Leber's hereditary optic neuropathy with molecular characterization in two Indian families.

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dc.contributor.authorVerma, I Cen_US
dc.contributor.authorBijarnia, Sunitaen_US
dc.contributor.authorSaxena, Renuen_US
dc.contributor.authorKohli, Sudhaen_US
dc.contributor.authorPuri, Ratna Duaen_US
dc.contributor.authorThomas, Elizabethen_US
dc.contributor.authorChowdhary, Debashishen_US
dc.contributor.authorJha, S Nen_US
dc.contributor.authorGrover, A Ken_US
dc.date.accessioned2005-09-03en_US
dc.date.accessioned2009-05-29T08:39:21Z
dc.date.available2005-09-03en_US
dc.date.available2009-05-29T08:39:21Z
dc.date.issued2005-09-03en_US
dc.description.abstractPURPOSE: Leber's hereditary optic neuropathy (LHON) presents in early adulthood with painless progressive blindness of one or both eyes. Usually there is a positive family history of similar disease on the maternal side. Definitive diagnosis can be established by finding the change in the mitochondrial gene. No molecular studies have been reported from India. MATERIAL AND METHODS: Clinical, ophthalmologic and molecular studies were carried out in two patients from different families and available first degree relatives. The subjects were tested for the three common mutations seen in LHON by molecular techniques of polymerase chain reaction using mutation specific primers. RESULTS: The mutations G3460A and G11778A in the mitochondrial genes MTND1 and MTND4, known to be causative for LHON, were found in one family each. CONCLUSION: Diagnosis of LHON should be considered in familial cases and in young adults with optic atrophy. Confirmation of diagnosis should be sought by molecular gene analysis. Genetic counselling should be offered to all 'at risk' relatives of a patient harbouring the mutation.en_US
dc.description.affiliationDepartment of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India. icverma@vsnl.comen_US
dc.identifier.citationVerma IC, Bijarnia S, Saxena R, Kohli S, Puri RD, Thomas E, Chowdhary D, Jha SN, Grover AK. Leber's hereditary optic neuropathy with molecular characterization in two Indian families. Indian Journal of Ophthalmology. 2005 Sep; 53(3): 167-71en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/70720
dc.language.isoengen_US
dc.source.urihttps://www.ijo.inen_US
dc.subject.meshAdolescenten_US
dc.subject.meshDNA, Mitochondrial --geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshIndiaen_US
dc.subject.meshMaleen_US
dc.subject.meshMutationen_US
dc.subject.meshNADH Dehydrogenase --geneticsen_US
dc.subject.meshOptic Atrophy, Hereditary, Leber --diagnosisen_US
dc.subject.meshPedigreeen_US
dc.subject.meshPolymerase Chain Reactionen_US
dc.titleLeber's hereditary optic neuropathy with molecular characterization in two Indian families.en_US
dc.typeCase Reportsen_US
dc.typeJournal Articleen_US
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