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Retinal Pigment Epithelium Transplantation in a Non-human Primate Model for Degenerative Retinal Diseases

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Long-Term Follow-Up of a Family with Retinal Dystrophy Caused by RPE65 Mutation.

Ágnes Jánossy¹, Eszter Vizvári¹, Máté Lőrincz¹

¹Department of Ophthalmology, Faculty of Medicine/University of Szeged, Szeged, Hungary.

Case Reports in Ophthalmology

|October 30, 2023

Summary

Leber's congenital amaurosis (LCA) patients with RPE65 mutations showed functional improvement after gene therapy, even at advanced disease stages. Electrophysiological tests are vital for monitoring photoreceptor loss in LCA.

Area of Science:

Ophthalmology
Genetics
Retinal Diseases

Background:

Leber's congenital amaurosis (LCA) is a severe inherited retinal dystrophy.

Keywords:

Electrophysiology Genetic treatment Hereditary retinal dystrophy Leber’s congenital amaurosis Optical coherence tomography

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RPE65 gene mutations are a common cause of LCA, leading to progressive vision loss.

Early diagnosis and monitoring are crucial for managing LCA.