Retinitis Pigmentosa Genes Implicated in the Population
of America: A Systematic Review

 

Olivia Margarita Narváez¹, Hugo Mendieta Zerón², Orlando Torres³, Magally Escobar⁴, Martha Liliana Trujillo-Güiza⁴

¹Santo Tomás University, Faculty of Optometry, Bucaramanga, Colombia
²Autonomous University of the State of Mexico (UAEMex) and "Mónica Pretelini Sáenz" Maternal-Perinatal Hospital, Faculty of Medicine, Toluca, Mexico
³Antonio Nariño University, Faculty of Veterinary Medicine, Bogotá, Colombia
⁴Antonio Nariño University, Faculty of Medicine, Bogotá, Colombia

 

  SUMMARY

 

Introduction/Aim. Retinitis pigmentosa (RP) is a diverse group of inherited retinal diseases characterized by the gradual degeneration of rod and cone photoreceptors in the retina. RP is primarily inherited, with numerous genetic mutations implicated in its pathogenesis. The aim of this study was to summarize the findings of studies related to genes implicated in retinitis pigmentosa, in autosomal dominant (adRP), autosomal recessive (arRP), and X-linked RP (xlRP) patients in America.
Material and Methods. In this comprehensive search of literature via the Medline/PubMed database, SciELO, Redalyc, ScienceDirect, and Google Scholar (English/Spanish), 75 articles between 2010-2020 were reviewed; the final analysis was based on 21 articles.
Results. The main gene mutations found in America for adRP were RHO (rhodopsin) and PRPF31 (pre-MRNA processing factor 31); for arRP, USH2A (usherin 2A) and EYS (eyes shut homolog); and for xlRP, RPGR (retinitis pigmentosa GTPase regulator) and RP2 (retinitis pigmentosa 2).
Conclusion. Most of the genes currently found worldwide to cause RP were present in America, with similarities and differences with other populations in Asia and Europe.

 Keywords: autosomal dominant, autosomal recessive, inheritance pattern, retinitis pigmentosa, X-linked

 

Corresponding author:

Hugo Mendieta Zerón

e-mail: mezh_74@yahoo.com