Ocular and neurological manifestations of the FDXR-related disorder.

IF 1.2 4区医学 Q3 OPHTHALMOLOGY

Journal of Aapos Pub Date : 2024-12-31 DOI:10.1016/j.jaapos.2024.104102

Andrew Kaler, Natario Couser

引用次数: 0

Abstract

The FDXR-related disorder is caused by pathogenic variants in the FDXR gene. Including our case, a total of 47 patients have been reported. The most common genotypes are the homozygous c.1174C>T (p.R392W) variant and homozygous c.916C>T (p.R306C) variant. Optic atrophy is the most common feature (89%), but many other ocular manifestations have not previously been characterized. Our review of the existing literature reveals other common ocular findings of myopia, nystagmus, strabismus, retinal dystrophy, attenuation of retinal vessels, and cataracts. Common neurological symptoms include movement disorder, sensorineural hearing loss, developmental delay/regression, and hypotonia.

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fdxr相关疾病的眼部和神经系统表现。

FDXR相关疾病是由FDXR基因的致病性变异引起的。包括我们的病例在内，总共报告了47例患者。最常见的基因型是纯合子c.1174C . >T （p.R392W）变异和纯合子c.916C . >T （p.R306C）变异。视萎缩是最常见的特征（89%），但许多其他眼部表现以前没有被描述过。我们对现有文献的回顾揭示了其他常见的眼部表现，如近视、眼球震颤、斜视、视网膜营养不良、视网膜血管衰减和白内障。常见的神经系统症状包括运动障碍、感音神经性听力丧失、发育迟缓/退化和张力减退。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Aapos 医学-小儿科

CiteScore

2.40

自引率

12.50%

发文量

159

审稿时长

55 days

期刊介绍： Journal of AAPOS presents expert information on children''s eye diseases and on strabismus as it affects all age groups. Major articles by leading experts in the field cover clinical and investigative studies, treatments, case reports, surgical techniques, descriptions of instrumentation, current concept reviews, and new diagnostic techniques. The Journal is the official publication of the American Association for Pediatric Ophthalmology and Strabismus.