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.

引用

页码：247 / 248

页数：2

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