PURPOSE/ METHODS: 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. 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.
PURPOSE/ METHODS: 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. 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.
Authors: Chen Zhao; Douglas Yasumura; Xiyan Li; Michael Matthes; Marcia Lloyd; Gregory Nielsen; Kelly Ahern; Michael Snyder; Dean Bok; Joshua L Dunaief; Matthew M LaVail; Douglas Vollrath Journal: J Clin Invest Date: 2010-12-06 Impact factor: 14.808
Authors: P Massin; D Dubois-Laforgue; T Meas; M Laloi-Michelin; H Gin; B Bauduceau; C Bellanné-Chantelot; E Bertin; J-F Blickle; B Bouhanick; J Cahen-Varsaux; S Casanova; G Charpentier; P Chedin; O Dupuy; A Grimaldi; B Guerci; E Kaloustian; A Lecleire-Collet; F Lorenzini; A Murat; H Narbonne; F Olivier; V Paquis-Flucklinger; M Virally; M Vincenot; B Vialettes; J Timsit; P J Guillausseau Journal: Diabetologia Date: 2008-06-26 Impact factor: 10.122
Authors: P P Rath; S Jenkins; M Michaelides; A Smith; M G Sweeney; M B Davis; F W Fitzke; A C Bird Journal: Br J Ophthalmol Date: 2008-05 Impact factor: 4.638