Macular pattern dystrophy associated with a mutation of mitochondrial DNA

P Massin, PJ Guillausseau, B Vialettes, V Paquis… - American journal of …, 1995 - Elsevier
P Massin, PJ Guillausseau, B Vialettes, V Paquis, F Orsini, AD Grimaldi, A Gaudric
American journal of ophthalmology, 1995Elsevier
Purpose/Methods To establish the 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. Results/Conclusion 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 …
Purpose/Methods
To establish the 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.
Results/Conclusion
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.
Elsevier