Retinalis idegrostréteg és látásfunkciók az mtDNS common deléciója által okozott progresszív ophthalmoplegia externa esetében

Translated title of the contribution: Retinal ganglion cell layer and visual function in parents with progressive external opthalmoplegia caused by common mtDNA deletion

Farzaneh Naghizadeh, Edina Tímea Varga, María Judit Molnár, Gábor Holló

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Aim - Mitochondrial (mt) disorders are metabolic conditions with multiorgan involvement, which often cause neuroophtalmological symptoms. The aim of the study was to investigate the relation between progressive external ophthalmoplegia (PEO), visual pathway and mitochondrial DNA (mtDNA) mutations in patients younger than 55 years of age.

Methods - Rve female patients (35 to 53 years of age) with mithochondrial disease were investigated. Automated threshold perimetry (Octopus G2 test), scanning laser polarimetry (GDx-VCC and GDx-ECC) and Fourier-domain optical coherence tomography (RTVue-100 OCT) were used in addition to detailed ophthalmological examination and evaluation of visually evoked potentials (VEP). Frequent mutations of the mtDNA were investigated in the patients' blood and muscle samples.

Results - PEO of various severity levels was found in all patients, using clinical tests. Genetic testing showed "common deletion" of mtDNA in all cases. For both eyes of 4 patients functional and structural ophthalmic tests had normal results. In one patient decreased visual acuity, reduced retinal nerve fiber layer thickness and prolonged L3 VEP latency time were found without optic disc damage and visual field deterioration.

Conclusion - In 4 of our 5 patients with PEO due to common deletion of mtDNA retinal ganglion cells and visual function remained normal for a long period of life.

Original languageCzech
Pages (from-to)335-341
Number of pages7
JournalIdeggyogyaszati szemle
Volume67
Issue number9-10
Publication statusPublished - Sep 30 2014

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Keywords

  • Common deletion of mitochondrial DNA (mtDNA)
  • Fourier-domain optical coherence tomography
  • Progressive external ophthalmoplegia (PEO)
  • Scanning laser polarimetry

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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