Retinal detachment and microangiopathy in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome

被引：3
作者：
Sultan, Harris [1 ,2 ]
Kellogg, Clint [1 ]
El-Annan, Jaafar [1 ]
机构：
[1] Univ Texas Med Branch, Dept Ophthalmol, 700 Univ Blvd, Galveston, TX 77555 USA
[2] Houston Methodist Hosp, Blanton Eye Inst, Dept Ophthalmol, Houston, TX USA
来源：
CANADIAN JOURNAL OF OPHTHALMOLOGY-JOURNAL CANADIEN D OPHTALMOLOGIE | 2017年 / 52卷 / 06期
关键词：
MELAS SYNDROME; NITRIC-OXIDE; MUTATION; DYSTROPHY; DNA;
D O I：
10.1016/j.jcjo.2017.05.007
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
引用
收藏
页码：E208 / E211
页数：5
相关论文
共 11 条
[1]   Central Areolar Choroidal Dystrophy [J].
Boon, Camiel J. F. ;
Klevering, B. Jeroen ;
Cremers, Frans P. M. ;
Zonneveld-Vrieling, Marijke N. ;
Theelen, Thomas ;
Den Hollander, Anneke I. ;
Hoyng, Carel B. .
OPHTHALMOLOGY, 2009, 116 (04) :771-782
[2]   Macular dystrophy associated with the mitochondrial DNA A3243G mutation: pericentral pigment deposits or atrophy? Report of two cases and review of the literature [J].
Daruich, Alejandra ;
Matet, Alexandre ;
Borruat, Francois-Xavier .
BMC OPHTHALMOLOGY, 2014, 14
[3]   Mitochondrial Retinal Dystrophy Associated with the m.3243A>G Mutation [J].
de Laat, Paul ;
Smeitink, Jan A. M. ;
Janssen, Mirian C. H. ;
Keunen, Jan E. E. ;
Boon, Camiel J. F. .
OPHTHALMOLOGY, 2013, 120 (12) :2684-2696
[4]   MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options [J].
El-Hattab, Ayman W. ;
Adesina, Adekunle M. ;
Jones, Jeremy ;
Scaglia, Fernando .
MOLECULAR GENETICS AND METABOLISM, 2015, 116 (1-2) :4-12
[5]   The A3243G tRNALeu(UUR) mutation induces mitochondrial dysfunction and variable disease expression without dominant negative acting translational defects in complex IV subunits at UUR codons [J].
Janssen, George M. C. ;
Hensbergen, Paul J. ;
van Bussel, Frans J. ;
Balog, Crina I. A. ;
Maassen, J. Antonie ;
Deelder, Andre M. ;
Raap, Anton K. .
HUMAN MOLECULAR GENETICS, 2007, 16 (20) :2472-2481
[6]   Pigmentary retinopathy in patients with the MELAS mutation 3243A→G in mitochondrial DNA [J].
Latvala, T ;
Mustonen, E ;
Uusitalo, R ;
Majamaa, K .
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2002, 240 (10) :795-801
[7]   Prevalence of macular pattern dystrophy in maternally inherited diabetes and deafness [J].
Massin, P ;
Virally-Monod, M ;
Vialettes, B ;
Paques, M ;
Gin, H ;
Porokhov, B ;
Caillat-Zucman, S ;
Froguel, P ;
Paquis-Fluckinger, V ;
Gaudric, A ;
Guillausseau, PJ .
OPHTHALMOLOGY, 1999, 106 (09) :1821-1827
[8]   Choroidal blood flow compensation in rats for arterial blood pressure decreases is neuronal nitric oxide-dependent but compensation for arterial blood pressure increases is not [J].
Reiner, Anton ;
Li, Chunyan ;
Del Mar, Nobel ;
Fitzgerald, Malinda E. C. .
EXPERIMENTAL EYE RESEARCH, 2010, 90 (06) :734-741
[9]  
RUMMELT V, 1993, OPHTHALMOLOGY, V100, P1757
[10]   Central Areolar Choroidal Dystrophy (CACD) and Age-Related Macular Degeneration (AMD): Differentiating Characteristics in Multimodal Imaging [J].
Smailhodzic, Dzenita ;
Fleckenstein, Monika ;
Theelen, Thomas ;
Boon, Camiel J. F. ;
van Huet, Ramon A. C. ;
de Ven, Johannes P. H. van ;
Den Hollander, Anneke I. ;
Schmitz-Valckenberg, Steffen ;
Hoyng, Carel B. ;
Weber, Bernhard H. F. ;
Holz, Frank G. ;
Klevering, B. Jeroen .
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2011, 52 (12) :8908-8918
12