Autosomal Dominant Optic Atrophy (ADOA)

Summary

Type of DNA affected

Nuclear DNA

Common genetic change

OPA1 gene changes

Typical age of onset

Childhood

Body area impacted

Vision (optic nerve)

Summary

Type of DNA affected
Nuclear DNA

Common genetic change
OPA1 gene changes

Age of onset
Childhood

Body area impacted
Vision (optic nerve)

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About ADOA

Autosomal dominant optic atrophy, commonly known as ADOA, is a rare inherited genetic condition. It can be passed from a parent to their child. ADOA is one of at least 350 known types of mitochondrial disease (mito).

Mito affects the mitochondria, which are tiny parts inside our cells that help make the energy our bodies need. When mitochondria do not work as they should, some parts of the body may not have enough energy to work properly. In ADOA, this mainly affects the optic nerves, which carry visual information from the eyes to the brain.

ADOA causes the optic nerves to gradually lose function over time. This leads to gradual vision loss, which usually cannot be restored.

The severity of vision loss can vary. Both eyes are usually affected in a similar way.¹

Some people have mild vision loss and can still see well enough to pass a driving test. Others develop severe vision loss that has a greater impact on daily life. Complete vision loss is rare.

Symptoms often begin in childhood, although experiences can differ, even among people in the same family. Vision loss can happen slowly, so some people may not notice changes straight away. ADOA can affect males and females.²

Autosomal dominant optic atrophy plus, also called ADOA plus, is a form of ADOA. As well as vision loss, people with ADOA plus may also have hearing loss, muscle pain, weakness or mobility issues.³

What does autosomal dominant optic atrophy mean?

Autosomal
Can affect people of any sex.

Dominant
One changed gene copy is enough.

Optic
Relates to the optic nerve.

Atrophy
The nerve becomes damaged over time.

Put together: an inherited condition that causes gradual damage to the optic nerve.

Curious about mito?

For more information visit our understanding mito page. You’ll find explanations about what mito is, its symptoms, its causes, and how it affects the body.

Pronunciation

Autosomal (Aw-toe-SOE-mal) Dominant (DOM-i-nant) Optic (OP-tik) Atrophy (AT-ruh-fee)

It is commonly abbreviated as A.D.O.A

Other names for ADOA

Mitochondrial optic neuropathy
Kjer’s optic neuropathy
Kjer’s type optic atrophy
Optic atrophy type 1
Dominant aptic atrophy (DOA)
Hereditary optic atrophy
Autosomal dominant optic atrophy plus (ADOA plus)

ADOA may also be referred to as:

Mitochondrial disease
Primary mitochondrial disease (PMD)

Hi. I'm Michael.

"Looking back, I wish I had acknowledged the impact of ADOA earlier rather than minimised it. Alongside practical support, therapy helped me manage stress, improve my quality of life and better understand my experiences."

Beyond the basics

Learn more and find support to help you navigate your journey with mito.

Milestones Prevalence Symptoms Causes Diagnosis Care team Health care Emerging therapies Clinical studies More to read Support groups

Milestones

1959: A clearer description of ADOA

Danish ophthalmologist Poul Kjer described 19 families with inherited vision loss.² His work helped clearly distinguish ADOA from Leber hereditary optic neuropathy (LHON). Before this, different inherited optic nerve conditions were often grouped together.⁴

People in these families had similar signs, including:

gradual loss of central vision
pale optic nerves
reduced colour vision.

This condition later became known as Kjer optic neuropathy.

2000s: Genetic discoveries

Researchers found that changes in a the OPA1 gene cause most cases of ADOA.⁵ This discovery changed how ADOA is diagnosed and understood.

They found that OPA1 is important for how mitochondria work, especially in the retinal ganglion cells, which form the optic nerve. These cells help carry visual information from the eye to the brain.

OPA1 gene changes are the most common genetic cause of ADOA. Further research has discovered more genes that can cause ADOA.⁶

2020s: The first clinical trials

In 2023, researchers began studying PYC-001, an experimental treatment for people with ADOA caused by changes in the OPA1 gene.

