双隐性黄斑营养不良症。

IF 1.2 4区 医学 Q4 GENETICS & HEREDITY
Ophthalmic Genetics Pub Date : 2024-08-01 Epub Date: 2024-06-04 DOI:10.1080/13816810.2024.2352376
Noor Ghali, Arif O Khan
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引用次数: 0

摘要

目的:隐性黄斑营养不良症(OMD)是导致眼底外观正常的年轻人视力下降的原因之一。它被认为是一种常染色体显性遗传疾病,与 RP1L1 基因中的杂合致病变体有关。本研究的目的是报告该病的双倍拷贝形式:一名 29 岁的女性在过去两年中因左眼一过性视力下降而接受了神经系统检查和眼科检查,但没有得到明确诊断。最佳矫正视力为 20/30、20/20。使用 78D 镜片进行间接眼科检查时,发现视网膜中央色素上皮有细微的斑驳,光学相干断层扫描证实椭圆体区中央有细微的增厚。全场视网膜电图正常,但模式视网膜电图显示 p50 反应减弱。怀疑是 OMD。视网膜基因面板检测结果显示,只有 RP1L1(NM_178857.6:c.3571 G>T;p.Glu1191*)存在同源变异。父母和哥哥无法进行分离分析。根据病史,他们除了需要佩戴眼镜外,没有其他视力问题:本报告介绍了一种与 RP1L1 中的新型致病变异相关的双倍拷贝型 OMD 的临床和遗传学发现。仔细评估具有该变异体的杂合子的黄斑功能将很有意义。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Biallelic occult macular dystrophy.

Purpose: Occult macular dystrophy (OMD) is a cause of visual loss in young adults with a grossly normal fundus appearance. It is considered an autosomal dominant disorder, related to heterozygous pathogenic variants in the gene RP1L1. The purpose of this study is to report a biallelic form of the disease.

Results: A 29-year-old female had undergone neurological workup and ophthalmic examinations for transient visual loss in her left eye over the past two years but there was no definitive diagnosis. The best-corrected visual acuity was 20/30, 20/20. Indirect ophthalmoscopy with a 78D lens revealed subtle central retinal pigment epithelium mottling and optical coherence tomography confirmed subtle central thickening of the ellipsoid zone. Full-field electroretinography was normal, but pattern electroretinography showed decreased p50 responses. OMD was suspected. Retinal gene panel testing was significant only for a homozygous variant in RP1L1 (NM_178857.6: c.3571 G>T; p.Glu1191*). The parents and older brother were unavailable for segregation analysis. By history they did not have visual complaints other than a need for glasses.

Conclusions: This report presents the clinical and genetic findings of a biallelic form of OMD associated with a novel pathogenic variant in RP1L1. It would be of interest to carefully assess macular function in heterozygotes with this variant.

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来源期刊
Ophthalmic Genetics
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.
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