Results 151 to 160 of about 266,209 (210)
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Photoaversion in Leber's congenital amaurosis
Ophthalmic Genetics, 1995Photoaversion 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.
Elias I Traboulsi, Irene H. Maumenee
exaly +3 more sources
American Journal of Ophthalmology, 1977
An early stage of Leber's congenital amaurosis, characterized by white spots or lines in the fundus, occurred in two children. Light microscopic examination of eyes obtained from one child, a 16-month-old Japanese girl, revealed subretinal deposits corresponding to the white spots and lines in the fundus deposits.
K, Mizuno +5 more
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An early stage of Leber's congenital amaurosis, characterized by white spots or lines in the fundus, occurred in two children. Light microscopic examination of eyes obtained from one child, a 16-month-old Japanese girl, revealed subretinal deposits corresponding to the white spots and lines in the fundus deposits.
K, Mizuno +5 more
openaire +2 more sources
Molecular Genetics and Metabolism, 1999
Leber's congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies responsible for congenital blindness. Genetic heterogeneity of LCA has been suspected since the report by Waardenburg of normal children born to affected parents.
I, Perrault +9 more
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Leber's congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies responsible for congenital blindness. Genetic heterogeneity of LCA has been suspected since the report by Waardenburg of normal children born to affected parents.
I, Perrault +9 more
openaire +2 more sources
The Heterogeneity of Leber's Congenital Amaurosis
Journal of Inherited Metabolic Disease, 1989Recent 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 +4 more
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Leber's congenital amaurosis: an update
European Journal of Paediatric Neurology, 2003Leber'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 +4 more
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Vision in Leber Congenital Amaurosis
Archives of Ophthalmology, 1996To 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
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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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2018
Leber congenital amaurosis (LCA) is a part of the spectrum of early-onset retinal dystrophy (EORD). It usually presents in the first few years of life, most often before the age of 1 year. The prevalence is about 1:80,000. Also known as congenital retinitis pigmentosa (RP), patients have wandering nystagmus, with reduced vision from birth.
Stephen H, Tsang, Tarun, Sharma
openaire +3 more sources
Leber congenital amaurosis (LCA) is a part of the spectrum of early-onset retinal dystrophy (EORD). It usually presents in the first few years of life, most often before the age of 1 year. The prevalence is about 1:80,000. Also known as congenital retinitis pigmentosa (RP), patients have wandering nystagmus, with reduced vision from birth.
Stephen H, Tsang, Tarun, Sharma
openaire +3 more sources
2012
Abstract Much has changed in our understanding of LCA in the past 12 years and since our last writing of this chapter in 1998. Today, we know through genetic analysis that there are at least 16 LCA genes, encoding proteins with heterogeneous retinal functions.
Robert K. Koenekoop +3 more
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Abstract Much has changed in our understanding of LCA in the past 12 years and since our last writing of this chapter in 1998. Today, we know through genetic analysis that there are at least 16 LCA genes, encoding proteins with heterogeneous retinal functions.
Robert K. Koenekoop +3 more
openaire +2 more sources
American Journal of Ophthalmology, 1966
In two families with congenital amaurosis of Leber, keratoglobus was found in all affected members and posterior subcapsular cataracts in most of them. Consanguinity was present in one family. Pathologic findings in one enucleated eye were presented. The literature on this disease was briefly reviewed.
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In two families with congenital amaurosis of Leber, keratoglobus was found in all affected members and posterior subcapsular cataracts in most of them. Consanguinity was present in one family. Pathologic findings in one enucleated eye were presented. The literature on this disease was briefly reviewed.
openaire +2 more sources