Early research has looked at whether PYC-001 may increase levels of healthy OPA1 protein levels in retinal ganglion cells. These cells help carry visual information from the eye to the brain and are affected in ADOA.⁷

In 2025, researchers also began studying STK-002, an experimental treatment for people with ADOA caused by changes in the OPA1 gene.

Early research is looking at whether STK-002 can help cells make more OPA1 protein from the healthy copy of the OPA1 gene.⁸

These studies are steps towards possible treatments that target the genetic cause of ADOA. As of June 2026, these therapies are still being studied in clinical trials. They are not approved treatments for ADOA.

Prevalence

ADOA is a rare type of mito. It affects about 1 in 30,000 people worldwide.^8-10 Because symptoms can be mild, some people may not know they have ADOA. Symptoms can also develop slowly, so changes may not be noticed straight away.

ADOA is more common in Denmark, where it affects around 1 in 10,000 people.⁹ This is thought to be because some people in Denmark share a distant ancestor who had a OPA1 gene change. Over time, this gene change has been passed down through families.

Symptoms

ADOA affects the optic nerves. These nerves carry visual information from the eyes to the brain. Symptoms can vary from person to person.

ADOA may first be noticed in different ways. Symptoms often begin in childhood, usually before age 10. A child may have trouble seeing the board at school, or changes may be found during a vision screening. Some people may not notice symptoms until later in life. A teenager or adult may have vision symptoms found in a driving vision test or an eye check. In some families, the condition is only identified after a child is diagnosed and other family members are checked.

People with ADOA may have:

reduced central vision
reduced colour vision (dyschromatopsia)
blind spots (scotomas)
blurred vision.

Vision loss can vary widely, even when people have the same genetic change. In an Australian study of families with OPA1 gene changes, some people had mild vision changes. Others had severe vision loss. The same gene change can affect people in different ways, even in the same family.

How vision changes over time can vary. In an Australian study of families with OPA1 gene changes, vision stayed about the same for about 6 in 10 people over about 10 years. Vision worsened for about 3 in 10 people and improved for about 1 in 10 people.

Some people living with ADOA have described uncertainty, anxiety, isolation, exhaustion and fatigue as part of the experience. These can happen alongside the practical challenges linked to vision loss.

Symptoms beyond vision: ADOA plus

Most people with ADOA experience vision problems only. However, up to 20% may develop additional symptoms affecting other parts of the body. This broader form of the condition is sometimes called ADOA plus.

ADOA plus may include:

Hearing loss (sensorineural hearing loss)

Hearing loss is thought to be the most common symptom beyond vision in ADOA plus.

Hearing loss usually affects both ears and gets worse over time. This happens because of damage to the inner ear and the nerve that sends sound to the brain. This type of hearing loss is permanent. Hearing aids or other devices, including cochlear implants, may support hearing for some people.

Balance and coordination (cerebellar ataxia)

Cerebellar ataxia means problems with balance and coordination. It can make movements feel unsteady and make it harder to judge distance or control how the body moves.

Stiffness and weakness in the legs (spastic paraparesis)

Spastic paraparesis means stiffness and weakness in both legs. This happens when the nerve pathways that help control movement are affected. It can make walking harder over time.

Muscle weakness (myopathy)

Myopathy is a general weakness of the muscles used for movement, particularly those in the shoulders and pelvis. This weakness may be especially noticeable during exercise.

Nerve symptoms (peripheral and sensory neuropathy)

Peripheral and sensory neuropathy means that some nerves do not send messages properly, which can affect how the body feels things like touch, pain, or temperature.

Droopy eyelid(s) (ptosis)

Ptosis occurs when the upper eyelids droop, making it difficult to see. For most people with ADOA, this affects both eyelids. People may need to use their forehead muscles to lift their eyelids or move their head to see.

Impaired eye movements (ophthalmoplegia)

Ophthalmoplegia is the weakness or problems with the muscles that move the eye. These muscles help the eyes look up, down and side to side. When they are not working as expected, a person may have trouble moving their eyes or may notice their eyes do not move together. They may need to turn their heads to see in different directions.

