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Br J Ophthalmol 92:623-629 doi:10.1136/bjo.2007.131177
  • Clinical science
    • Original Article

Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence

Table 1 Maternally inherited diabetes and deafness patient characteristics at presentation
Patient no. Sex Age Initial diagnosis Visual symptoms Diabetes Hearing loss Maternal family history of diabetes Maternal family history of hearing loss
1 F 48 Usher No Yes Yes No No*
2 F 42 Central areolar choroidal sclerosis Yes No No No† No
3 F 53 Non-specific maculopathy Yes No Yes No Yes
4 F 47 Non-specific maculopathy Yes No Yes No Yes
5 F 36 Non-specific maculopathy Yes No Yes Yes No
6 M 65 Non-specific maculopathy Yes No Yes No No*
7 F 43 Pattern dystrophy No No Yes ? ?
8 M 43 Macular degeneration Yes Yes Yes No† No
9 F 38 Non-specific maculopathy Yes No Yes No No
10 F 55 Stargardt versus mitochondrial No No Yes No Yes
11 F 48 Macular atrophy No Yes No Yes Yes
12 M 46 Non-specific maculopathy No Yes Yes No Yes
Total 7/12 4/12 10/12 2/12 5/12

  • *Hearing loss diagnosed after the age of 75; patients 3 and 4 are a mother and daughter, and ages are at presentation of disease.

  • †Adult onset DM diagnosed at age 60.

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