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Article

Deep Learning-Based SD-OCT Layer Segmentation Quantifies Outer Retina Changes in Patients With Biallelic RPE65 Mutations Undergoing Gene Therapy.

Investigative ophthalmology & visual science - 2 Jan 2025

Pinedo-Diaz German, Lorenz Birgit, Künzel Sandrine H, Thiele Sarah, Ortega-Cisneros Susana, Corrochano Eduardo Bayro, Holz Frank G, Effland Alexander

Abstract excerpt

Purpose: To quantify outer retina structural changes and define novel biomarkers of inherited retinal degeneration associated with biallelic mutations in RPE65 (RPE65-IRD) in patients before and after subretinal gene augmentation therapy with voretigene neparvovec (Luxturna). Methods: Application of advanced deep learning for automated retinal layer segmentation, specifically tailored for RPE65-IRD....

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Identifiers

PMID: 39745677
DOI: 10.1167/iovs.66.1.5
PMCID: PMC11702825

Genes

RPE65

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