This section combines information from trusted sources.^11-16 The explanations have been adapted into plain language by Mito Foundation.

For more information

Understand the signs and symptoms of mito

Causes

ADOA is most often caused by OPA1 gene changes. OPA1 is also called optic atrophy 1. In people with ADOA, one copy of the OPA1 gene does not work properly, which can affect the optic nerve and lead to vision loss.

The OPA1 gene is found in the cell’s main DNA, known as nuclear DNA (nDNA). It is not found in the mitochondria’s own DNA (mtDNA).

OPA1 helps keep mitochondria healthy. It is especially important in retinal ganglion cells, which are cells in the back of the eye that help send visual information to the brain. These cells have high energy needs. This may help explain why ADOA mainly affects vision.

OPA1 helps mitochondria:

keep their shape and structure

make energy.

When there are OPA1 gene changes, mitochondria in the retinal ganglion cells may not make enough energy. Over time, the optic nerve begins to break down (atrophy). This leads to optic nerve damage and gradual vision loss.

There isn’t one single change in the OPA1 gene that causes ADOA. Instead, many different OPA1 gene changes can cause ADOA. The type of OPA1 gene change does not always predict how severe symptoms will be. People in the same family, with the same gene change, can have different levels of vision loss.

ADOA is sometimes described as having reduced penetrance, a term people may hear from a genetic counsellor, geneticist, or other specialist. This means some people with an OPA1 gene change may have very mild symptoms or no noticeable symptoms. Researchers are still studying why symptoms can be so different between people. Other genetic factors may be part of the reason.

Is it always OPA1?

OPA1 gene changes cause most cases of ADOA, but other genes can be involved.

Some of these genes help mitochondria join together, split apart, keep their shape, make energy, or remove damaged parts.

Inheritance

Everyone has two copies of the OPA1 gene, one inherited from each parent. These genes act like instructions that help the body work properly, including mitochondria, which help make energy for the cells.

ADOA is usually inherited in an autosomal dominant pattern.

People with ADOA have a change in one copy of their OPA1 gene. This means that one of the two copies of the gene does not work properly. When this happens, it can lead to changes in vision and symptoms of ADOA.

If a parent has ADOA

ADOA can be passed from a parent to their child through a change in the OPA1 gene. It does not matter whether the parent with ADOA is the mother or father. Either parent can pass on the changed gene. This can happen even if the parent has mild symptoms or no noticeable symptoms.

The image below shows how autosomal dominant inheritance can work when one parent has ADOA and one parent does not.

Autosomal dominant inheritance when one parent has ADOA and one parent does not

This image shows that each child has a 50% chance of inheriting the OPA1 gene change and a 50% chance of inheriting the working gene.

Each time a person with ADOA has a child, there are two possible outcomes:

There is a 50% chance the child inherits the OPA1 gene change. This increases their chance of developing ADOA.
There is a 50% chance the child inherits the working OPA1 gene and does not inherit that OPA1 gene change.

Each child has the same 50% chance. This chance does not change based on what happened in earlier pregnancies. If a child inherits the OPA1 gene change, their symptoms may be milder or more severe than their parent’s symptoms.

New gene changes (de novo)

Sometimes a gene change happens for the first time in a person. This is called a de novo gene change. De novo means new. These changes usually occur during the formation of a mother's egg cells or in the early development of the embryo.

This means the person did not inherit the gene change from a parent. ADOA can happen this way, but it is less common than inherited ADOA.²⁰ If the person has children, the changed gene may then be passed on in an autosomal dominant pattern.

Why males and females are equally affected

Males and females are equally affected because the OPA1 gene is not located on a sex chromosome. Instead, it is found on Chromosome 3, which is present in all people. This means males and females have the same chance of inheriting an OPA1 gene change.

People with no noticeable symptoms

Some people have an OPA1 gene change but do not have noticeable symptoms of ADOA. This is sometimes described as being a genetic carrier.

Some people with the OPA1 gene change may have normal vision. But they can still pass it on to their children.

Genetic testing may help show whether someone has inherited an OPA1 gene change. It may also identify other family members who have the same gene change who may benefit from regular eye checks to monitor their vision.

