Treatment Potential for LCA5-Associated Leber Congenital Amaurosis.

ABSTRACT:

Purpose

To determine the therapeutic window for gene augmentation for Leber congenital amaurosis (LCA) associated with mutations in LCA5.

Methods

Five patients (ages 6-31) with LCA and biallelic LCA5 mutations underwent an ophthalmic examination including optical coherence tomography (SD-OCT), full-field stimulus testing (FST), and pupillometry. The time course of photoreceptor degeneration in the Lca5gt/gt mouse model and the efficacy of subretinal gene augmentation therapy with AAV8-hLCA5 delivered at postnatal day 5 (P5) (early, n = 11 eyes), P15 (mid, n = 14), and P30 (late, n = 13) were assessed using SD-OCT, histologic study, electroretinography (ERG), and pupillometry. Comparisons were made with the human disease.

Results

Patients with LCA5-LCA showed a maculop

SUBMITTER: Uyhazi KE 

PROVIDER: S-EPMC7405811 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature