title: Macular pattern dystrophy associated with a mutation of mitochondrial DNA.
abstract: OBJECTIVE
  To establish association of a macular pattern dystrophy with maternally inherited diabetes and deafness, a new subtype of diabetes mellitus caused by a mutation of mitochondrial DNA (mtDNA). Two probands of two different families with maternally inherited diabetes and deafness were examined.
  
  
  CONCLUSIONS
  Both probands exhibited a macular pattern dystrophy, maternally inherited in one patient. The association of a macular pattern dystrophy with diabetes should lead to screening for a mutation of mtDNA.
authors.affiliation: Department of Ophthalmology, Hôpital Lariboisière, Paris, France.
authors.forename: P
authors.initials: P
authors.lastname: Massin
authors.forename: P J
authors.initials: PJ
authors.lastname: Guillausseau
authors.forename: B
authors.initials: B
authors.lastname: Vialettes
authors.forename: V
authors.initials: V
authors.lastname: Paquis
authors.forename: F
authors.initials: F
authors.lastname: Orsini
authors.forename: A D
authors.initials: AD
authors.lastname: Grimaldi
authors.forename: A
authors.initials: A
authors.lastname: Gaudric
mesh_terms: D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics*; D003920:Diabetes Mellitus / Q000209:etiology / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006319:Hearing Loss, Sensorineural / Q000209:etiology / Q000235:genetics*; D006801:Humans; D008266:Macula Lutea / Q000473:pathology*; D008268:Macular Degeneration / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D017354:Point Mutation
chemical_list: D004272:DNA, Mitochondrial