Relative preservation of the extramacular retina in LCA5-associated Leber congenital amaurosis.

Leber Congenital Amaurosis caused by mutations in LCA5 (LCA5-LCA) represents one of the most severe molecular forms of inherited retinal degenerations, even within the LCA disease spectrum. A retina-wide retinal degeneration with preservation of photoreceptors limited to central retina, near the foveal center, is the expected phenotype in various forms of LCA, including LCA5-LCA. In this report large areas of relatively preserved photoreceptors in the midperipheral and peripheral retina were documented with spectral domain optical coherence tomography and with fundus autofluorescence in a 13-year-old patient with LCA5-LCA.The findings raise the possibility of relative structural preservation in the peripheral retina in the setting of severe vision in LCA5-LCA and other molecular forms of LCA, regions that may become additional or alternative regional targets for gene therapies delivered by subretinal injections. © 2022 The Authors.

Citation

Keli O'Connor, Erin C O'Neil, Tomas S Aleman. Relative preservation of the extramacular retina in LCA5-associated Leber congenital amaurosis. American journal of ophthalmology case reports. 2022 Mar;25:101260

PMID: 35128149

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