Some people choose to explore genetic testing and speak with a genetic counsellor to learn more. They can provide support and explain what these options involve, as well as what the results may mean for them and their family.

Understanding family planning options

Some people with ADOA, or with a family history of ADOA, may choose to learn more about the chance of passing on a genetic change. This can help them make informed decisions about family planning.

A parent with mild ADOA can have a child with more severe ADOA. This can happen even when they have the same gene change.

ADOA is usually linked to a change in nuclear DNA. For autosomal dominant nuclear DNA changes, each child has a 50% chance of inheriting the changed gene.

Some people may choose to explore family planning options with support from a genetic counsellor. This can help them understand their genetic information, the chance of passing on a gene change, and the reproductive options that may be available to them. These decisions are personal and may depend on individual values, circumstances, and preferences. Genetic counselling can help people make informed decisions that feel right for them.

Options may include IVF with pre-implantation genetic testing, natural conception with prenatal diagnosis, natural conception without intervention, egg, sperm or embryo donation, or adoption.

Genetic counselling can help people understand what these options may mean for their family. Visit the Mito Foundation Options for building your family resource for more information.

For more information

Learn more about genetics and mito

Information to understand your diagnosis

Information to understand your child’s diagnosis

Diagnosis

ADOA is usually diagnosed in childhood, but some people are not diagnosed until adulthood.

Sometimes, a person is diagnosed after another family member is found to have ADOA. ADOA can sometimes be mistaken for other optic nerve conditions, such as normal tension glaucoma. It can also be difficult to tell apart from some other inherited optic nerve conditions, such as Leber hereditary optic neuropathy.

An eye specialist may diagnose ADOA by looking at:

family history
symptoms
eye test results
genetic test results.

Genetic testing can help confirm a diagnosis. It may also help show whether other family members have inherited the same gene change.

Clinical findings and tests

An eye specialist may check vision and eye health using different tests. Sometimes, signs of optic nerve atrophy are first found during an optometry appointment, before a person notices major changes in vision.

Tests may include:

Visual acuity test: reading letters on a chart to check how clearly a person can see.
Colour vision test: checking how a person sees different colours.
Visual field test: checking side vision, also called peripheral vision.
Pupil response check: checking how the pupils respond to light.
Optic nerve check: looking for changes or damage in the optic nerve.
Optical coherence tomography (OCT): taking detailed pictures of the back of the eye. OCT can help show thinning or atrophy of the optic nerve.
Electroretinography (ERG): measuring how the retina responds to light.
Hearing tests: checking hearing if ADOA plus is suspected.

Other tests may be used if ADOA plus is suspected.

Looking for other causes

Some optic nerve conditions can look similar to ADOA. A health professional may arrange other tests to look for other causes of optic nerve changes.

These may include MRI scans or blood tests. MRI scans may look for anything putting pressure on, or causing changes in, the optic nerves. Blood tests may look for causes such as nutritional deficiencies, including B vitamin deficiencies, infection or inflammation.

Family history

A health professional may ask about family history of vision loss. This can help show whether there may be a genetic cause.

Genetic testing

If ADOA is a suspected cause of vision loss, a health professional may arrange genetic testing. This uses a blood or saliva sample to look for OPA1 and other optic atrophy gene changes. Genetic testing may be considered when other causes have not been found, especially if there is a family history of optic nerve disease.

Genetic testing is highly specialised, and it may take 3 months or more to receive the results. In some cases, the results may not give a clear answer, meaning a gene change may not be found or its significance may not be fully understood.

Genetic counsellors can support people and families with genetic testing. They can help explain results and what they may mean for the person and their family.

