Autosomal Dominant Optic Atrophy – ADOA
Autosomal Dominant Optic Atrophy (ADOA) is characterized by progressive bilateral blindness due to the loss of retinal ganglion cells and optic nerve deterioration. The severity of vision loss varies from nearly normal vision to complete blindness. The age of onset is usually between 4 and 6 years, but ADOA rarely causes severe vision impairment in childhood.
Genetic testing helps to confirm the diagnosis and provides supportive information for genetic counseling. The test is available both with genotyping service (includes genotyping, electronical copy of the results report) and diagnostic package service (includes DNA extraction, genotyping, additional validation of the APEX-based analysis findings by dideoxy sequencing, interpretation, hard copy of the results report).
The microarray was designed together with Dr. Marcela Votruba from Cardiff University, School of Optometry & Vision Sciences (UK).
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