Macular pattern dystrophy associated with a mutation of mitochondrial DNA.
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.
Massin
P
P
Department of Ophthalmology, Hôpital Lariboisière, Paris, France.
Guillausseau
P J
PJ
Vialettes
B
B
Paquis
V
V
Orsini
F
F
Grimaldi
A D
AD
Gaudric
A
A
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
D004272:DNA, Mitochondrial