Documenta Ophthalmologica

, Volume 82, Issue 1, pp 73–79

Kearns-Sayre's syndrome developing in a boy who survived Pearson's syndrome caused by mitochondrial DNA deletion

  • H. J. Simonsz
  • K. Bärlocher
  • A. Rötig
Section 4: Pediatric Ophthalmology, Strabismus, and Genetics

DOI: 10.1007/BF00156996

Cite this article as:
Simonsz, H.J., Bärlocher, K. & Rötig, A. Doc Ophthalmol (1992) 82: 73. doi:10.1007/BF00156996


A 7-year-old boy presented with bilateral ptosis and atypical retinitis pigmentosa. Before age two, he had had an Fe-refractory anemia, with neutropenia and thrombopenia. Just prior to the ophthalmic examination, the patient developed lactate acidosis, muscular hypotonia, ataxia and increased protein in the spinal fluid. Pancytopenia, pancreas dysfunction and growth retardation are the main features of Pearson's syndrome, most children not surviving beyond age three. The cause of Pearson's syndrome in our patient turned out to be a 5 kb deletion in the mitchondrial DNA. Similar deletions have been described in the Kearns-Sayre syndrome. It seems that children who survive the initial phase of Pearson's syndrome, may develop Kearns-Sayre syndrome.

Key words

Chronic progressive external ophthalmoplegiaKearns-Sayre SyndromeMitochondrial DNAPearson syndrome

Copyright information

© Kluwer Academic Publishers 1992

Authors and Affiliations

  • H. J. Simonsz
    • 1
  • K. Bärlocher
    • 2
  • A. Rötig
    • 3
  1. 1.Netherlands Ophthalmic Research InstituteAmsterdamThe Netherlands
  2. 2.Ostschweizerische KinderspitalSankt GallenSwitzerland
  3. 3.Hôpital des Enfants-MaladesParisFrance
  4. 4.Department of OphthalmologyAcademic HospitalRotterdamThe Netherlands