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Article

Treatment Potential for LCA5-Associated Leber Congenital Amaurosis.

Investigative ophthalmology & visual science - 11 May 2020

Uyhazi Katherine E, Aravand Puya, Bell Brent A, Wei Zhangyong, Leo Lanfranco, Serrano Leona W, Pearson Denise J, Shpylchak Ivan, Pham Jennifer, Vasireddy Vidyullatha, Bennett Jean, Aleman Tomas S

Abstract excerpt

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...

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Identifiers

PMID: 32428231
DOI: 10.1167/iovs.61.5.30
PMCID: PMC7405811

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