Introduction: 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.