This section combines information from trusted sources.^21–23

For more information

Learn more about genetics and mito

Care team

People with ADOA may have a team of health professionals involved in their care and support. This may include:

General Practitioner (GP): main point of contact. They can help with referrals and tests and coordinate care.
Optometrist: checks vision and eye health. An optometrist may notice optic nerve changes and refer to an eye specialist.
Ophthalmologist: specialises in eye health and can monitor changes in vision
Neuro-ophthalmologist: specialises in vision health related to the nervous system.
Low vision specialist or orthoptist: assesses vision and may suggest visual aids or supports.
Audiologist: assesses hearing and balance problems. Can recommend hearing aids or other devices.
Genetic counsellor: provides education and support for people with genetic health conditions.
Occupational therapist: assists with daily living activities and improving quality of life.
Mental health professional: offers mental health and wellbeing support. This may include support with uncertainty, anxiety, isolation or changes in daily life.

For more information

Information to build your care team

Information to build your child’s care team

Health care

There is currently no cure or established treatment for ADOA.

Some people living with ADOA or ADOA plus may need support with day-to-day symptoms over time. The type of support needed can vary from person to person.

For people living with ADOA plus, symptom management may involve different health professionals, depending on the person’s symptoms and needs.

Some people may wish to discuss day-to-day symptom management with a health professional or care team. This might include support with:

fatigue and energy levels, including strategies for managing fatigue

mobility or balance

work adjustments and employee rights

school adjustments and support with managing mito at school

mental health and wellbeing

equipment, technology or other practical supports, including supports outside the NDIS.

Living with changes in vision can be challenging, and some people may find it helpful to seek counselling or mental health support. Support is available to help people adjust over time, cope with these changes, and maintain wellbeing.

Glasses do not usually restore vision loss caused by ADOA. This is because ADOA affects the optic nerve, not just the eye’s ability to focus. However, regular eye care is still important to make sure a person has the right glasses, technology or other vision supports to help them make the best use of their remaining vision.

Eye care (Ophthalmology)

An eye care specialist, called an ophthalmologist, can help monitor vision changes and overall eye health. After diagnosis, eye care may also include checking for and managing other eye problems, such as glaucoma.

Eye care may include regular checks such as:

visual acuity tests
colour vision tests
visual field tests
optical coherence tomography (OCT).

Ongoing monitoring

Ongoing monitoring can be discussed with an ophthalmologist. They may suggest regular visits or visits when needed. These visits may involve:

checking for changes in vision
assessing the health of the retina
evaluating the health of the optic nerve.

A health professional may also check for other factors that can affect the optic nerve, such as nutritional deficiencies. This may include checking for B vitamin deficiencies.²³

Reducing extra risks to the optic nerve

ADOA is caused by genetic changes, most often in the OPA1 gene. These gene changes cannot be changed by lifestyle.

However, some things may place extra stress on the optic nerve or mitochondria. People with ADOA may be advised to avoid smoking and heavy alcohol use. They may also be advised to avoid medicines that can interfere with mitochondrial metabolism.¹⁵

Do not stop or change any prescribed medicine without speaking with a doctor. If you have ADOA, or a family history of ADOA, you may wish to let your GP, ophthalmologist and pharmacist know. This can help them consider whether any medicines need extra care or monitoring.

For more information

Access the Patient Care Standards for Mito

Emerging therapies

Some possible treatments are being studied. This includes Idebenone, a supplement that has been studied in ADOA. The evidence is still limited, and more research is needed to understand whether it may help people with ADOA.

Some clinical trials for ADOA involve treatment given as an injection into the eye. For example, PYC-001 is an experimental treatment for ADOA to support the optic nerve and slow vision loss. It is still being tested in clinical trials and is not yet an approved treatment or available in routine care.

Research is also looking at why symptoms can be mild in some family members and more severe in others. This may be due to genetic factors, and other influences that affect how the OPA1 gene works in the body. Understanding these differences may help researchers better predict how ADOA affects different people. It may also help guide future diagnosis, treatment and family planning.

Some information online about optic nerve regeneration therapies or stem cells may not reflect treatments that are currently in mainstream clinical testing in people.

Clinical studies

Mito Foundation provides information to help people affected by mito understand clinical trials and how to find opportunities that may be relevant to them.

Clinical trials help researchers test new ways to prevent, diagnose, treat and manage mito. Some trials test whether a treatment is safe and whether it may help people.

Other clinical studies may look at symptoms, diagnosis, genetics, quality of life, or how mito affects people over time.

