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• W2593272634 abstract "Leber Congenital Amaurosis (LCA) is one of the most severe forms of hereditary retinal dystrophies described approximately 150 years ago and is a cause of vision loss early in childhood. Although LCA is characterized by wandering nystagmus, poor pupillary reflex (amaurotic pupils), and undetectable or severely abnormal ERG responses in infancy, there is a milder form called Severe Early Childhood Onset Retinal Dystrophy (SECORD) presenting after infancy usually before the age of five. LCA and SECORD describe a clinically and genetically diverse group of diseases. To date, there are 30 different genes determined to cause LCA/SECORD, and these genes are thought to account for approximately 70-80% of the disease spectrum. In recent years, with the initial successful results reported in treatment with gene therapy, LCA/SECORD has become the focus of new researches. This review summarizes the genetic and pathophysiological basis, different genetic types, and their clinical findings, diagnosis, differential diagnosis, and current developments in the treatment of LCA/SECORD." @default.
• W2593272634 created "2017-03-16" @default.
• W2593272634 date "2021-04-01" @default.
• W2593272634 modified "2023-09-26" @default.
• W2593272634 title "Leber Congenital Amaurosis" @default.
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• W2593272634 doi "https://doi.org/10.37783/crj-0257" @default.
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