title: Leber's hereditary optic neuropathy with molecular characterization in two Indian families.
abstract: OBJECTIVE
  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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India. icverma@vsnl.com
authors.forename: I C
authors.initials: IC
authors.lastname: Verma
authors.forename: Sunita
authors.initials: S
authors.lastname: Bijarnia
authors.forename: Renu
authors.initials: R
authors.lastname: Saxena
authors.forename: Sudha
authors.initials: S
authors.lastname: Kohli
authors.forename: Ratna Dua
authors.initials: RD
authors.lastname: Puri
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Thomas
authors.forename: Debashish
authors.initials: D
authors.lastname: Chowdhary
authors.forename: S N
authors.initials: SN
authors.lastname: Jha
authors.forename: A K
authors.initials: AK
authors.lastname: Grover
mesh_terms: D000293:Adolescent; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D007194:India; D008297:Male; D009154:Mutation; D009245:NADH Dehydrogenase / Q000235:genetics*; D029242:Optic Atrophy, Hereditary, Leber / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: D004272:DNA, Mitochondrial; D009245:NADH Dehydrogenase; C098483:NADH dehydrogenase subunit 4; C515075:NADH dehydrogenase subunit 1, human