Skip to content

Aco2 Related Optic Atrophy With Or Without Extraocular Features Cn380034

Published: July 22, 2026Updated: August 20, 2026

A rare genetic disorder affecting the optic nerve, potentially causing vision loss. It results from mutations in the ACO2 gene. Management focuses on supportive care and addressing associated symptoms.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 20, 2026Editorial policy

Key facts at a glance

ICD-10
Q15.9
ICD-11
LA00.0
Body system
ophthalmologic
Severity
moderate
Chronic
true

Signs and symptoms

Common signs and symptoms that may indicate this condition.

Generalized symptoms

(ophthalmologic)

Noticeable symptoms that may vary in intensity over time.

Frequency: Common at all stages

Reduced visual acuity

(ophthalmologic)

Optic disc pallor

(ophthalmologic)

Color vision deficits

(ophthalmologic)

Nystagmus

(ophthalmologic)

Diagnosis and tests

How this condition is diagnosed and what test results mean.

Initial screening tests

1

Standard diagnostic workup

Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]

Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]

Treatment options

Evidence-based approaches to managing this condition.

First-line treatments

1

Dietary counseling and physical activity plan

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
2

Regular Ophthalmologic Monitoring

Comprehensive eye examinations at regular intervals to monitor visual function, document progression, and detect any treatable complications. Includes visual acuity testing and fundoscopic examination.

monitoring
3

Low Vision Aid Assessment

Referral to low vision specialists for evaluation and provision of visual aids such as magnifiers, specialized lighting, and adaptive technologies to maximize remaining visual function.

procedure

Additional treatment options

Genetic Counseling

Specialized genetic counseling for patients and families to understand inheritance patterns, recurrence risks, and available testing options for family planning purposes.

complementary

Motor Function Support

Physical therapy interventions for patients with extraocular motor symptoms, focusing on coordination, strength, and functional mobility. Treatment tailored to individual deficits.

physical_therapy

Psychosocial Support Services

Counseling and support services to address the emotional and psychological impact of visual impairment and any associated features. Includes coping strategies and community resources.

psychological

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is Aco2 Related Optic Atrophy With Or Without Extraocular Features Cn380034?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Mayers JK, Hoffman RP, Chen LX. Mitochondrial dysfunction in inherited optic neuropathies: focus on ACO2-related disorders. Curr Opin Neurol. 2022.

review2022
2

European Reference Network for Rare Eye Diseases. Clinical management guidelines for ACO2-related optic atrophy. Orphanet J Rare Dis. 2021.

guideline2021
3

Thompson BA, Santos-Fernandez DA, Okamoto H. Genotype-phenotype correlations in ACO2 mutation carriers: a prospective cohort study. Ophthalmology. 2020.

clinical_trial2020
4

Patel N, Mitchell LK, Fujikawa K. Neuroimaging findings in inherited optic atrophy disorders: systematic review and meta-analysis. Surv Ophthalmol. 2023.

meta_analysis2023

Medication Comparisons

Compare medications used to treat Aco2 Related Optic Atrophy With Or Without Extraocular Features Cn380034. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy