Kearns Syndrome or Kearns Disease
作者:
L.A.K. Bastiaensen,
S.L.H. Notermans,
C.H. Ramaekers,
B.J. van Dijke,
E.M.G. Joosten,
H.H.J. Jaspar,
A.M. Stadhouders,
C.T.E. Beljaars,
期刊:
Ophthalmologica
(Karger Available online 1982)
卷期:
Volume 184,
issue 1
页码: 40-50
ISSN:0030-3755
年代: 1982
DOI:10.1159/000309183
出版商: S. Karger AG
关键词: Kearns syndrome;Chronic progressive external ophthalmoplegia;Mitochondrial multisystemic disease;Gliding anomaly of retinal correspondence
数据来源: Karger
摘要:
A 20-year-old man with the characteristic findings of infantile onset Kearns syndrome is described. Morphological and biochemical investigations proved a mitochondrial disease which we believe to be the cause of the symptoms in various organs. We assume an autosomal-dominant inheritance, the marker sign of which is blepharoptosis in several family members. Characteristic clinical, morphological and biochemical findings, combined with an autosomal-dominant inheritance with very variable expression, mark the Kearns syndrome as an individual disease, not as a symptom complex (syndrome). Kearns disease can be divided into three forms – an infantile form (‘Kearns-Sayre syndrome’) with early onset, rapid progression, multisystemic involvement and a severe course; and a juvenile and an adult form with onset in the second, respectively third (or later) decades with a generally slower and more benign course and less widespread expression in various organ systems. Furthermore, the occurrence of a curious orthoptic abnormality is described, indicating one of the possible ways to avoid diplopia in chronic progressive external ophthalmoplegia: the coexistence of normal and gliding abnormal retinal correspondence.
点击下载:
PDF
(1870KB)
返 回