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Kearns-Sayre syndrome -3 case reports and review of clinical feature

Seong Bae Park1, Kyoung Tak Ma, Koung Hun Kook

  • 1The Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, 134 Shinchon-dong, Seodaemun-gu, Seoul 120-752, Korea.

Yonsei Medical Journal
|September 3, 2004
PubMed

Insights

Kearns-Sayre syndrome is a rare mitochondrial disorder characterized by ptosis, limited eye movement, and retinal changes. This report details three male adolescent cases presenting with typical Kearns-Sayre syndrome clinical features.

Area of Science:

  • Neurology
  • Genetics
  • Ophthalmology

Background:

  • Kearns-Sayre syndrome (KSS) is a rare mitochondrial DNA deletion disorder.
  • KSS typically presents in childhood or adolescence with a triad of ptosis, progressive external ophthalmoplegia, and pigmentary retinopathy.
  • Associated symptoms can include ataxia, dementia, diabetes, and hyperaldosteronism.

Observation:

  • This study reports on three male adolescent patients diagnosed with Kearns-Sayre syndrome.
  • Clinical presentation included ptosis, limited ocular motility, and retinal pigmentary changes.
  • Muscle biopsy findings, characteristic of mitochondrial disorders, were observed.

Findings:

  • The three cases presented with the classic triad of KSS symptoms.
  • Mitochondrial abnormalities and ragged-red fibers were noted on muscle biopsy.
  • The patients exhibited features consistent with Kearns-Sayre syndrome.

Implications:

  • This case series highlights the importance of recognizing KSS in adolescents presenting with ophthalmologic and neurologic symptoms.
  • Early diagnosis and management are crucial for patients with Kearns-Sayre syndrome.
  • Further research into the genetic and clinical spectrum of KSS is warranted.

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