ArticleBMC ophthalmology2026
Investigating PRPH2-associated retinal degeneration patient-reported outcomes in vision-related quality of life.
Article in BMC ophthalmology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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4 authors.
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Abstract
backgroundPRPH2-associated retinal degeneration (PARD) is one of the most common causes of inherited retinal disease and can impair visual function and quality of life. While genetic and clinical features of PARD have been described, patient-reported experiences of visual symptoms remain less well characterized. This study aims to evaluate self-reported visual function and quality of life among individuals with genetically confirmed PARD.
methodsThis cross-sectional study surveyed patients with confirmed PARD at a single academic center using the National Eye Institute Visual Function Questionnaire-25 (VFQ-25). The questionnaire was administered digitally and assessed 11 vision-related domains, including general vision, near and distance activities, and vision-related mental health. A composite score was calculated as the mean of all subscale scores excluding the general health item. Descriptive statistics were used to summarize responses, with higher scores indicating better perceived visual function.
resultsTwenty-two participants completed the VFQ-25. The median (IQR) composite score was 76.9 (16.4), reflecting moderate perceived visual dysfunction. The highest-rated domains were ocular pain (87.5 (37.5)) and color vision (100.0 (0.0)). Domains related to functional activities demonstrated greater impairment, including general vision (80.0 (20.0)), near activities (79.2 (39.6)), distance activities (75.0 (29.2)), and driving (75.0 (33.3)). The vision-specific mental health domain had the lowest score (59.4 (40.6)), underscoring the psychological impact of PARD.
conclusionsIndividuals with PARD report significant challenges in visual function and emotional well-being. These results highlight the importance of incorporating patient-reported outcome measures into the clinical characterization of PARD and the design of future therapeutic studies.
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