Results 221 to 230 of about 12,927 (274)
Some of the next articles are maybe not open access.
Ophthalmic Genetics, 2021
Purpose: Leber congenital amaurosis (LCA) is one of the earliest inherited retinal dystrophies (IRD) that leads to blindness. To date, there have been 25 LCA-associated genes reported in China as well as other countries.
Luyao Zhu +6 more
semanticscholar +1 more source
Purpose: Leber congenital amaurosis (LCA) is one of the earliest inherited retinal dystrophies (IRD) that leads to blindness. To date, there have been 25 LCA-associated genes reported in China as well as other countries.
Luyao Zhu +6 more
semanticscholar +1 more source
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.
openaire +2 more sources
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
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
openaire +2 more sources
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
2007
Purpose: Clinical evaluation of 42 patients with primarily suspected diagnosis of Leber's congenital amaurosis (LCA).
Matthias C. Grieshaber +2 more
openaire +1 more source
Purpose: Clinical evaluation of 42 patients with primarily suspected diagnosis of Leber's congenital amaurosis (LCA).
Matthias C. Grieshaber +2 more
openaire +1 more source
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 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, 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
openaire +2 more sources
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
openaire +2 more sources
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.
E I, Traboulsi, I H, Maumenee
openaire +2 more sources
British Journal of Ophthalmology, 2019
Background Leber congenital amaurosis (LCA) and early onset severe retinal dystrophy (EOSRD) are clinically and genetically heterogeneous inherited retinal disorders that cause severe visual impairment in children.
K. Xu +5 more
semanticscholar +1 more source
Background Leber congenital amaurosis (LCA) and early onset severe retinal dystrophy (EOSRD) are clinically and genetically heterogeneous inherited retinal disorders that cause severe visual impairment in children.
K. Xu +5 more
semanticscholar +1 more source
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
openaire +2 more sources