Genetic profile of syndromic retinitis pigmentosa in Portugal.

ABSTRACT:

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

Multicenter, retrospective cohort study. Six Portuguese healthcare providers identified patients with a clinical diagnosis of syndromic RP and available genetic testing results. All patients had been previously subjected to a detailed ophthalmologic examination and clinically oriented genetic testing. Genetic variants were classified according to the American College of Med

SUBMITTER: Cortinhal T 

PROVIDER: S-EPMC11106148 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature