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

Abstract

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.

Keywords

• Leber congenital amaurosis
• OCT
• LCA5
• Fundus autofluorescence
• Gene therapy
• Light-adapted FST