Document Detail

Kearns syndrome or Kearns disease. Further evidence of a genuine entity in a case with uncommon features.
MedLine Citation:
PMID:  7054739     Owner:  NLM     Status:  MEDLINE    
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.
L A Bastiaensen; S L Notermans; C H Ramaekers; B J van Dijke; E M Joosten; H H Jaspar; A M Stadhouders; C T Beljaars
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift für Augenheilkunde     Volume:  184     ISSN:  0030-3755     ISO Abbreviation:  Ophthalmologica     Publication Date:  1982  
Date Detail:
Created Date:  1982-03-13     Completed Date:  1982-03-13     Revised Date:  2007-09-17    
Medline Journal Info:
Nlm Unique ID:  0054655     Medline TA:  Ophthalmologica     Country:  SWITZERLAND    
Other Details:
Languages:  eng     Pagination:  40-50     Citation Subset:  IM    
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MeSH Terms
Blepharoptosis / complications,  genetics*
Child, Preschool
Eye Diseases / diagnosis
Fixation, Ocular
Fluorescein Angiography
Genes, Dominant
Microscopy, Electron
Mitochondria, Muscle / ultrastructure
Ophthalmoplegia / complications*
Pigment Epithelium of Eye*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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