Kearns syndrome or Kearns disease. Further evidence of a genuine entity in a case with uncommon features.
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.
D000293:Adolescent; D000328:Adult; D001763:Blepharoptosis / Q000150:complications / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005128:Eye Diseases / Q000175:diagnosis; D005260:Female; D005403:Fixation, Ocular; D005451:Fluorescein Angiography; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008931:Mitochondria, Muscle / Q000648:ultrastructure; D009886:Ophthalmoplegia / Q000150:complications*; D010375:Pedigree; D010857:Pigment Epithelium of Eye; D013577:Syndrome