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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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Leber congenital amaurosis in a young female
JAAPA, 2019ABSTRACT Leber congenital amaurosis is a rare congenital disorder caused by a mutation in any of several different genes that causes rod-cone dystrophy and may eventually lead to blindness. Characteristic findings on fundoscopic examination include retinal pigment migration and macular atrophy.
Abigail M, Connelly, John M, Grosel
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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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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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Bulletin de la Societe belge d'ophtalmologie, 1992
Leber's congenital amaurosis is an autosomal recessive disorder, characterized by the onset of blindness before the age of 6 months, a variable fundus aspect and an absent or extremely pathological ERG. The disorder may be isolated or associated with systemic involvement, such as nephronophtisis (Senior-Loken syndrome), nephronophtisis, cone-shaped ...
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Leber's congenital amaurosis is an autosomal recessive disorder, characterized by the onset of blindness before the age of 6 months, a variable fundus aspect and an absent or extremely pathological ERG. The disorder may be isolated or associated with systemic involvement, such as nephronophtisis (Senior-Loken syndrome), nephronophtisis, cone-shaped ...
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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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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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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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Leber's Congenital Amaurosis and RPE65
International Ophthalmology Clinics, 2001openaire +2 more sources
An overview of leber congenital amaurosis: a model to understand human retinal development
Survey of Ophthalmology, 2004Robert Koenekoop
exaly