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

ABSTRACT:

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 the largest Portuguese GED referral center (Hospitais da Universidade de Coimbra) were included. All had a clinical diagnosis based on clinical findings and deep phenotyping and underwent genetic testing. Targeted re-evaluation included updated Next Generation Sequencing (NGS) panels, Exome Sequencing (ES) reanalysis, and assays for intronic variants, copy number variant

SUBMITTER: Martins PM 

PROVIDER: S-EPMC12859735 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature