PURPOSE PRPH2-associated retinal diseases (PARD) result from pathogenic PRPH2 variants, primarily affecting photoreceptor outer segments and retinal pigment epithelium. The focus of this article is to review and discuss the phenotyping of PARD subtypes. DESIGN A systematic review METHODS: The review followed PRISMA 2020 guidelines with searches on PubMed, Medline, Web of Science, Google Scholar, and Cochrane Library. Eligible studies were those which discussed molecularly confirmed PARD or described associated diseases such as butterfly pattern dystrophy. INCLUSION cross-sectional, cohort, case-control studies, book chapters. EXCLUSION non-English, conference papers, non-peer-reviewed, or non-full text articles. RESULTS PARD is responsible for 25% of pattern dystrophy and up to 5% of inherited retinal dystrophies. There is clear evidence of phenotypic variability between individuals carrying the same pathogenic variant. Fundus autofluorescence, fluorescein angiography, optical coherence tomography, while in research adaptive optics reveal detailed phenotypic characteristics, notably in retinal pigment epithelium changes and photoreceptor disruption. The phenotypic of PARD variability presents diagnostic challenges, with phenotypic features often overlapping with other retinal diseases including age-related macular degeneration, Stargardt disease and retinitis pigmentosa. CONCLUSION This review emphasizes revising diagnostic criteria by incorporating more recent imaging techniques and confirming diagnosis with the use of genetic testing. Understanding phenotypic diversity and intrafamilial variability in PARD is crucial for developing new treatments and for patient prognosis and future research should focus on larger cohorts studying genotype-phenotype correlations.

中文翻译：

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PRPH2 相关视网膜疾病：表型发现的系统评价。


目的 PRPH2 相关视网膜疾病 （PARD） 由致病性 PRPH2 变体引起，主要影响感光器外段和视网膜色素上皮。本文的重点是回顾和讨论 PARD 亚型的表型。设计 系统评价方法 ： 本综述遵循 PRISMA 2020 指南，在 PubMed、Medline、Web of Science、Google Scholar 和 Cochrane 图书馆上进行检索。符合条件的研究是那些讨论分子证实的 PARD 或描述相关疾病（如蝴蝶型营养不良）的研究。纳入横断面、队列、病例对照研究、书籍章节。排除 非英语、会议论文、非同行评审或非全文文章。结果 PARD 导致 25% 的模式营养不良和高达 5% 的遗传性视网膜营养不良。有明确的证据表明携带相同致病性变异的个体之间存在表型变异。眼底自发荧光、荧光素血管造影、光学相干断层扫描，同时在研究中自适应光学揭示了详细的表型特征，特别是在视网膜色素上皮变化和光感受器破坏中。PARD 变异性的表型带来了诊断挑战，表型特征通常与其他视网膜疾病重叠，包括年龄相关性黄斑变性、Stargardt 病和色素性视网膜炎。结论 本综述强调通过结合最新的影像学技术和使用基因检测来确认诊断标准。了解 PARD 的表型多样性和家族内变异性对于开发新疗法和患者预后至关重要，未来的研究应侧重于研究基因型-表型相关性的更大队列。