Does ADOA Cause Hearing Loss? ADOA Plus Explained
At a Glance
About 20% to 30% of patients with Autosomal Dominant Optic Atrophy (ADOA) develop ADOA Plus syndrome, which frequently causes gradual sensorineural hearing loss. A baseline hearing test is highly recommended so your care team can monitor and treat any future hearing changes.
Learning that an eye condition could potentially affect your hearing or other parts of your body can feel overwhelming. If your eye doctor recently told you to get a hearing test after being diagnosed with Autosomal Dominant Optic Atrophy (ADOA), it is completely normal to feel confused or anxious. The test is a proactive measure to check for systemic (body-wide) symptoms. While ADOA primarily affects the optic nerve, approximately 20% to 30% of patients develop a more complex form known as ADOA Plus syndrome [1][2].
What is ADOA Plus Syndrome?
The majority of ADOA cases are caused by mutations in the OPA1 gene [3][4]. This gene is essential for maintaining the health of mitochondria, which act as the energy-producing centers of your cells [3]. When mitochondria cannot produce enough energy, it primarily damages the retinal ganglion cells in the eye, leading to vision loss [5]. However, in some cases, this mitochondrial dysfunction also affects other tissues in the body that require high amounts of energy [6].
ADOA Plus syndrome is the term used when these additional symptoms occur alongside optic atrophy [7][1].
Understanding Hearing Loss in ADOA Plus
The most frequent extraocular (non-eye-related) symptom of ADOA Plus is sensorineural hearing loss [1][8]. This type of hearing loss happens when there is damage to the inner ear or the auditory pathways that connect the ear to the brain [9]. In ADOA Plus, the same lack of energy that damages the optic nerve can also damage these auditory pathways, making it difficult to process sound [9][1].
Hearing loss is often the very first “Plus” symptom to appear [1]. Like the vision loss in ADOA, the decline in hearing is usually gradual [6].
Other Potential (and Less Common) Symptoms
Hearing loss is the most common additional symptom, but some patients may eventually develop other neurological issues. These symptoms are generally less common and, if they do occur, tend to develop later in life [1][7]. They can include:
- Weakness or paralysis of the eye muscles (progressive external ophthalmoplegia) [7]
- Muscle weakness (myopathy) [2]
- Coordination and balance issues (ataxia) [10]
- Numbness or tingling in the hands and feet (peripheral neuropathy) [10]
- Severe headaches or migraines [11]
It is important to know that having ADOA does not mean you will definitely develop these severe symptoms. However, knowing about them allows you and your doctor to monitor your health proactively.
Why You Need a Baseline Hearing Test
Because hearing loss is the most frequent “Plus” symptom, experts recommend that patients with ADOA undergo a baseline audiometry test (a formal hearing test) [1]. This gives your medical team a starting point.
If your baseline test is completely normal, that is great news! However, because hearing loss can develop later in life, a normal baseline does not guarantee you will never develop hearing issues [9][7]. Instead, it provides a crucial comparison point for future tests. If your doctors eventually notice a decline, they can promptly introduce interventions like hearing aids to help preserve your quality of life [9][1].
When you go to your audiologist, be sure to explicitly mention your ADOA diagnosis. Many hearing specialists may be unfamiliar with this rare systemic link, and providing this context helps them understand exactly what to look for [1]. Discuss with your care team how often you should repeat this test—whether that is annually or only if you notice changes in your hearing.
Common questions in this guide
What is ADOA Plus syndrome?
Why do I need a hearing test if I have been diagnosed with ADOA?
What are the early signs of hearing loss in ADOA Plus?
What other symptoms are associated with ADOA Plus syndrome?
Questions to Ask Your Doctor
Curated prompts to bring to your next appointment.
- 1.Given my specific genetic mutation, what is my estimated risk for developing ADOA Plus syndrome?
- 2.How often should I have follow-up hearing tests after my baseline is established?
- 3.Are there subtle signs of hearing loss or other systemic symptoms I should be watching for at home?
- 4.Should I be referred to a neurologist or genetic counselor to monitor for other potential 'Plus' symptoms?
Questions For You
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Related questions
References
References (11)
- 1
Autosomal dominant optic atrophy plus due to the novel OPA1 variant c.1463G>C.
Finsterer J, Laccone F
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PMID: 31152339 - 2
OPA1 mutation affects autophagy and triggers senescence in autosomal dominant optic atrophy plus fibroblasts.
Zanfardino P, Amati A, Doccini S, et al.
Human molecular genetics 2024; (33(9)):768-786 doi:10.1093/hmg/ddae008.
PMID: 38280232 - 3
Dominant Optic Atrophy (DOA): Modeling the Kaleidoscopic Roles of OPA1 in Mitochondrial Homeostasis.
Del Dotto V, Carelli V
Frontiers in neurology 2021; (12()):681326 doi:10.3389/fneur.2021.681326.
PMID: 34177786 - 4
Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.
Weisschuh N, Schimpf-Linzenbold S, Mazzola P, et al.
PloS one 2021; (16(7)):e0253987 doi:10.1371/journal.pone.0253987.
PMID: 34242285 - 5
Mitochondrial dysfunction in an Opa1(Q285STOP) mouse model of dominant optic atrophy results from Opa1 haploinsufficiency.
Kushnareva Y, Seong Y, Andreyev AY, et al.
Cell death & disease 2016; (7()):e2309 doi:10.1038/cddis.2016.160.
PMID: 27468686 - 6
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Loo JL, Singhal S, Rukmini AV, et al.
Eye (London, England) 2017; (31(3)):475-480 doi:10.1038/eye.2016.255.
PMID: 27858935 - 7
Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy.
Ham M, Han J, Osann K, et al.
Mitochondrion 2019; (46()):262-269 doi:10.1016/j.mito.2018.07.006.
PMID: 30165240 - 8
Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy.
Horga A, Bugiardini E, Manole A, et al.
Neurology. Genetics 2019; (5(2)):e322 doi:10.1212/NXG.0000000000000322.
PMID: 31119193 - 9
Molecular Impairment Mechanisms of Novel OPA1 Mutations Predicted by Molecular Modeling in Patients With Autosomal Dominant Optic Atrophy and Auditory Neuropathy Spectrum Disorder.
Namba K, Mutai H, Takiguchi Y, et al.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2016; (37(4)):394-402 doi:10.1097/MAO.0000000000000978.
PMID: 26905822 - 10
Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort.
Maeda-Katahira A, Nakamura N, Hayashi T, et al.
Molecular vision 2019; (25()):559-573.
PMID: 31673222 - 11
Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation.
Magri S, Fracasso V, Plumari M, et al.
Human mutation 2018; (39(12)):2060-2071 doi:10.1002/humu.23658.
PMID: 30252181
This information about ADOA Plus syndrome and hearing loss is for educational purposes only and does not replace professional medical advice. Always consult your ophthalmologist or audiologist about your specific symptoms and testing needs.
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