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Article

Genetic profile of syndromic retinitis pigmentosa in Portugal.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Jun 2024

Cortinhal Telmo, Santos Cristina, Vaz-Pereira Sara, Marta Ana, Duarte Lilianne, Miranda Vitor, Costa José, Sousa Ana Berta, Peter Virginie G, Kaminska Karolina, Rivolta Carlo, Carvalho Ana Luísa, Saraiva Jorge, Soares Célia Azevedo, Silva Rufino, Murta Joaquim, Santos Luísa Coutinho, Marques João Pedro

Abstract excerpt

PURPOSE: Retinitis pigmentosa (RP) comprises a genetically and clinically heterogeneous group of inherited retinal degenerations, where 20-30% of patients exhibit extra-ocular manifestations (syndromic RP). Understanding the genetic profile of RP has important implications for disease prognosis and genetic counseling. This study aimed to characterize the genetic profile of syndromic RP in Portugal. METHODS:...

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Source

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Identifiers

PMID: 38189974
DOI: 10.1007/s00417-023-06360-2
PMCID: PMC11106148

Genes

BBS1
MYO7A
USH2A

Provenance

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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