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Portuguese Society of Ophthalmology and Portuguese Society of Human Genetics Joint Clinical Practice Guidelines for Genetic Testing in Inherited Retinal Dystrophies.

Clinical genetics - 1 Jun 2025

Marques João Pedro, Soares Célia Azevedo, Carvalho Ana Luísa, Estrela-Silva Sérgio, Santos Luísa Coutinho, Ramos Lina, Silva Eduardo

Abstract excerpt

The Portuguese Society of Ophthalmology and the Portuguese Society of Human Genetics developed clinical practice guidelines to streamline genetic testing for inherited retinal dystrophies (IRDs), underlining the critical role of molecular diagnosis in enhancing patient care. Genetic testing is pivotal in diagnosis, genetic counselling, prognosis and access to clinical trials, and new gene-specific therapies....

Topics

Humans
Genetic Testing
Retinal Dystrophies
Portugal
Genetic Counseling
Ophthalmology
Societies, Medical
Genetic Predisposition to Disease

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39745089
DOI: 10.1111/cge.14691
PMCID: PMC12050251

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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