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The Clinical Findings, Pathogenic Variants, and Gene Therapy Qualifications Found in a Leber Congenital Amaurosis Phenotypic Spectrum Patient Cohort. [PDF]
Int J Mol SciSather R +4 more
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Ablation of Fatty Acid Transport Protein-4 Enhances Cone Survival, M-cone Vision, and Synthesis of Cone-Tropic 9-<i>cis</i>-Retinal in <i>rd</i>12 Mouse Model of Leber Congenital Amaurosis. [PDF]
J NeurosciLi S, Jin M.
europepmc +1 more source
Correction to: Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors. [PDF]
Hum Mol Geneteuropepmc +1 more source
State-of-the-art of gene therapy for inherited retinal dystrophies [PDF]
, 2013 Coll Tané, Mireia +1 more
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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
openaire +2 more sources
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
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
openaire +2 more sources
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
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 +2 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 +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.
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