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Amaurosis congénita de Leber RPE-65, seguimiento a 7 años
Jorge Arturo Sánchez-Ramos1, Ángeles Yahel Hernández-Vázquez1, Juan Abel Ramírez-Estudillo1
1Departamento de Retina y Vítreo, Fundación Hospital Nuestra Señora de la Luz, Ciudad de México, México.
Abstract:
Leber congenital amaurosis is a retinal dystrophy with several forms of presentation due to its genetic variability. Case of a female girl followed up from 4 to 11 years old is presented, with positive clinical data of nyctalopia, myopia and choroid ocular fundus. Electroretinogram was not measurable in all phases but diagnostic was confirmed by RPE65 mutation genetic study. RPE65 Leber congenital amaurosis is particularly important as it has been researched for a gene therapy treatment with good functional outcomes up to now, awaiting to offer hope and a better quality of life to people with this disease.
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