A family with apparently sex-linked optic atrophy.
نویسندگان
چکیده
منابع مشابه
A family with apparently sex-linked optic atrophy.
A family is described in which a probable new form of sex-linked optic atrophy was found in eight individuals. Some additional neurological abnormalities were noted. Results of studies of the Xg blood group excluded close linkage between the optic atrophy and Xg genes. As a probable coincidence, Huntington's chorea was found in a side branch of the family.
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OBJECTIVE To describe retinal and optic disc atrophy and a progressive decrease of visual function in 2 Japanese brothers. Both had a mutation in the CACNA1F gene, the causative gene of incomplete congenital stationary night blindness (CSNB). METHODS We studied observational case reports and performed comprehensive ophthalmologic examinations including best-corrected visual acuity, biomicrosc...
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PURPOSE To report a novel mutation of the OPA1 gene in a Japanese family with optic atrophy type 1 (OPA1) and to describe the clinical features of this family. METHODS Standard ocular examinations were performed on the proband and his two affected sons. The DNA sequence of all exons and splice sites of the OPA1 gene was determined to detect mutations. RESULTS The proband and his sons had a ...
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BASIC CONSIDERATIONS Optic atrophy is a misleading term which, embedded by tradition and usage, resists precise definition. It is used when there is excessive pallor of the optic disc and is thus a physical sign and not a diagnosis. Since there are many causes of optic pallor, the term is usually reserved for those cases in which there is associated visual defect, either of fields or acuity, in...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1975
ISSN: 1468-6244
DOI: 10.1136/jmg.12.1.94