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Ophthalmic Genetics Volume 23, 2002 - Issue 4
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Research Article

Corneal decompensation in a boy with Kearns-Sayre syndrome

F.N. Boonstra Bartimeus Institute for Visually Handicapped Children, Zeist
,
I. Claerhout Department of Ophthalmology, University Hospital of Ghent, Belgium
,
F.A. Hol Department of Human Genetics, University Medical Center Nijmegen
,
G.P.A. Smit Department of Pediatrics, Division of Metabolic Diseases, University Hospital Groningen, Groningen
,
J.J.M. van Collenburg Department of Pediatrics, Isala Klinieken, Zwolle, The Netherlands
&
F.M. Meire Bartimeus Institute for Visually Handicapped Children, Zeist; Department of Ophthalmology, University Hospital of Ghent, Belgium
Pages 247-251 | Published online: 08 Jul 2009

References

  • Chang TS, Johns DR, Stark WJ, Drachman DB, Green WR. Corneal decompensation in mitochondrial ophthalmoplegia plus (Kearns-Sayre) syndrome. Cornea. 1994; 13(3):269–273.
  • Nakagawa E, Hirano S, Yamanouchi H, Goto Y, Nonaka I, Takashima S. Progressive brainstem and white matter lesions in Kearns-Sayre syndrome: a case report. Brain Dev. 1994;16:416–418.
  • Nagakawa E, Osari S, Yamanouchi H, Matsuda H, Goto Y, Nonaka I. Long-term therapy with cytochrome c, flavin mononucleotide and thiamine diphosphate for a patient with Kearns-Sayre syndrome. Brain Dev. 1996;18:68–70.
  • Ohkoshi K, Ishida N, Yamaguchi T, Kanki K. Corneal endothelium in a case of mitochondrial encephalomyopathy (Kearns-Sayre syndrome). Cornea. 1989;8(3): 210–214.
  • Seneca S, Verhelst H, De Meirleir L, Meire F, Ceuterick-De Groote, Lissens W, Van Coster R. A new mitochondrial point mutation in tRNAL" gene in a patient with clinical phenotype resembling Kearns Sayre syndrome. Arch Neurol. 2001;58:1113–1118.
  • Laing RA, Chiba K, Tsubota K, Oak SS. Metabolic and morphologic changes in the corneal endothelium. Invest Ophthalmol Vis Sci. 1992;33: 3315–3324.
  • Chang TS, Johns DR, Walker D, de la Cruz Z, Maumenee IH, Green R. Ocular clinico-pathologic study of the mitochondrial encephalomyopathy overlap syndromes. Arch Ophthalmol. 1993;w:1254–1262.
  • Mirabella M, Di Giovanni S, Silvestri G, Tonali P, Servidei S. Apoptosis in mitochondrial encephalomyopathies with mitochondrial DNA mutations: a potential pathogenic mechanism.Brain. 2000;123:93–104.

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