RP2-Associated X-linked Retinopathy

Ophthalmology 2023;130:413-422 ª 2022 by the American Academy of Ophthalmology. This is an open access article under the CC BY license .

 

中文摘要

這篇文章介紹了RP2視網膜病變的臨床表現和分子遺傳學。這項研究收集了大型患者群體的數據，並發現了28個疾病引起的變異，其中有20個變異以前並未被臨床確定。在RP2病變中觀察到了一系列的自由基螢光（FAF）表現，從正常到進階萎縮都有。在此研究中，RP2視網膜病變是一種兒童期開始的、進展快速的視網膜退化症，通常早期涉及黃斑，大多數情況下在26歲以前已經完全失去橢圓區(ellipsoid zone )。本文介紹了這種罕見疾病的特徵和表現，對臨床診斷和治療有所啟示。

 

English Abstract

The study aimed to provide a clinical and genetic analysis of a large cohort of RP2-associated retinopathy patients to identify the phenotype-genotype correlation and prognosis. Molecular genetic testing and clinical findings including best-corrected visual acuity were examined, and twenty-eight disease-causing variants were identified, with 20 not previously clinically characterized. No patient with childhood-onset disease had an identifiable ellipsoid zone (EZ) after the age of 26 years. This study highlights that RP2 retinopathy is predominantly childhood-onset, rapidly progressive retinal degeneration, with macular involvement, and early complete loss of EZ in most cases. The study concludes that natural history data in genetically proven patients with RP2-associated retinopathy is limited, and future prospective natural history studies that monitor patients from a young age are vital to establish prognosis, phenotype-genotype correlations, and meaningful endpoints for trials.