General Info
Overview
Autosomal Dominant Optic Atrophy is a neuro-ophthalmic condition that tends to begin in the first ten years of life and is characterized by degeneration of the optic nerves, causing visual loss. The severity of the disease is highly variable, with the visual acuity ranging from normal to legal blindness. About 20% of DOA patients present with additional multi-systemic features, including neurosensory hearing loss, or less common chronic progressive external ophthalmoplegia, myopathy, peripheral neuropathy, multiple sclerosis-like illnesses, spastic paraplegia, or cataracts.
Alternative Names
- ADOA
Frequency
Affected Biological Gender
Male
Diagnosis
Newborn Screening: Recommended Uniform Screening Panel (RUSP)
Yes
Clinical Trials
For specific details on clinical trials visit the MitoAction Clinical Trial page or www.clinicaltrials.gov.
Resources
Connecting with others impacted by a rare disease allows for vital information to be shared about day-to-day life, prevents isolation, and gives hope. Please contact MitoAction for peer support opportunities at 888-MITO-411 or email mito411@mitoaction.org.
Other resources we recommend are:
- New Patient Kit for Mitochondrial Conditions
- Planning for Emergencies
- Monthly Expert Series
- Energy in Action Podcast
MitoAction does not provide medical advice, diagnosis, treatment, or legal advice. It is essential that all those living with or caring for someone with a Mitochondrial or FAOD disease have an emergency protocol letter. These letters, which are written and signed by a doctor, share details about prescribed treatment during crises and in emergency room settings. Always check with your doctor if you or your child has concerns as everyone may present with symptoms differently. Before beginning any treatment or therapy, please consult with your physician.
Last Updated: 11/15/2022
