Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene

Purpose The aim of this study is to report on the phenotype and genotype of five patients diagnosed with Cohen syndrome, an extremely rare autosomal recessive disorder manifesting with mental and physiological defects. Methods Five patients from three German families and one Syrian family underwent...

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Veröffentlicht in:	Acta ophthalmologica (Oxford, England) England), 2020-05, Vol.98 (3), p.e316-e321
Hauptverfasser:	Nasser, Fadi, Kurtenbach, Anne, Biskup, Saskia, Weidensee, Sabine, Kohl, Susanne, Zrenner, Eberhart
Format:	Artikel
Sprache:	eng
Schlagworte:	Acuity Adolescent Adult allele Blindness Child Cohen syndrome Color vision Developmental Disabilities - complications Developmental Disabilities - genetics Developmental Disabilities - physiopathology Electroretinograms Female Fingers - abnormalities Fingers - physiopathology Genetic screening genotype Genotype & phenotype Genotypes Hereditary diseases Humans Intellectual Disability - complications Intellectual Disability - genetics Intellectual Disability - physiopathology Male Microcephaly - complications Microcephaly - genetics Microcephaly - physiopathology Muscle Hypotonia - complications Muscle Hypotonia - genetics Muscle Hypotonia - physiopathology Mutation Myopia Myopia - complications Myopia - genetics Myopia - physiopathology Nonsense mutation Nyctalopia Obesity - complications Obesity - genetics Obesity - physiopathology Phenotype Phenotypes Retinal Degeneration - complications Retinal Degeneration - genetics Retinal Degeneration - physiopathology Retinitis Retinitis pigmentosa Retinitis Pigmentosa - etiology Retinitis Pigmentosa - genetics Retinitis Pigmentosa - physiopathology Vesicular Transport Proteins - genetics Young Adult
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