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The following is a summary of “PRPH2-associated Retinal Diseases: A Systematic Review of Phenotypic Findings,” published in the November 2024 issue of Ophthalmology by AlAshwal et al.
Researchers conducted a retrospective study to review and discuss the phenotypic characteristics of PRPH2-associated retinal disease (PARD) subtypes.
They reviewed PRISMA 2020 guidelines, utilizing search engines including PubMed, Medline, Web of Science, Google Scholar, and Cochrane Library. Eligible studies included those detailing molecularly confirmed PARD or related conditions, such as butterfly pattern dystrophy, and included cross-sectional studies, cohort studies, case-control studies, and book chapters. Studies were excluded if they were non-English, conference papers, non-peer-reviewed, or lacked full text.
The results showed that PARD accounted for 25% of pattern dystrophy cases and up to 5% of inherited retinal dystrophies. Evidence indicated notable variability in phenotypic expression among individuals with the same pathogenic variant. Imaging techniques such as fundus autofluorescence, fluorescein angiography, and optical coherence tomography, and in research, adaptive optics, provided detailed insights into phenotypic characteristics, particularly revealing changes in the retinal pigment epithelium and disruptions in photoreceptors. The phenotypic variability of PARD posed diagnostic challenges, with features often overlapping with other retinal diseases, including age-related macular degeneration, Stargardt disease, and retinitis pigmentosa.
Investigators concluded that revising diagnostic criteria, understanding phenotypic diversity, and focusing on genotype-phenotype correlations in PARD are essential for future research and clinical management.
Source: ajo.com/article/S0002-9394(24)00510-5/abstract
