Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry

[Background]: The low prevalence of rare diseases poses a significant challenge in advancing their understanding. This study aims to delineate the clinical and genetic characteristics of patients with rare eye diseases (RED) enrolled in the Spanish Rare Diseases Patient Registry.

Bibliographic Details
Authors: López de la Rosa, Alberto, Tellería, Juan José, Paz, Manuel Posada de la, Hermosilla-Gimeno, Isabel M., Agurtzane Rivas, Miren, Gilabert, Raúl, Coco, Rosa M.
Format: article
Status:Published version
Publication Date:2024
Country:España
Institution:Consejo Superior de Investigaciones Científicas (CSIC)
Repository:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/380114
Online Access:http://hdl.handle.net/10261/380114
Access Level:Open access
Keyword:Clinical
Genetic
Rare diseases
Eye
Ocular
Registry
Spain
Description
Summary:[Background]: The low prevalence of rare diseases poses a significant challenge in advancing their understanding. This study aims to delineate the clinical and genetic characteristics of patients with rare eye diseases (RED) enrolled in the Spanish Rare Diseases Patient Registry.

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