结节性硬化症-2 型中的非典型眼部脑回样缺损：两例新病例报告。

Atypical Ocular Coloboma in Tuberous Sclerosis-2: Report of Two Novel Cases.

机构信息

Pediatric Ophthalmology Unit (GMB, SP, RC), Children's Hospital A. Meyer-University of Florence, Florence, Italy; and Pediatric Neurology (FM, VC, RG), Neurogenetics and Neurobiology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, 50139 Florence, Italy.

出版信息

J Neuroophthalmol. 2021 Sep 1;41(3):e363-e365. doi: 10.1097/WNO.0000000000001099.

DOI:10.1097/WNO.0000000000001099

PMID:33110010

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystemic disorder caused by mutations in either TSC1 or TSC2 genes and is characterized by hamartomas in multiple organs. The most frequent and best-known ocular manifestation in TSC is the retinal hamartoma. Less frequent ocular manifestations include punched out areas of retinal depigmentation, eyelid angiofibromas, uveal colobomas, papilledema, and sector iris depigmentation. In this article, we report 2 patients carrying known pathogenic variants in the TSC2 gene who exhibited an atypical, unilateral, iris coloboma associated with localized areas of retinal dysembryogenesis.

摘要

结节性硬化症复合征（TSC）是一种常染色体显性多系统疾病，由 TSC1 或 TSC2 基因突变引起，其特征是多个器官的错构瘤。在 TSC 中最常见和最著名的眼部表现是视网膜错构瘤。较少见的眼部表现包括视网膜色素脱失的打孔区域、眼睑血管纤维瘤、葡萄膜缺损、视盘水肿和扇形虹膜色素脱失。在本文中，我们报告了 2 名携带 TSC2 基因已知致病性变异的患者，他们表现出单侧、非典型的虹膜缺损，伴有局部视网膜发育不良。