Lazaar Hamza, Amazouzi Abdellah, Tachfouti Samira, Cherkaoui Lalla Ouafa
Ophthalmology, Hospital des Specialités de Rabat, Rabat, MAR.
Ophthalmology, Mohammed V University, Hospital des Specialités de Rabat, Rabat, MAR.
Cureus. 2024 Apr 10;16(4):e57976. doi: 10.7759/cureus.57976. eCollection 2024 Apr.
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.
索斯比黄斑营养不良是一种常染色体显性疾病，继发于22q12区TIMP3基因的杂合突变。它始于视网膜色素上皮下细小、苍白、类似玻璃膜疣的沉积物，或融合的淡黄色物质或薄片，但最终会在生命的第四个十年左右发展为地图样萎缩伴色素团块或脉络膜新生血管膜形成的瘢痕。我们描述了一名患者，其表现为单眼视力进行性丧失，曾被误诊为感染性或炎症性疾病。
