نتایج جستجو برای: lebers congenital amaurosis
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PURPOSE To describe in detail cases with an initial diagnosis of Leber congenital amaurosis that were later found to have a hemizygous mutation in the CACNA1F gene. METHODS The patients underwent a detailed ophthalmological evaluation and full-field electroretinography (ERG). Selective targeted capture and whole-exome next-generation sequencing (NGS) were used to find the disease-causing muta...
Joubert syndrome is an autosomal recessive condition in which there is a variable combination of central nervous system defects with a distinctive congenital retinal dystrophy, ocular motor abnormalities, and respiratory abnormalities in early infancy. The retinal dystrophy has been previously classified as a variant of Leber's congenital amaurosis. We report electrophysiologic and eye movement...
In the field of ophthalmology, gene therapy has focused on hereditary retinal dystrophy, including retinitis pigmentosa. Hereditary dystrophy is a group intractable diseases for which there currently no effective treatment, and expectations are regeneration using iPS cells. recent years, results number clinical trials therapies have been reported from Europe United States. Since 2017, drugs Leb...
Leber congenital amaurosis (LCA) is a severe hereditary retinal dystrophy responsible for congenital or early-onset blindness. The most common disease-causing mutation (>10%) is located deep in intron 26 of the CEP290 gene (c.2991+1655A>G). It creates a strong splice donor site that leads to insertion of a cryptic exon encoding a premature stop codon. In the present study, we show that the use ...
Nine young adults (median age 19.5 years) who suffered from amaurosis fugax (AF) are described. The attacks of AF were short in duration and preceded by premonitory symptoms in five cases and by a migrainous headache in two. In five patients the visual loss progressed in a lacunar pattern unlike the 'curtain' pattern characteristic of AF in older patients. Investigation revealed no evidence of ...
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