1. Exploring self-reported visual function and vision-related anxiety in patients with RPGR-associated retinal degeneration.
- Author
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Gouveia N, Chukwunalu O, Oliveira C, Alves CH, Silva R, Murta J, and Marques JP
- Subjects
- Humans, Male, Female, Adult, Middle Aged, Cross-Sectional Studies, Retinitis Pigmentosa physiopathology, Retinitis Pigmentosa psychology, Retinitis Pigmentosa genetics, Aged, Phenotype, Young Adult, Surveys and Questionnaires, Anxiety, Self Report, Retinal Degeneration physiopathology, Eye Proteins genetics
- Abstract
Variants in the retinitis pigmentosa GTPase regulator (RPGR) gene are responsible for the majority of X-linked retinitis pigmentosa cases, which not only affects male patients but also some heterozygous females. Vision-related disability and anxiety of patients with RPGR-associated retinal degeneration have never been explored before. This study aimed to evaluate self-reported visual function and vision-related anxiety in a Portuguese cohort of male and female patients with RPGR-associated retinal degeneration using two validated patient-reported outcome measures. Cross-sectional data of thirty-two genetically-tested patients was examined, including scores of the Michigan retinal degeneration questionnaire (MRDQ) and Michigan vision-related anxiety questionnaire. Patients were classified according to retinal phenotypes in males (M), females with male phenotype (FM), and females with radial or focal pattern. Both M and FM revealed higher rod-function and cone-function anxiety scores (p < 0.017). Most MRDQ disability scores were higher in M and FM (p < 0.004). Overall, positive correlations (p < 0.004) were found between every MRDQ domain and both anxiety scores. In RPGR-associated retinal degeneration, males and females with male phenotype show similar levels of increased vision-related anxiety and disability. Every MRDQ visual function domain showed a strong correlation with anxiety scores., (© 2024. The Author(s).)
- Published
- 2024
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