Many different mutations in the OPA1 gene have been identified. Mine is as follows:
DNA Variant: c.2873_2876delTTAG
Nucleotide Position: 2708_2711
Codon: 903_904
Amino Acid Change: Frame Shift
A simple blood test is performed and sent to a laboratory that offers clinical testing for Kjer Type Optic Atrophy. Genetic testing is often quite expensive. A free test may be available to you and your family members through EyeGene, a NIH sponsored program. The test is free, but you have to find an EyeGene registered physician in your area, and you have to pay for the blood draw and shipping.
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