Dotan Gad, Khetan Vikas, Marshall Jan D, Affel Elizabeth, Armiger-George Denise, Naggert Jürgen K, Collin Gayle B, Levin Alex V
a Ophthalmology Department, Tel Aviv Medical Center, Sackler School of Medicine , Tel Aviv University , Tel Aviv , Israel.
b Pediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital , Philadelphia , Pennsylvania , USA.
Ophthalmic Genet. 2017 Sep-Oct;38(5):440-445. doi: 10.1080/13816810.2016.1257029. Epub 2017 Jan 23.
Alström syndrome is a multi-system recessive disorder caused by mutations in ALMS1 gene. The aim of this study was to characterize morphological retinal changes in Alström patients using spectral-domain optical coherence tomography.
We studied volunteer patients attending the conference of Alström Syndrome International, a support group for affected families, using hand-held spectral-domain optical coherence tomography (SD-OCT) in an office setting. Patients had a clinical dilated retinal examination. Past medical records were reviewed.
Twenty-two Alström patients (mean age 17 years, range 2-38 years, 12 males) were studied. OCT imaging demonstrated that central macular OCT changes are often mild during the first decade of life and gradually progress, demonstrating disruption of normal retinal architecture, and progressive loss of photoreceptors and retinal pigment epithelium. Other changes found included hyperreflectivities in all retinal layers, severe retinal wrinkling, optic nerve drusen, and vitreoretinal separation. Vision correlated with severity of OCT macular changes (r = 0.89, p = 0.002).
This study reports on OCT findings in a large group of patients with Alström syndrome. We document a panretinal gradual progression of retinal changes, which are often mild during the first years of life. Previously unreported observations include intraretinal opacities, optic nerve drusen, and foveal contour abnormalities. Morphological retinal changes demonstrated by SD-OCT may help in understanding the pathophysiology of the disease and defining strategies for treatment such as gene therapy.
阿尔斯特伦综合征是一种由ALMS1基因突变引起的多系统隐性疾病。本研究的目的是使用光谱域光学相干断层扫描来描述阿尔斯特伦综合征患者视网膜的形态学变化。
我们在办公室环境中使用手持式光谱域光学相干断层扫描（SD-OCT）对参加阿尔斯特伦综合征国际会议的志愿者患者进行了研究，该会议是一个为受影响家庭提供支持的组织。患者接受了临床散瞳视网膜检查。回顾了既往病历。
研究了22例阿尔斯特伦综合征患者（平均年龄17岁，范围2 - 38岁，12例男性）。OCT成像显示，在生命的第一个十年中，中心黄斑OCT变化通常较轻，并逐渐进展，表现为正常视网膜结构破坏，以及光感受器和视网膜色素上皮的逐渐丧失。发现的其他变化包括所有视网膜层的高反射率、严重的视网膜皱襞、视神经小疣和玻璃体视网膜分离。视力与OCT黄斑变化的严重程度相关（r = 0.89，p = 0.002）。
本研究报告了一大组阿尔斯特伦综合征患者的OCT检查结果。我们记录了视网膜变化的全视网膜逐渐进展情况，这些变化在生命的最初几年通常较轻。以前未报告的观察结果包括视网膜内混浊、视神经小疣和黄斑轮廓异常。SD-OCT显示的视网膜形态学变化可能有助于理解该疾病的病理生理学，并确定基因治疗等治疗策略。
