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Leber’s Congenital Amaurosis and Gene Therapy
The Indian Journal of Pediatrics, 2017Retinal blindness is an important cause of pediatric visual loss. Leber's congenital amaurosis (LCA) is one of these causes, often wrongly included in the spectrum of retinitis pigmentosa. The disease has become the center of research after initial reports of success in management with gene therapy.
Brijesh, Takkar +2 more
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High Hyperopia in Leber's Congenital Amaurosis
Archives of Ophthalmology, 1985Few studies comment on the type of refractive errors found in patients with Leber's congenital amaurosis. The association of an uncomplicated infantile form of this condition with high hyperopia but without systemic complications has been suggested. In a retrospective study, we identified 11 patients who satisfied the criteria for the diagnosis of this
R S, Wagner +3 more
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Macular Colobomas in Leber's Congenital Amaurosis
American Journal of Ophthalmology, 1977Two siblings with Leber's congenital amaurosis had the unusual association of bilateral macular colobomas. In addition to the colobomas, the patients also had deafmutism, severe myopia, large corneas, and an unusual discrete area of peripapillary tapetoretinal sheen.
S, Margolis, B M, Scher, R E, Carr
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Leber’s Congenital Amaurosis as Conceived by Leber
Ophthalmologica, 1979Not being satisfied with the present-day diagnosis of Leber's congenital amaurosis, the original papers written by Leber were studied. It gradually became clear that what Leber had in mind with congenital amaurosis is roughly the same as what we know as neuronal ceroid lipofuscinosis.
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Leber's Congenital Amaurosis with Associated Nephronophthisis
Journal of Pediatric Ophthalmology & Strabismus, 1980The authors present a case of a 15-year-old girl with Leber's congenital amaurosis with associated nephronophthisis. The main findings in this case are: congenital blindness; enophthalmos; photophobia; nystagmus; keratoconus; cataracts; pigmentary degeneration in the fundus of both eyes; progressive uremia with absence of hematuria, proteinuria, pyuria,
J, Roizenblatt, L A, Peduti Cunha
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2007
Leber congenital amaurosis ([LCA], MIM 204000) is an important, currently untreatable congenital retinal dystrophy that inexorably leads to blindness. Its importance is twofold and lies in the fact that it creates a tremendous burden on the affected child, the family, and society, as the blindness is life long and commences at birth.
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Leber congenital amaurosis ([LCA], MIM 204000) is an important, currently untreatable congenital retinal dystrophy that inexorably leads to blindness. Its importance is twofold and lies in the fact that it creates a tremendous burden on the affected child, the family, and society, as the blindness is life long and commences at birth.
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Gene Therapy for Leber Congenital Amaurosis
2003Leber congenital amaurosis (LCA) accounts for 5% of all inherited retinal dystrophies (Foxman et al., 1985; Kaplan et al., 1990), causing blindness in infants (Leber, 1869). Children are diagnosed before one year of age and present with impaired vision or total blindness, a normal fundus exam and a severely depressed or absent electroretinogram (ERG ...
Dejneka NS +2 more
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2016
Leber congenital amaurosis is a group of early-onset retinal dystrophies characterized by severe vision loss, nystagmus, and retinal dysfunction demonstrated with severely abnormal ERG.
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Leber congenital amaurosis is a group of early-onset retinal dystrophies characterized by severe vision loss, nystagmus, and retinal dysfunction demonstrated with severely abnormal ERG.
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Diagnostic Criteria for Leber's Congenital Amaurosis
Archives of Ophthalmology, 1987To the Editor. —I am concerned by the lack of specific diagnostic criteria in a recent article by Schroeder et al, 1 which retrospectively reveiwed the cases of 43 patients with Leber's congenital amaurosis. For example, the authors stated that all patients "presented with poor vision since birth or before 6 months of age" but did not specify what ...
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Leber congenital amaurosis: a genetic paradigm
Ophthalmic Genetics, 2004Leber congenital amaurosis (LCA; estimated prevalence 1 : 50,000-100,000) is an early-onset inherited cause of childhood blindness characterized by a severe retinal dystrophy immediately after birth. Variants in at least six genes, AIPL1, CRB1, CRX, GUCY2D, RPE65, and RPGRIP1, have been associated with a diagnosis consistent with LCA or early-onset ...
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