Results 161 to 170 of about 9,513 (213)

Leber’s Congenital Amaurosis

2007
Purpose: Clinical evaluation of 42 patients with primarily suspected diagnosis of Leber's congenital amaurosis (LCA).
Matthias C. Grieshaber, Eugen Boltshauser, Günter Niemeyer   +2 more
openaire   +1 more source

Leber’s Congenital Amaurosis

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
openaire   +1 more source

Leber's congenital amaurosis: an update

European Journal of Paediatric Neurology, 2003
Leber's congenital amaurosis (LCA) is a clinically and genetically heterogeneous disorder characterized by severe loss of vision at birth. It accounts for 10-18% of cases of congenital blindness. Some patients exhibit only blindness of retinal origin whereas others show evidence of a multi-systemic involvement. We review the literature relating to this
Elisa, Fazzi, Sabrina Giovanna, Signorini, Barbara, Scelsa, Stefania Maria, Bova, Giovanni, Lanzi   +4 more
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Vision in Leber Congenital Amaurosis

Archives of Ophthalmology, 1996
To determine if vision changed with age in infants and children with Leber congenital amaurosis.Grating acuity and dark-adapted visual thresholds were tested in 36 patients with Leber congenital amaurosis. Longitudinal assessments were obtained for 24 patients and analyzed for significant changes over time.
A B, Fulton, R M, Hansen, D L, Mayer
openaire   +2 more sources

Photoaversion in Leber's congenital amaurosis

Ophthalmic Genetics, 1995
Photoaversion is a prominent symptom of a number of infantile genetic ocular disorder such as congenital glaucoma, aniridia, albinism, and cone dystrophies including achromatopsia. Photoaversion has not been widely recognized as a clinical feature of Leber's congenital amaurosis.
E I, Traboulsi, I H, Maumenee
openaire   +2 more sources

The Heterogeneity of Leber's Congenital Amaurosis

Journal of Inherited Metabolic Disease, 1989
Recent clinical and biochemical studies have revealed the existence of a ‘peroxisomal disorder’ originating in dysfunction of peroxisomes. In spite of intensive studies, the primary lesion of Zellweger syndrome is obscure (Aikawa et al., 1987). Johan et al. (1986) reported peroxisomal dysfunction in a boy with neurological symptoms and amaurosis.
J, Aikawa, T, Noro, K, Tada, K, Narisawa, T, Hashimoto   +4 more
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Leber's Congenital Amaurosis Associated with Hyperthreoninemia

American Journal of Ophthalmology, 1986
Two 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, S, Hara, K, Mizuno, K, Narisawa, K, Tada   +4 more
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Hyperopia in Complicated Leber's Congenital Amaurosis

Archives of Ophthalmology, 1990
We 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, M J, Leys, R M, Hansen, A B, Fulton   +3 more
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A pedigree of Leber's congenital amaurosis

Ophthalmic Paediatrics and Genetics, 1988
A 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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Leber's congenital amaurosis.

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 ...
openaire   +2 more sources