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Article

Optical coherence tomography biomarkers in MYO7A-inherited retinal dystrophy: longitudinal study in pediatric patients.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Oct 2024

Subirà Olaia, Català-Mora Jaume, Del Prado Cristina, Díaz-Cascajosa Jesús, Barraso Rodrigo Marina, Cobos Estefanía, Aguilera Cinthia, Esteve-Garcia Anna, García-Arumí José, Caminal Josep M

Abstract excerpt

PURPOSE: This study aims to answer a key question: is MYO7A-inherited retinal dystrophy (MYO7A-IRD) a photoreceptor-first or retinal pigment epithelium-first disease? A second aim was to determine the most useful biomarkers to monitor disease progression in pediatric patients with Usher syndrome type 1B (USH1) secondary to MYO7A mutation. METHODS: Fifty-two eyes from 26 patients with genetically-confirmed...

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PMID: 38871877
DOI: 10.1007/s00417-024-06545-3

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