Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study

To report novel variants and characterize the phenotype associated with the autosomal recessive retinal dystrophy caused by mutations in the lecithin retinol acyltransferase (LRAT) gene. A total of 149 patients with Leber's congenital amaurosis (LCA) or early onset retinal dystrophy were screen...

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Veröffentlicht in:	Investigative ophthalmology & visual science 2012-06, Vol.53 (7), p.3927-3938
Hauptverfasser:	Dev Borman, Arundhati, Ocaka, Louise A, Mackay, Donna S, Ripamonti, Caterina, Henderson, Robert H, Moradi, Phillip, Hall, Georgina, Black, Graeme C, Robson, Anthony G, Holder, Graham E, Webster, Andrew R, Fitzke, Fred, Stockman, Andrew, Moore, Anthony T
Format:	Artikel
Sprache:	eng
Schlagworte:	Acyltransferases - deficiency Acyltransferases - genetics Child, Preschool Consanguinity Dark Adaptation DNA Mutational Analysis DNA Primers Electroretinography Female Humans Infant Leber Congenital Amaurosis - genetics Male Molecular Biology Mutation Night Blindness - genetics Oligonucleotide Array Sequence Analysis Phenotype Photoreceptor Cells, Vertebrate - pathology Retinal Dystrophies - diagnosis Retinal Dystrophies - enzymology Retinal Dystrophies - genetics Tomography, Optical Coherence Visual Acuity - physiology Visual Field Tests Visual Fields
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