CERKL-associated retinal degeneration in Portugal: Mutational spectrum and retinal phenotypes

CERKL-associated retinal degeneration in Portugal: Mutational spectrum and retinal phenotypes

Purpose: Ceramide kinase-like (CERKL) is a rarely reported gene in association with inherited retinal disease. This study aims to describe the genetic profile and phenotypic spectrum of CERKL-associated Retinal Degeneration (CERKL-RD) in Portugal. Design: Cross-sectional, multicenter cohort study Me...

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Main Authors: Catarina Pestana Aguiar, Lilianne Duarte, Célia Azevedo Soares, Pedro Marques-Couto, Sérgio Estrela-Silva, Ana Luísa Carvalho, João Pedro Marques
Format: Article
Language:English
Published: Elsevier 2025-07-01
Series:AJO International
Subjects:
Retinitis pigmentosa
Inherited retinal disease
CERKL
Nonsense variant
Ophthalmic genetics
Online Access:http://www.sciencedirect.com/science/article/pii/S2950253525000152
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http://www.sciencedirect.com/science/article/pii/S2950253525000152

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