Li Alexa L, Borooah Shyamanga, Nudleman Eric
Shiley Eye Institute, Department of Ophthalmology, University of California at San Diego, La Jolla, CA, USA.
Am J Ophthalmol Case Rep. 2022 Jan 20;25:101284. doi: 10.1016/j.ajoc.2022.101284. eCollection 2022 Mar.
To report multimodal imaging of novel retinal findings in a case of syndactyly, telecanthus, anogenital, and renal malformations (STAR) syndrome.
A 5-year old patient with STAR syndrome, an ultra-rare developmental disorder composed of syndactyly, telecanthus, anogenital, and renal malformations, was found to have bilateral macular yellow pigmentary changes and peripheral retinal pigment epithelial changes in a radial pattern highlighted by fundus autofluorescence (FAF) imaging. Optical coherence tomography (OCT) of the macula revealed foveal hypoplasia, ellipsoid zone disruption, and outer retinal atrophy suggestive of a retinal degeneration. OCT angiography found no significant abnormalities, and oral fluorescein angiography revealed staining in areas of atrophy in both eyes.
This case displays the first report of multimodal imaging of retinal manifestations in STAR syndrome, revealing bilateral foveal hypoplasia, outer retinal macular atrophy, and peripheral retinal pigment epithelial changes. Further studies and long-term follow-up are warranted to determine if patients with STAR syndrome have an underlying progressive retinal degeneration.
报告一例并指（趾）、内眦距增宽、肛门生殖器及肾脏畸形（STAR）综合征患者视网膜新发现的多模态成像情况。
一名患有STAR综合征的5岁患者，这是一种由并指（趾）、内眦距增宽、肛门生殖器及肾脏畸形组成的超罕见发育障碍疾病，通过眼底自发荧光（FAF）成像发现其双侧黄斑区有黄色色素沉着改变，周边视网膜色素上皮呈放射状改变。黄斑区光学相干断层扫描（OCT）显示中央凹发育不全、椭圆体带破坏及外层视网膜萎缩，提示存在视网膜变性。OCT血管造影未发现明显异常，口服荧光素血管造影显示双眼萎缩区域有染色。
本病例首次报告了STAR综合征视网膜表现的多模态成像情况，揭示了双侧中央凹发育不全、外层视网膜黄斑萎缩及周边视网膜色素上皮改变。有必要进行进一步研究和长期随访，以确定STAR综合征患者是否存在潜在的进行性视网膜变性。
