Two sisters with macular dystrophy caused by the 3243A>G mitochondrial DNA mutation

详细信息    查看全文

• 作者：V. Sá ; nchez-Gutié ; rrez ; ^{verosangu@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; J. Garcí ; a-Montesinos ; A. Pardo-Mu&ntilde ; oz
• 关键词：Macular dystrophy ; Diabetes ; Deafness ; Mitochondrial DNA ; Mitochondrial disease ; Ballinger-Wallace syndrome
• 刊名：Archivos de la Sociedad Española de Oftalmología (English Edition)
• 出版年：2016
• 出版时间：May 2016
• 年：2016
• 卷：91
• 期：5
• 页码：240-244
• 全文大小：1526 K

文摘

Two sisters, 54 and 60 years old, with a history of diabetes and deafness, consulted for decreased visual acuity (VA). Funduscopic examination revealed patchy areas of chorioretinal atrophy with annular arrangement around the fovea. Genetic study identified the heteroplasmic mutation 3243A>G in mitochondrial DNA, which supports the syndrome maternally inherited diabetes and deafness (MIDD) or Ballinger-Wallace disease.

Discussion

The finding of such macular disorders, especially in the presence of diabetes mellitus and deafness, should suggest the performing of a mitochondrial genome screening to identify this unusual syndrome.