Hadassah-Hebrew University Medical Center, Department of Ophthalmology, Jerusalem, Israel.
Hadassah-Hebrew University Medical Center, Department of Genetics and Metabolic Diseases, Jerusalem, Israel.
Turk J Ophthalmol. 2020 Dec 29;50(6):387-389. doi: 10.4274/tjo.galenos.2020.33858.
Stickler syndrome is known to cause visual handicap due to the high incidence of retinal detachment. We aim to present an unusual case of a child with Stickler syndrome who had progressive visual loss secondary to atrophy of the outer retinal layers not associated with retinal detachment. This is a descriptive case report of a 9-year-old child with ocular history of high myopia who presented to our institution with suboptimal visual acuity in both eyes. After 2 years of follow up, he developed unilateral progressive visual loss with marked atrophy of the outer retinal layers and peripheral vascular leakage. Such a presentation has not been previously described in the literature to the best of our knowledge.
斯特格病已知会因视网膜脱离的高发率而导致视力障碍。我们旨在呈现一个不寻常的案例，一个患有斯特格病的儿童，由于外视网膜层的萎缩而导致视力逐渐下降，而没有与视网膜脱离相关。这是一个描述性的病例报告，涉及一个 9 岁的儿童，他有高度近视的眼部病史，在我们的机构就诊时双眼视力不佳。经过 2 年的随访，他出现单侧进行性视力下降，伴有明显的外视网膜层萎缩和周边血管渗漏。据我们所知，这种表现以前在文献中没有描述过。
