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Retinitis Pigmentosa in the Puerto Rican Population: A Geographic Distribution
David F Santos1, Leonardo J Molina Thurin2, José Gustavo Vargas3
1School of Medicine, Medical Sciences Campus, University of Puerto Rico, San Juan, PR, USA.
Clinical Ophthalmology (Auckland, N.Z.)
|October 5, 2022
Summary
Geographic clusters of retinitis pigmentosa (RP) mutations were identified in Puerto Rico. This finding may improve diagnosis and co-management of RP patients across the island.
Area of Science:
- Ophthalmology
- Genetics
- Public Health
Background:
- Retinitis pigmentosa (RP) is a group of inherited retinal diseases.
- Previous studies have documented RP in Puerto Rico.
- Understanding the geographic distribution of RP mutations can enhance diagnosis and co-management strategies.
Purpose of the Study:
- To investigate the geographic distribution of RP-associated gene mutations in Puerto Rico.
- To identify potential clusters of RP genetic mutations within specific townships on the island.
Main Methods:
- A non-concurrent prospective study was conducted.
- Genotyping was performed on 241 patients diagnosed with RP in Puerto Rico.
- Genetic analysis utilized the Invitae inherited retinal diseases panel, examining 330 genes.
Main Results:
- Analysis of 100 patients revealed distinct clusters of RP gene mutations in several townships.
- Specific mutation clusters included PDE6B in San Juan, BBS1 in San Juan and Bayamón, USH2A in Toa Baja, CRB1 in Ciales, and BBS7 in Aibonito.
- Other RP mutations were found to be geographically dispersed across the island.
Conclusions:
- Geographic clusters of RP mutations were identified in San Juan, Bayamón, Toa Baja, Ciales, and Aibonito.
- Some identified mutation clusters exhibit geographical isolation.
- Genetic testing is recommended for all patients diagnosed with RP in Puerto Rico to facilitate targeted management.
