The Optic Disk in Leber Congenital Amaurosis
, 1992 The typical fundus appearance in Leber congenital amaurosis (LCA) in infancy is normal. Later in childhood, clinical heterogeneity develops and a variety of fundal abnormalities may be seen.
Musarella, MA +3 more
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, 2020 Objetivo: Estudar o perfil genético de uma coorte brasileira com distrofia hereditária da retina com atenção especial aos casos de amaurose congênita de Leber.
Motta, Fabiana Louise Teixeira [UNIFESP]
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A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility. [PDF]
Doc Ophthalmol, 2023 Sylla MM +5 more
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Unlocking therapeutic potential: dual gene therapy for ameliorating the disease phenotypes in a mouse model of RPE65 Leber congenital amaurosis. [PDF]
Front Med (Lausanne), 2023 Liu Y +5 more
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State-of-the-art gene therapy for inherited retinal disorders
Клиническая офтальмологияO.I. Orenburkina1, A.E. Babushkin2 1Russian Center for Eye and Plastic Surgery of the Bashkir State Medical University, Ufa, Russian Federation 2Ufa Research Institute of Eye Diseases of the Bashkir State Medical University, Ufa, Russian ...
O.I. Orenburkina, A.E. Babushkin
doaj
Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis. [PDF]
Am J Med Genet A, 2023 Albakri A +9 more
europepmc +1 more source
Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS. [PDF]
J Appl Genet, 2023 Skorczyk-Werner A +4 more
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Bilateral exudative retinal detachments after subretinal gene therapy with voretigene neparvovec-rzyl for RPE65 Leber Congenital Amaurosis. [PDF]
Am J Ophthalmol Case Rep, 2023 Lidder AK +6 more
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Author Correction: Reduced ADP off-rate by the yeast CCT2 double mutation T394P/R510H which causes Leber congenital amaurosis in humans. [PDF]
Commun Biol, 2023 Roy M +3 more
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