Supplementary Material for: An unusual retinal presentation of a novel COL11A1 mutation: A case report.

Introduction:
Stickler syndrome is a rare collagenopathy, caused by mutations in various genes coding for fibrillar collagens II, IX and XI. The disorder can be subdivided into different groups, depending on the genes affected and clinical features found in patients. Ocular symptoms, such as high myopia, retinal detachments, or anomalies in the vitreous, are present in most forms of Stickler syndrome. In this case report, we present a patient with an unusual retinal phenotype. Case presentation:
Subject of this case report is a 33-year-old woman, who was examined at the Department of Ophthalmology at Medical University of Graz. A thorough ophthalmological examination was conducted, detailed medical and family history acquired, and genetic testing performed. Best corrected visual acuity was 20/20 on both eyes, however, impaired binocular vision associated with intermittent exotropia were found. Furthermore, dilated fundoscopy showed an unusual, hypopigmented spotted retinal phenotype. Fundus autofluorescence showed multiple hyperfluorescent spots corresponding with the spotted retinal appearance. Genetic testing revealed a novel variant in the gene COL11A1. No other ocular abnormalities which are associated with COL11A1 were found.
Conclusions:
Several subtypes of Stickler syndrome have been reported in medical literature, greatly varying in clinical manifestations. Many different mutations in the gene COL11A1 have been discovered and are typically associated with Stickler syndrome type 2. To our best knowledge, this is the first report of a patient with a mutation in the COL11A1 gene presenting with an hypopigmented spotted retina.

引言：
施蒂克勒综合征（Stickler syndrome）是一种罕见的胶原病，由编码原纤维型胶原蛋白Ⅱ、Ⅸ和Ⅺ的多种基因突变引发。根据受累基因及患者临床特征，该疾病可分为不同亚型。多数施蒂克勒综合征患者会出现眼部症状，如高度近视、视网膜脱离或玻璃体异常。本病例报告中，我们报道1例存在非典型视网膜表型的患者。

病例介绍：
本病例报告的研究对象为一名33岁女性，就诊于格拉茨医科大学眼科系。研究团队对其开展了全面的眼科检查，详细采集了病史与家族史，并完成了基因检测。双眼最佳矫正视力均为20/20，但检查发现其存在双眼视觉受损，伴间歇性外斜视。此外，散瞳眼底检查可见非典型的色素减退斑点状视网膜表型。眼底自发荧光检查可见多发高荧光斑点，与视网膜斑点样外观相符。基因检测结果显示COL11A1基因存在1种新发变异，未发现与COL11A1相关的其他眼部异常。

结论：
医学文献中已报道多种施蒂克勒综合征亚型，其临床表现差异显著。目前已发现COL11A1基因的多种不同突变，此类突变通常与2型施蒂克勒综合征相关。据我们所知，本研究为首例报道COL11A1基因突变患者伴色素减退斑点状视网膜表型的病例。