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Hashemi Eye Care - Neuroscience Institute and Research Center

Genetic Testing for Eye Conditions

DNA testing to diagnose inherited conditions affecting vision, including LHON and dominant optic atrophy.

2 min read

Genetic testing analyzes DNA to identify mutations that cause inherited eye conditions. It can confirm diagnoses, guide treatment, and inform family counseling.

Key Takeaways

  • Confirms inherited conditions like LHON and DOA
  • Blood or saliva sample required
  • Results may take weeks
  • Important for family counseling
  • Guides treatment for some conditions

Conditions Diagnosed by Genetic Testing

Leber Hereditary Optic Neuropathy (LHON)

  • Mitochondrial DNA mutations
  • Three common mutations cover ~95% of cases
  • Blood test
  • Important for treatment decisions (idebenone)

Dominant Optic Atrophy (DOA)

  • OPA1 gene mutations most common
  • Autosomal dominant inheritance
  • Important for family screening

Retinal Dystrophies

Other Conditions

What to Expect

Sample Collection

  • Blood draw (most common)
  • Saliva sample (some tests)
  • Cheek swab

Timeline

  • Results typically 2-6 weeks
  • Complex panels may take longer

Counseling

  • Pre-test counseling explains implications
  • Post-test counseling interprets results
  • Genetic counselor involvement helpful

Implications of Results

Positive Result

  • Confirms diagnosis
  • Guides treatment if available
  • Family members may be tested
  • Reproductive counseling available

Negative Result

  • Doesn't always rule out genetic cause
  • Some mutations not yet discovered
  • Clinical diagnosis still valid

Considerations

  • Insurance implications
  • Privacy concerns
  • Family member implications
  • Emotional impact
  • Discuss with genetic counselor
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