疑为Lamb-Shaffer综合征的儿童双侧虹膜和视网膜结肠瘤1例。

IF 0.9 4区 医学 Q4 OPHTHALMOLOGY
Lauren N Hucko, Natasha F S da Cruz, Pavlina S Kemp, Carlos E Mendoza-Santiesteban, Audina M Berrocal
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引用次数: 0

摘要

Lamb-Shaffer综合征(LSS)是一种罕见的神经发育障碍,由sry相关的HMB盒(SOX5)基因单倍体充足引起。大多数病例是由从头变异体引起的;然而,有些病例遵循常染色体显性遗传模式。LSS的典型特征包括整体发育迟缓、面部畸形、肌肉骨骼异常、心脏和泌尿生殖系统缺陷。大约55%的LSS患者有斜视和视神经异常等眼部表现。我们报告一个22个月大的男孩,有双侧虹膜和视网膜结肠瘤、双侧晶状体半脱位和斜视的病史,并有发育迟缓、并指畸形和听力损失的病史。基因检测在SOX5基因的外显子14上发现了一个不确定意义的错义变体,这与LSS有关。遗传性视网膜疾病小组显示,患者是PHYH基因致病性变异和COL9A2基因不确定意义变异的携带者。遗传性视网膜疾病小组的结果没有发现与虹膜和绒毛膜视网膜结肠瘤有关的变异;因此,我们假设结肠瘤是LSS的另一种眼部表现。该病例拓宽了LSS表型的特征,同时提出了与LSS可能相关的额外变体。目前没有治疗LSS的方法;然而,对LSS的异质性表型和遗传谱的深入了解将有助于提高对该综合征的认识和诊断能力。[眼科外科激光成像视网膜2025;56:XX-XX]。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Bilateral Iris and Chorioretinal Colobomas in a Child With Suspected Lamb-Shaffer Syndrome.

Lamb-Shaffer syndrome (LSS) is a rare neurodevelopmental disorder caused by haploin-sufficiency of the SRY-related HMB box (SOX5) gene. Most cases result from de novo variants; however, some cases follow autosomal dominant inheritance patterns. Classic features of LSS include global developmental delay, dysmorphic facial features, musculoskeletal abnormalities, and cardiac and genitourinary defects. Ophthalmic manifestations of LSS such as strabismus and optic nerve abnormalities have been described in approximately 55% of patients with LSS. We report a case of a 22-month-old boy with a history of bilateral iris and chorioretinal colobomas, bilateral lens subluxation, and strabismus and a past medical history of developmental delay, syndactyly, and hearing loss. Genetic testing identified a missense variant of uncertain significance in exon 14 of the SOX5 gene, which is linked to LSS. An inherited retinal disorders panel revealed the patient was a carrier of a pathogenic variant of the PHYH gene and a variant of uncertain significance of the COL9A2 gene. Results of the inherited retinal disorders panel did not identify variants implicated with iris and chorioretinal colobomas; therefore, we postulate colobomas as an additional ophthalmic manifestation of LSS. This case serves to broaden characterization of the LSS phenotype, while presenting an additional variant potentially associated with LSS. There is currently no treatment for LSS; however, robust understanding of LSS's heterogenous phenotypic and genetic profile will lead to improved knowledge of the syndrome and diagnostic aptitude. [Ophthalmic Surg Lasers Imaging Retina 2025;56:XX-XX.].

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来源期刊
CiteScore
1.80
自引率
0.00%
发文量
89
期刊介绍: OSLI Retina focuses exclusively on retinal diseases, surgery and pharmacotherapy. OSLI Retina will offer an expedited submission to publication effort of peer-reviewed clinical science and case report articles. The front of the journal offers practical clinical and practice management features and columns specific to retina specialists. In sum, readers will find important peer-reviewed retina articles and the latest findings in techniques and science, as well as informative business and practice management features in one journal.
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