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Retinitis Pigmentosa GTPase regulator-Associated Retinal Degeneration: Integrating Patient-Reported Outcomes,
Nuno Gouveia1,2,3, Jessica Karuntu4, Hind Almushattat5
1Ophthalmology Department, Hospitais da Universidade de Coimbra (HUC), Unidade Local de Saúde de Coimbra (ULS-C), Coimbra, Portugal.
Ophthalmology Science
|October 6, 2025
Summary
This study shows that structural retinal changes in RPGR-associated retinal degeneration correlate with patient-reported visual function. Combining genetic, structural, and patient data improves understanding of this condition.
Area of Science:
- Ophthalmology
- Genetics
- Retinal Degeneration
Background:
- Retinitis pigmentosa GTPase regulator (RPGR)-associated retinal degeneration is a significant cause of vision loss.
- Understanding the interplay between genetic factors, structural retinal changes, and patient-reported visual function is crucial for effective management.
Purpose of the Study:
- To characterize genetic, structural, and patient-reported visual function in a multicenter cohort of patients with RPGR-associated retinal degeneration.
- To explore associations between genetic variants, retinal structure, and visual acuity.
- To correlate structural retinal measures with patient-reported visual function using the Michigan Retinal Degeneration Questionnaire (MRDQ).
Main Methods:
- A cross-sectional, international, multicenter study involving 51 patients with genetically confirmed RPGR-associated retinal degeneration.
- Genetic variants were identified, and visual acuity (VA) was recorded.
- Retinal structure was assessed using spectral-domain OCT, and patient-reported visual function was measured using the MRDQ.
Main Results:
- Structural endpoints (EZ area, CPT, PROS, FOSPET) significantly correlated with all MRDQ domains, indicating that more advanced degeneration is linked to higher disability scores.
- No significant differences in VA or structure were found between RPGR variants in different regions (ORF15 vs. exons 1-13).
- Male patients and female patients with RP phenotype had decreased VA and structural features compared to female carriers.
Conclusions:
- Combining genetic, structural, and patient-reported outcome measures is valuable for understanding RPGR-associated retinal degeneration.
- Structural biomarkers correlate with disease severity and visual impairment, aligning with patient-reported visual function.
- This integrated approach supports the development of patient-centered outcome measures for clinical trials and therapeutic interventions.
