Leber's hereditary optic neuropathy with molecular characterization in two Indian families.
Indian J Ophthalmol
;
2005 Sep; 53(3): 167-71
Article
Dans Anglais
| IMSEAR
| ID: sea-70720
ABSTRACT
PURPOSE:
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 ANDMETHODS:
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.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Pedigree
/
Humains
/
Mâle
/
ADN mitochondrial
/
Réaction de polymérisation en chaîne
/
Adolescent
/
Atrophie optique héréditaire de Leber
/
Inde
/
Mutation
/
NADH dehydrogenase
Pays comme sujet:
Asie
langue:
Anglais
Texte intégral:
Indian J Ophthalmol
Année:
2005
Type:
Article
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