Clinical trials are carefully planned. The therapies being studied may be at different stages. Trials may not be available for every type of mito, and not every trial will be right for you. Some trials are only open to people with a confirmed genetic diagnosis, specific symptoms, a certain age range, or the ability to attend study appointments.

Mito Foundation’s emerging therapies information explains therapies in development, how clinical trials work, and what you may wish to consider before taking part. You can also use the Therapy Finder to explore therapies in development and see what may be relevant to you.

Learn more about taking part in clinical trials
Use the Therapy Finder

Staying informed

One way to hear about opportunities to take part in clinical trials is to join the Mito Registry.

The Mito Registry helps connect people with research opportunities that may be relevant to them. It also helps Mito Foundation understand how many people in Australia are affected by different types of mito.

This information can help support future research, services and advocacy.

Join the Mito Registry

More to read

Support groups

Watch, listen or read a summary of the Understanding Autosomal Dominant Optic Atropy webinar.

Understanding Autosomal Dominant Optic Atrophy

Video

This webinar focused on Autosomal Dominant Optic Atrophy (ADOA), a genetic condition that affects the optic nerve and is a form of mitochondrial disease.

The session explores how ADOA affects vision, how it is diagnosed, the genetics behind the condition, and current research aimed at improving understanding of the disease.

The webinar is hosted by Clare Stuart, Advocacy and Engagement Manager at the Mito Foundation.

This webinar featured speakers including Prof Clare Fraser from the University of Sydney’s Save Sight Institute, Prof David Mackey from the Lions Eye Institute, and A/Prof Owen Siggs from the Garvan Institute of Medical Research.

Note: A segment sharing personal lived experience with ADOA has been removed from this recording.

This event was recorded on 23 February 2026. It is available to watch, listen or read about.

Mito Foundation support services

Helpline

Call Helpine for general advice, assistance in seeking a referral or more information on Mito Foundation support services.

Contact Helpline

Events

Mito Foundation events bring together people impacted by mitochondrial disease (mito).

Learn more about events

NDIS support

Access the NDIS Navigation Service (NNS) for resources, education and 1:1 guidance on the NDIS.

