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Leber's Congenital Amaurosis Associated with Hyperthreoninemia
American Journal of Ophthalmology, 1986Two siblings had Leber's congenital amaurosis. The girl (Patient 1) showed blindness shortly after birth, absent pupillary light reflex, and multiple round, white spots in both fundi. Her serum threonine level was increased (2.0 to 5.3 mg/dl; normal, 0.78 to 1.82 mg/dl). She died of massive pericardial effusion four months after birth.
S, Hayasaka +4 more
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Hyperopia in Complicated Leber's Congenital Amaurosis
Archives of Ophthalmology, 1990We studied the refractive status of 13 children with Leber's congenital amaurosis. Seven had the disease complicated by neurological or other systemic abnormalities, while the other 6 patients had only ophthalmic abnormalities. All 13 patients were hyperopic.
L R, Dagi +3 more
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A pedigree of Leber's congenital amaurosis
Ophthalmic Paediatrics and Genetics, 1988A pedigree of Leber's congenital amaurosis compatible with autosomal recessive trait is reported. Two male infants from consanguineous parents had remarkable visual loss within the first year of life, with sluggish pupillary responses, poor fixations, minimal eyeground changes and absent electroretinograms on presentations at the ages of four or 14 ...
S, Hirashima, N, Ohba
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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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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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