Genetic Testing for Eye Conditions

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

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

• Retinitis pigmentosa
• Stargardt disease
• Cone-rod dystrophy
• Many genes involved

Other Conditions

• Neurofibromatosis (NF1)—optic pathway gliomas
• Mitochondrial disorders

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