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RPGR-Related Retinal Dystrophy in Latin America-A Collaborative Study
Malena Daich Varela1, Rene Moya2, José D Luna3
1From the Moorfields Eye Hospital, London, United Kingdom (M.D.V.); UCL Institute of Ophthalmology, University College London, London, United Kingdom (M.D.V.).
American Journal of Ophthalmology
|May 29, 2025
Summary
This study characterizes RPGR-associated inherited retinal diseases (IRDs) in Latin America, revealing novel variants and disease progression. Findings highlight significant socioeconomic impacts, informing future therapy access for RPGR-IRDs.
Area of Science:
- Ophthalmology
- Genetics
- Rare Diseases
Background:
- RPGR-associated inherited retinal diseases (IRDs) represent a significant cause of vision loss.
- Genetic and clinical data for RPGR-IRDs in Latin America remain largely uncharacterized.
Purpose of the Study:
- To provide the first comprehensive genetic and clinical characterization of RPGR-IRDs in the Latin American population.
- To assess the genetic, clinical, and socioeconomic landscape of RPGR-associated IRDs in this region.
Main Methods:
- A multicenter, international, retrospective, observational cohort study.
- Inclusion of patients with genetically confirmed RPGR-IRDs from six Latin American countries.
- Collection and analysis of demographic, clinical, genetic, and socioeconomic data.
Main Results:
- The study presents the largest cohort of RPGR-associated IRD patients to date (314 individuals, 205 families).
- Retinitis pigmentosa was present in 88% of individuals, with a mean onset age of 10.9 years.
- Significant associations were found between age and visual acuity, with 50% losing discernible subfoveal ellipsoid zone by age 58.
- Fourteen novel RPGR variants were identified.
- Forty-three percent of patients reported unemployment or underemployment, and 45% reported depression or anxiety due to visual impairment.
Conclusions:
- This study offers the first genetic and clinical profile of RPGR-IRDs in Latin America, including new variants and natural history data.
- Genotype-phenotype correlations and regional prevalence estimates were established.
- The findings provide crucial data on patient populations and the socioeconomic burden, paving the way for future RPGR-targeted therapies in Latin America.
