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 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.
journal_name
Indian J Ophthalmoljournal_title
Indian journal of ophthalmologyauthors
Verma IC,Bijarnia S,Saxena R,Kohli S,Puri RD,Thomas E,Chowdhary D,Jha SN,Grover AKdoi
10.4103/0301-4738.16674keywords:
subject
Has Abstractpub_date
2005-09-01 00:00:00pages
167-71issue
3eissn
0301-4738issn
1998-3689journal_volume
53pub_type
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abstract:: ...
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abstract::[This corrects the article DOI: 10.4103/0301-4738.171956.]. ...
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