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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 summary is machine-generated.

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.

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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.