Clinical characteristics of high myopia in female carriers of pathogenic RPGR mutations: a case series and review of the literature.
Clinical characteristics of high myopia in female carriers of pathogenic RPGR mutations: a case series and review of the literature.
复制标题
致病性RPGR突变女性携带者高度近视的临床特征：病例系列和文献综述。
DOI：
10.1080/13816810.2022.2113544
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发表时间：
2023
影响因子：
1.2
通讯作者：
Sun,Yang
中科院分区：
文献类型：
--
作者：
Tran,Matthew;Kolesnikova,Masha;Kim,AngelaH;Kowal,Tia;Ning,Ke;Mahajan,VinitB;Tsang,StephenH;Sun,Yang
背景RPGR突变是X连锁视网膜色素变性（XLRP）最常见的病因。高度近视被描述为受影响的女性XLRP携带者中非常常见的特征。然而，女性患者的临床表型与X连锁RPGR相关的高度近视还没有得到很好的描述。Materials and MethodsRetrospective病例系列的4名女性患者与RPGR突变和高度近视的诊断，谁提出了两个学术眼科中心。临床数据，包括年龄，家族史，视力，屈光不正，散瞳眼底检查，眼底照相，光学相干断层扫描，视网膜电图，和基因检测的结果，collected.ResultsThree RPGR的变种，在本研究中确定以前没有与近视的女性运营商。一种变体（c.2405_2406delAG，p.Glu802Glyfs *32）先前已与女性患者的近视表型相关。患者在生命的第一个和第六个十年之间出现症状。所有患者均存在与近视相关的视盘倾斜和后葡萄肿。2例患者视网膜色素上皮细胞的视网膜内迁移。结论RPGR相关的高度近视与杂合子女性的外显子1-14和ORF 15的突变有关。携带者的视觉功能范围很广。尽管RPGR相关高度近视的确切机制尚不清楚，但持续的分子诊断和表型描述仍然是了解RPGR突变对女性XLRP携带者视觉功能影响的关键步骤。
BackgroundRPGR mutations are the most common cause of X-linked retinitis pigmentosa (XLRP). High myopia has been described as a very frequent feature among affected female carriers of XLRP. However, the clinical phenotype of female patients presenting with X-linked RPGR-related high myopia has not been well described.Materials and MethodsRetrospective case series of four female patients with RPGR mutations and a diagnosis of high myopia, who presented to two academic eye centers. Clinical data, including age, family history, visual acuity, refractive error, dilated fundus exam, fundus photography, optical coherence tomography, electroretinography, and results of genetic testing, were collected.ResultsThree RPGR variants identified in the present study have not been previously associated with myopia in female carriers. One variant (c.2405_2406delAG, p.Glu802Glyfs *32) has been previously associated with a myopic phenotype in a female patient. Patients became symptomatic between the first and sixth decades of life. Myopia-associated tilted optic discs and posterior staphyloma were present in all patients. Two patients presented with intraretinal migration of the retinal pigment epithelium.ConclusionRPGR-related high myopia has been associated with mutations in exons 1–14 and ORF15 in heterozygous females. There is a wide range of visual function among carriers. Although the exact mechanism of RPGR-related high myopia is still unclear, continued molecular diagnosis and description of phenotypes remain a crucial step in understanding the impact of RPGR mutations on visual function in female XLRP carriers.