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.
Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Genetic counseling
3. Prenatal diagnosis for known familial mutation