title: Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence.
abstract: BACKGROUND
  The mitochondrial DNA A3243G point mutation is associated with a wide variety of systemic manifestations including a macular dystrophy. The characteristics of fundus autofluorescence (AF) in these patients are distinctive and have not been previously described.
  
  
  METHODS
  A complete history and ophthalmic examination, including fundus photography and autofluorescence imaging, was performed on twelve probands harbouring the A3243G point mutation.
  
  
  RESULTS
  Four patients had diabetes, 10/12 hearing loss, and 7/12 were visually symptomatic. A positive family history was present in 5/12. Fundus findings consisted of two primary phenotypes: discontinuous circumferentially oriented perifoveal atrophy (9/12) or an appearance consistent with pattern dystrophy (3/12). In both phenotypes pale deposits and pigment clumping were seen at the level of the retinal pigment epithelium, with occasional changes also noted outside the arcades and nasal to the optic nerve. Fundus AF imaging revealed decreased autofluorescence in areas of atrophy and increased AF of the pale subretinal deposits. In areas of the retina that appeared normal clinically, variable sized flecks of increased and decreased AF were present.
  
  
  CONCLUSIONS
  The mitochondrial DNA A3243G point mutation can result in disease with a variable presentation. Fundus autofluorescence reveals a recognisable phenotype in most cases that is different from other macular dystrophies.
authors.affiliation: Moorfields Eye Hospital, London, UK. prprath@yahoo.com
authors.forename: P P
authors.initials: PP
authors.lastname: Rath
authors.forename: S
authors.initials: S
authors.lastname: Jenkins
authors.forename: M
authors.initials: M
authors.lastname: Michaelides
authors.forename: A
authors.initials: A
authors.lastname: Smith
authors.forename: M G
authors.initials: MG
authors.lastname: Sweeney
authors.forename: M B
authors.initials: MB
authors.lastname: Davis
authors.forename: F W
authors.initials: FW
authors.lastname: Fitzke
authors.forename: A C
authors.initials: AC
authors.lastname: Bird
mesh_terms: D000328:Adult; D000368:Aged; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D003638:Deafness / Q000235:genetics / Q000473:pathology; D003920:Diabetes Mellitus / Q000235:genetics / Q000473:pathology; D005260:Female; D005453:Fluorescence; D005654:Fundus Oculi; D006801:Humans; D008297:Male; D018613:Microscopy, Confocal; D008875:Middle Aged; D009887:Ophthalmoscopy / Q000379:methods; D017354:Point Mutation; D012160:Retina / Q000473:pathology
chemical_list: D004272:DNA, Mitochondrial