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Leber's Congenital Amaurosis as Conceived by Leber
Ophthalmologica, 2010Not 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 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 ...
Rando Allikmets
exaly +3 more sources
1993
Leber’s congenital amaurosis has been described as an infantile form of retinitis pigmentosa (RP), although in toddlers and adults it is a separate entity. It is also called hereditary retinal blindness and Leber’s congenital tapetoretinal degeneration.
Juan Orellana, Alan H. Friedman
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Leber’s congenital amaurosis has been described as an infantile form of retinitis pigmentosa (RP), although in toddlers and adults it is a separate entity. It is also called hereditary retinal blindness and Leber’s congenital tapetoretinal degeneration.
Juan Orellana, Alan H. Friedman
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The ocular pathology in Leber's congenital amaurosis
Australian and New Zealand Journal of Ophthalmology, 1994Abstract Purpose: To present the ocular pathology of a three‐year‐old child with Leber's congenital amaurosis (LCA) who died from an unrelated episode of presumed viral meningitis. Methods: Autopsy was performed, and in addition the globes were harvested for pathological examination.
Sullivan, TJ +3 more
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2007
Purpose: Clinical evaluation of 42 patients with primarily suspected diagnosis of Leber's congenital amaurosis (LCA).
Matthias C. Grieshaber +2 more
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Purpose: Clinical evaluation of 42 patients with primarily suspected diagnosis of Leber's congenital amaurosis (LCA).
Matthias C. Grieshaber +2 more
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The Optic Disc in Leber Congenital Amaurosis
Journal of Pediatric Ophthalmology & Strabismus, 1992ABSTRACT 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. These commonly include optic atrophy, retinal arteriolar attenuation, and a variety of pigmentary changes. We retrospectively reviewed the optic
Sullivan, TJ +3 more
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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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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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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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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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