Autosomal Dominant Optic Atrophy (ADOA)

ADOA is an autosomally inherited disease that affects the optic nerves. It causes reduced visual acuity and is a contributing factor of blindness, vision loss or impairment, beginning in childhood. This condition is due to mitochondrial dysfunction mediating the death of optic nerve fibers. Dominant optic atrophy was first described clinically by Batten in 1896 and named Kjer’s optic neuropathy in 1959 after Danish ophthalmologist Poul Kjer, who studied 19 families with the disease.

Dominant Optic Atrophy is associated with mutation of the OPA1 genefound on chromosome 3, region q28-qter. Also, five other chromosomal genes are described as causing optic atrophy: OPA2 (x-linked), OPA3 (dominant), OPA4 (dominant), OPA5 (dominant), OPA6 (recessive), OPA7 & OPA8 (recessive)

In complicated cases of Autosomal Dominant Optic Atrophy, in addition to bilateral optic neuropathy, several other neurological signs of neurological involvement can be observed:peripheral neuropathy, deafness, cerebellar ataxia, spastic paraparesis and  myopathy.

Helpful ADOA Links

www.adoaa.org
http://www.ncbi.nlm.nih.gov/books/NBK1248/
http://brain.oxfordjournals.org/content/136/2/e231
http://stemcellstm.alphamedpress.org/content/3/4/424

UMDF ADOA AMBASSADOR

Lindsey Allen
lindsey.allen@adoaa.org

Click here to visit the ADOAA Website
Click here to visit the ADOAA Facebook Page

Lindsey’s daughter, Sofia, was diagnosed with ADOA at the age of 3. Today, at the age of 6, approximately 80% of her optic nerve has deteriorated due to this disease. In addition to Sofia, Lindsey and her husband Adam have another daughter, Mila.