Exophthalmos in Kearns-Sayre syndrome

被引：2
|
作者：
Tauber, Jenna [1 ]
Polla, Daniel J. [2 ]
Park, Sunju [2 ]
机构：
[1] NYU, Sch Med, New York, NY USA
[2] Albert Einstein Coll Med, Montefiore Med Ctr, Bronx, NY 10467 USA
来源：
JOURNAL OF AAPOS | 2019年 / 23卷 / 05期
关键词：
D O I：
10.1016/j.jaapos.2019.05.005
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
Kearns-Sayre syndrome (KSS) is a rare mitochondria! DNA (mtDNA) deletion syndrome that typically presents before 20 years of age and is characterized by chronic progressive external ophthalmoplegia, pigmentary retinopathy, and a combination of cardiac conduction defects, cerebellar ataxia, and elevated cerebrospinal fluid protein levels. The mtDNA defects interfere with oxidative phosphorylation and can affect a number of cellular energy processes in various organs. We report the case of a 15-year-old girl with KSS that was uniquely associated with bilateral, symmetrical exophthalmos.
引用
收藏
页码：295 / 297
页数：3
相关论文
共 50 条
  • [1] Kearns-Sayre syndrome
    Alemany Palacio, A.
    Garcia Gonzalez, P.
    Meana Moris, A. R.
    [J]. ANALES DE PEDIATRIA, 2012, 76 (05): : 294 - 295
  • [2] KEARNS-SAYRE SYNDROME
    NEMET, P
    GODEL, V
    LAZAR, M
    [J]. BIRTH DEFECTS-ORIGINAL ARTICLE SERIES, 1982, 18 (06) : 263 - 268
  • [3] Kearns-Sayre syndrome
    Garcia-Sanchez, G
    Ruano-Calderon, LA
    Martinez-Cruz, CF
    Hernandez-Gomez, L
    Diaz-Garcia, M
    Torres-Rodriguez, AL
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 259 - 259
  • [4] Kearns-Sayre Syndrome
    Javadzadeh, Mohsen
    [J]. IRANIAN JOURNAL OF CHILD NEUROLOGY, 2013, 7 (04) : 22 - 23
  • [5] THE KEARNS-SAYRE SYNDROME
    DYADYK, AI
    GNILITSKAYA, VB
    SUROVTSEVA, NL
    YEVTUSHENKO, VA
    [J]. SOVETSKAYA MEDITSINA, 1990, (10): : 118 - 119
  • [6] Kearns-Sayre syndrome
    Mayer, W. J.
    Remy, M.
    Rudolph, G.
    [J]. OPHTHALMOLOGE, 2011, 108 (05): : 459 - 462
  • [7] KEARNS-SAYRE SYNDROME WITH HYPOPARATHYROIDISM
    HORWITZ, SJ
    ROESSMANN, U
    [J]. ANNALS OF NEUROLOGY, 1978, 3 (06) : 513 - 518
  • [8] CARDIOMYOPATHY IN THE KEARNS-SAYRE SYNDROME
    CHANNER, KS
    CHANNER, JL
    CAMPBELL, MJ
    REES, JR
    [J]. BRITISH HEART JOURNAL, 1988, 59 (04): : 486 - 490
  • [9] FAMILIAL KEARNS-SAYRE SYNDROME
    SCHNITZLER, ER
    ROBERTSON, WC
    [J]. NEUROLOGY, 1979, 29 (08) : 1172 - 1174
  • [10] NEUROPATHOLOGY IN KEARNS-SAYRE SYNDROME
    OLDFORS, A
    FYHR, IM
    HOLME, E
    LARSSON, NG
    TULINIUS, M
    [J]. ACTA NEUROPATHOLOGICA, 1990, 80 (05) : 541 - 546
12345