Learn more about NNS

References

Eckmann‐Hansen C, Bek T, Sander B, Larsen M. Vision‐related quality of life and visual ability in patients with autosomal dominant optic atrophy. Acta Ophthalmol (Copenh). 2022 Nov;100(7):797–804. doi:10.1111/aos.15102 PubMed PMID: 35146926; PubMed Central PMCID: PMC9790332.
Kjer P. Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families. Acta Ophthalmol Suppl. 1959;164(Supp 54):1–147. PubMed PMID: 13660776.
autosomal dominant optic atrophy plus syndrome - National Organization for Rare Disorders [Internet]. [cited 2026 Mar 12]. Available from: https://rarediseases.org/mondo-disease/autosomal-dominant-optic-atrophy-plus-syndrome/
Bell J. Hereditary optic atrophy (Leber’s disease). In: The Treasury of Human Inheritance. Volume II: Anomalies and Diseases of the Eye. Nettleship Memorial Volume. Part IV. Cambridge: Cambridge University Press; 1931. p. 325–50. (Eugenics Laboratory Memoirs; XXVI).
5. Alexander C, Votruba M, Pesch UE, Thiselton DL, Mayer S, Moore A, et al. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet. 2000 Oct;26(2):211–5. doi:10.1038/79944 PubMed PMID: 11017080.
Weisschuh N, Schimpf-Linzenbold S, Mazzola P, Kieninger S, Xiao T, Kellner U, et al. Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants. PloS One. 2021;16(7):e0253987. doi:10.1371/journal.pone.0253987 PubMed PMID: 34242285; PubMed Central PMCID: PMC8270428.
Autosomal Dominant Optic Atrophy. PYC Therapeutics [Internet]. [cited 2026 Mar 13]. Available from: https://pyctx.com/autosomal-dominant-optic-atrophy/
Orphanet: Autosomal dominant optic atrophy, classic form [Internet]. 2026 [cited 2026 Mar 13]. Available from: https://www.orpha.net/en/disease/detail/98673
Autosomal dominant optic atrophy and cataract: MedlinePlus Genetics [Internet]. [cited 2026 Mar 12]. Available from: https://medlineplus.gov/genetics/condition/autosomal-dominant-optic-atrophy-and-cataract/
Le Roux B, Lenaers G, Zanlonghi X, Amati-Bonneau P, Chabrun F, Foulonneau T, et al. OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database. Orphanet J Rare Dis. 2019 Sep 10;14(1):214. doi:10.1186/s13023-019-1187-1
Cohn AC, Toomes C, Potter C, Towns KV, Hewitt AW, Inglehearn CF, et al. Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations. Am J Ophthalmol. 2007 Apr;143(4):656–62. doi:10.1016/j.ajo.2006.12.038 PubMed PMID: 17306754.
Cohn AC, Toomes C, Hewitt AW, Kearns LS, Inglehearn CF, Craig JE, et al. The natural history of OPA1-related autosomal dominant optic atrophy. Br J Ophthalmol. 2008 Oct 1;92(10):1333–6. doi:10.1136/bjo.2007.134726 PubMed PMID: 18653586.
Yu-Wai-Man P, Griffiths PG, Gorman GS, Lourenco CM, Wright AF, Auer-Grumbach M, et al. Multi-system neurological disease is common in patients with OPA1 mutations. Brain J Neurol. 2010 Mar;133(Pt 3):771–86. doi:10.1093/brain/awq007 PubMed PMID: 20157015; PubMed Central PMCID: PMC2842512.
Autosomal dominant optic atrophy plus syndrome | About the Disease | GARD [Internet]. [cited 2026 Mar 12]. Available from: https://rarediseases.info.nih.gov/diseases/5243/autosomal-dominant-optic-atrophy-plus-syndrome
15. Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, et al. Dominant optic atrophy. Orphanet J Rare Dis. 2012 Jul 9;7:46. doi:10.1186/1750-1172-7-46 PubMed PMID: 22776096; PubMed Central PMCID: PMC35265
Brennan D, Langan Y, Redmond J. 062 A case of autosomal dominant optic atrophy plus syndrome. J Neurol Neurosurg Psychiatry. 2022 Jun 1;93(6):A120–A120. doi:10.1136/jnnp-2022-ABN.387
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Orphanet: Autosomal dominant optic atrophy, classic form [Internet]. [cited 2026 Mar 13]. Available from: https://www.orpha.net/en/disease/detail/98673
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Disclaimer: Resources provided by the Australian Mitochondrial Disease Foundation Limited (Mito Foundation), offers general information and is not a substitute for medical advice. It is essential to assess the suitability of the content for your individual circumstances and make decisions based on your medical condition. The information’s accuracy is subject to change, and we do not guarantee ongoing currency or availability. While efforts are made to ensure accuracy, Mito Foundation is not obligated to provide updated information. The copyright for this document and its content belongs to, or is licensed to, Mito Foundation, and reproduction without prior written consent is prohibited.

Acknowledgement: Mito Foundation acknowledges the valuable contributions of our reviewers. We thank Professor David Mackey AO, MD, FRANZCO, Professor Clare Fraser, MBBS (Hons), MMed, FRANZCO, Associate Professor Owen Siggs, MD, DPhil, PhD, and Lisa Kearns, Research Orthoptist and Associate Genetic Counsellor for their review. Mito Foundation also recognises input from members of the Mito Community impacted by ADOA.

Author: Mito Foundation
Version: 1
Date published: Wednesday 22 July 2026

What is ADOA? Causes, symptoms and support

Summary

Type of DNA affected

Common genetic change

Typical age of onset

Body area impacted

Summary

Prefer to listen?

About ADOA

What does autosomal dominant optic atrophy mean?

Curious about mito?

Pronunciation

Other names for ADOA

Hi. I'm Michael.

Beyond the basics

Watch, listen or read a summary of the Understanding Autosomal Dominant Optic Atropy webinar.

Understanding Autosomal Dominant Optic Atrophy

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