MACULAR PATTERN DYSTROPHY ASSOCIATED WITH A MUTATION OF MITOCHONDRIAL-DNA

被引：44
作者：
MASSIN, P
GUILLAUSSEAU, PJ
VIALETTES, B
PAQUIS, V
ORSINI, F
GRIMALDI, AD
GAUDRIC, A
机构：
[1] HOP LARIBOISIERE,DEPT MED,F-75010 PARIS,FRANCE
[2] HOP ST MARGUERITE,DEPT ENDOCRINOL,MARSEILLE,FRANCE
[3] LAB CELLULAR NEUROBIOL,NICE,FRANCE
[4] HOP ENFANTS LA TIMONE,DEPT OPHTHALMOL,MARSEILLE,FRANCE
[5] HOP LA PITIE SALPETRIERE,DEPT DIABETOL,PARIS,FRANCE
来源：
AMERICAN JOURNAL OF OPHTHALMOLOGY | 1995年 / 120卷 / 02期
关键词：
D O I：
10.1016/S0002-9394(14)72615-7
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
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.
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页码：247 / 248
页数：2
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