患有RPGR相关视网膜疾病的女性携带者罕见地同时出现视觉雪症状。

Rare Co-Occurrence of Visual Snow in a Female Carrier With RPGR-Associated Retinal Disorder.

作者信息

Tuekprakhon Aekkachai, Pawestri Aulia Rahmi, Suvannaboon Ragkit, Thongyou Ketwarin, Trinavarat Adisak, Atchaneeyasakul La-Ongsri

机构信息

Department of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.

Nuffield Department of Medicine, Wellcome Centre for Human Genetics, University of Oxford, Oxford, United Kingdom.

出版信息

Front Genet. 2021 Oct 1;12:728085. doi: 10.3389/fgene.2021.728085. eCollection 2021.

Abstract

X-linked retinitis pigmentosa (XLRP), a rare form of retinitis pigmentosa (RP), is predominantly caused by mutations in the retinitis pigmentosa GTPase regulator () gene. Affected males often present with severe phenotypes and early disease onset. In contrast, female carriers are usually asymptomatic or show stationary phenotypes. Herein, we reported an 8-year-old female carrier, a daughter of a confirmed RP father with mutation, with an early onset of progressive cone-rod pattern retinal dystrophy. Additionally, the carrier experienced visual snow-like symptom as long as she recalled. Ophthalmological examination showed the reduction of visual acuity and attenuation of photoreceptor functions since the age of 5 years. Further analysis revealed a heterozygous pathogenic variant of the RPGR gene and a random X-inactivation pattern. Although she harboured an identical RPGR variant as the father, there were phenotypic intrafamilial variations. The information on the variety of genotypic and phenotypic presentations in XLRP carriers is essential for further diagnosis, management, and monitoring of these cases, including the design of future gene therapy trials.

摘要

X连锁视网膜色素变性(XLRP)是视网膜色素变性(RP)的一种罕见形式,主要由视网膜色素变性GTP酶调节蛋白()基因突变引起。受影响的男性通常表现出严重的表型和疾病早发。相比之下,女性携带者通常无症状或表现为静止性表型。在此,我们报告了一名8岁的女性携带者,她是一位确诊患有RP且携带突变的父亲的女儿,患有早发性进行性锥杆型视网膜营养不良。此外,这位携带者自记事起就经历了视雪样症状。眼科检查显示,自5岁起视力下降,光感受器功能减退。进一步分析发现了RPGR基因的一个杂合致病变异和随机X染色体失活模式。尽管她携带了与父亲相同的RPGR变异,但存在家族内表型差异。XLRP携带者的各种基因型和表型表现信息对于这些病例的进一步诊断、管理和监测至关重要,包括未来基因治疗试验的设计。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/442e/8517444/a40fc27cf7ab/fgene-12-728085-g001.jpg

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