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Article

Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.

Investigative ophthalmology & visual science - 5 Jan 2026

Martins Pedro Moreira, Figueiredo Inês, Cruz Nuno, Gaspar Beatriz Rodrigues, Silva Rufino, Carvalho Ana Luísa, Marques João Pedro

Abstract excerpt

Purpose: Although genetic testing is crucial to provide prognostic information in genetic eye disorders (GEDs), up to 35% of cases remain unsolved after testing. We aim to describe how a tailored re-evaluation strategy, using up-to-date molecular testing, case-by-case review, and integration of in silico tools may increase the diagnostic yield. Methods: A total of 988 individuals from 800 families evaluated at...

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Identifiers

PMID: 41615371
DOI: 10.1167/iovs.67.1.62
PMCID: PMC12859735

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