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Article

Genetic analysis of patients with nonsyndromic and syndromic retinitis pigmentosa in Puerto Rico: a genetic legacy.

Ophthalmic genetics - 1 Aug 2022

Vargas José Gustavo, Izquierdo Natalio J, Oliver Armando, Muns Sofia, Garcia-Rodriguez Omar, Villegas Víctor, Emanuelli Andrés

Abstract excerpt

BACKGROUND: Retinitis pigmentosa (RP) is a genetically heterogeneous group of diseases characterized by complete progressive vision loss; it has a prevalence of approximately one in 2500-7000. Patients with RP may have isolated findings, or the disorder can occur as part of a constellation of other abnormalities that, together, are known as syndromic RP. The aim of this study was to describe the results of a...

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Identifiers

PMID: 35318874
DOI: 10.1080/13816810.2022.2050764

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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