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Related Experiment Videos

Familial optic atrophy with white matter changes.

Chana Vinkler1, Dorit Lev, Hadas Kalish

  • 1Institute of Clinical Genetics, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel.

American Journal of Medical Genetics. Part A
|August 19, 2003
PubMed
Summary
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Two brothers experienced early-onset blindness due to optic atrophy and white matter changes. Investigations ruled out known metabolic disorders and Leber hereditary optic neuropathy (LHON), suggesting a potential new syndrome or atypical LHON.

Area of Science:

  • Neuro-ophthalmology
  • Genetics
  • Pediatric Neurology

Background:

  • Optic atrophy is a significant cause of vision loss in children.
  • Leber hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease typically causing vision loss in young adults.
  • Infantile onset optic atrophy can be associated with various genetic and metabolic conditions.

Observation:

  • Two brothers presented with infantile onset optic atrophy and blindness.
  • Brain MRI revealed periventricular white matter changes in both affected individuals.
  • Neurological and developmental examinations were normal in both patients.

Findings:

  • Extensive laboratory investigations excluded known metabolic disorders associated with optic atrophy.
  • Genetic testing did not identify mutations linked to Leber hereditary optic neuropathy (LHON).

Related Experiment Videos

  • Sequencing of mitochondrially encoded complex 1 subunits was normal, ruling out common LHON mtDNA mutations.

    • Implications:

    • The findings suggest a possible novel genetic syndrome causing infantile optic atrophy.
    • This family may represent an atypical presentation of LHON due to an undescribed mitochondrial DNA (mtDNA) mutation.
    • Further research is needed to identify the underlying genetic cause and understand the disease mechanism.