Fleck-like lesions in CEP290-associated leber congenital amaurosis: a case series.

Tomas S AlemanErin C O'NeilKatherine E UyhaziKelsey M ParchinskiArlene J SantosMariejel L WeberSherice P ColcloughAndrew S BillekXiaosong ZhuBart Peter LeroyEmma C Bedoukian

Published in: Ophthalmic genetics (2022)

correspond to malformed, rudimentary or degenerated, including shed, photoreceptor outer segments. The topography and possible origin of the abnormalities may inform the planning of evolving genetic therapies for this disease.

Keyphrases

genome wide
copy number
gene expression