患有鲁宾斯坦-泰比综合征的新生儿青光眼的不寻常表现。

IF 1.2 4区医学 Q4 GENETICS & HEREDITY

Ophthalmic Genetics Pub Date : 2024-10-29 DOI:10.1080/13816810.2024.2422582

Brajesh Lahri, Renu Singh, Shikha Gupta, Arnav Panigrahi, Neerja Gupta, Shama Perveen, Arundhati Sharma, Viney Gupta

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引用次数: 0

摘要

目的：报告一名鲁宾斯坦-泰比综合征（Rubinstein-Taybi Syndrome，RTS）患儿发生的单侧新生儿先天性青光眼：一名 15 天大的男性患儿因左眼角膜直径增大、角膜混浊和角膜周边血管增生而被确诊为具有 RTS 特征的先天性青光眼。左眼超声生物显微镜检查发现虹膜萎缩、虹膜角膜粘连以及虹膜与部分吸收的白内障晶状体粘连。对患儿及其父母进行的遗传学评估发现，CREBBP 基因第 5 外显子（NM_004380.3:c.1390C>T）存在一个新发杂合致病变异。为控制左眼的眼压，患者接受了二极管激光环形光凝术：结论：虹膜角膜粘连导致的单侧新生儿先天性青光眼可能是鲁宾斯坦-泰比综合征的一种罕见表现。

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An unusual presentation of glaucoma in a neonate with Rubinstein-Taybi syndrome.

Purpose: To report the occurrence of unilateral, neonatal-onset congenital glaucoma in a child with Rubinstein-Taybi Syndrome (RTS).

Case report: A 15-day-old male with features of RTS was presented with an enlarged corneal diameter, corneal haze, and peripheral corneal vascularization of the left eye. Ultrasound biomicroscopy of his left eye revealed iris atrophy, iridocorneal adhesions, and iris adhesions to a partially absorbed cataractous lens. Genetic evaluation of the child and the parents revealed a novel de novo heterozygous pathogenic variant in exon 5 of the CREBBP gene (NM_004380.3:c.1390C>T). A diode laser cyclophotocoagulation was performed to control the IOP in the left eye.

Conclusion: Unilateral neonatal-onset congenital glaucoma due to iridocorneal adhesions can be a rare presentation of Rubinstein-Taybi Syndrome.

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来源期刊

Ophthalmic Genetics 医学-眼科学

CiteScore

2.40

自引率

8.30%

发文量

126

审稿时长

>12 weeks

期刊介绍： Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.