Cone and rod dysfunction in the NARP syndrome
نویسندگان
چکیده
منابع مشابه
Cone and rod dysfunction in the NARP syndrome.
AIMS Description of the ophthalmic manifestations of the NARP (neuropathy, ataxia, retinitis pigmentosa) syndrome that is associated with a point mutation in position 8993 of the mitochondrial DNA (mtDNA). METHODS A mother and her two children, all carrying the 8993 mtDNA mutation, were examined. Two had manifestations of the NARP syndrome. A complete ocular and systemic examination was perfo...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 1999
ISSN: 0007-1161
DOI: 10.1136/bjo.83.2.190