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Related Experiment Video

Updated: Jun 24, 2026

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
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[Kearns-Sayre syndrome: two case reports].

Luiz Alberto Zago Filho1, Naoye Shiokawa

  • 1Departamento de Otorrino/Oftalmologia da Universidade Federal do Paraná - Curitiba (PR) - Brasil. luzago@gmail.com

Arquivos Brasileiros De Oftalmologia
|April 7, 2009
PubMed
Summary

Progressive vision loss in two patients was linked to retinal and choroidal atrophy, resembling Kearns-Sayre syndrome. Early etiological investigation is crucial for managing potential systemic complications.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Neurology

Background:

  • Progressive vision loss can stem from various retinal pathologies.
  • Kearns-Sayre syndrome is a rare mitochondrial disorder affecting multiple systems.

Observation:

  • Two patients presented with gradual visual acuity decline over 4 years and 8 months.
  • Fundoscopic examination revealed significant atrophy of the retina, retinal pigment epithelium, and choriocapillaris.

Findings:

  • The observed fundoscopic alterations are characteristic of certain mitochondrial disorders.
  • The clinical presentation strongly suggests a resemblance to Kearns-Sayre syndrome.

Implications:

  • Prompt etiological investigation is essential for accurate diagnosis.
  • Identifying Kearns-Sayre syndrome is critical due to potential severe systemic complications requiring specialized care.