关于一名女性患者出现视网膜营养不良、严重震颤和共济失调的 X 连锁 PRPS1 基因新变异的病例报告。

IF 1.2 4区医学 Q4 GENETICS & HEREDITY

Ophthalmic Genetics Pub Date : 2024-08-16 DOI:10.1080/13816810.2024.2388598

Richard N Sather, Caroline Brown, Sandra R Montezuma

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引用次数: 0

摘要

病例摘要：患者是一名 42 岁的女性，她的 PRPS1 基因中存在一个新发的错义变异。她的表型包括非对称性视网膜营养不良伴感觉性内斜视、先天性感音神经性听力损失、神经病变和严重震颤伴近期发作的共济失调。这为眼科和神经系统的研究结果提供了新的文献资料。

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Case report on a de novo variant in the X-linked PRPS1 gene presenting with retinal dystrophy, severe tremors, and ataxia in a female patient.

Case summary: The patient is a 42-year-old female who presented with a de novo missense variant in the PRPS1 gene. Her phenotype includes asymmetric retinal dystrophy with sensory esotropia, congenital sensorineural hearing loss, neuropathy, and severe tremors with recent-onset ataxia. This contributes a new presentation of ophthalmic and neurological findings to the literature.

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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.