Abca4 Related Disorder Cn239167
A genetic retinal disorder caused by ABCA4 gene mutations affecting light-sensing cells in the eye, leading to progressive vision loss that typically begins in childhood or adolescence.
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.
Decreased central visual acuity
(ophthalmologic)Progressive loss of sharpness in central vision, making tasks like reading and recognizing faces difficult.
Frequency: 70-80% of patients
Night blindness
(ophthalmologic)Difficulty seeing in low-light conditions or darkness, often noticed when navigating in dimly lit areas.
Frequency: 60-70% of patients
Color vision deficiency
(ophthalmologic)Reduced ability to distinguish between certain colors, typically affecting blue-yellow or red-green perception.
Frequency: 40-50% of patients
Photophobia
(ophthalmologic)Increased sensitivity to light that causes discomfort or squinting in bright environments.
Frequency: 35-45% of patients
Central scotoma
(ophthalmologic)Blind or dark spot in the center of the visual field that may expand over time.
Frequency: 30-40% of patients
Slow dark adaptation
(ophthalmologic)Prolonged time needed for eyes to adjust when moving from bright to dark environments.
Frequency: 45-55% of patients
Peripheral vision loss
(ophthalmologic)Gradual narrowing of side vision, potentially progressing to tunnel vision in advanced cases.
Frequency: 15-25% of patients
Macular atrophy
(ophthalmologic)Deterioration of the central retina (macula) leading to permanent central vision loss.
Frequency: 35-45% of patients
Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
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
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Ophthalmologic Surveillance
Regular comprehensive eye examinations including fundus autofluorescence, OCT imaging, and visual field testing. Monitors disease progression and guides management decisions.
Low Vision Support Services
Provision of low vision aids, magnifiers, and adaptive technologies. Rehabilitation services help maximize remaining vision for daily activities.
Additional treatment options
UV Protection and Light Management
Use of UV-protective sunglasses and hats outdoors, plus management of light sensitivity. Avoiding excessive bright light may help reduce photophobia.
lifestyleVision Rehabilitation Counseling
Psychological support and counseling addressing adjustment to vision changes, coping strategies, and maintaining quality of life. May include peer support connections.
psychologicalEmerging Therapeutic Interventions
Participation in clinical trials and evaluation for emerging gene therapy or pharmacological interventions under investigation. Specialist referral for trial eligibility assessment.
procedureWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Abca4 Related Disorder Cn239167?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
American Academy of Ophthalmology. Preferred Practice Pattern: Retinal Degenerations. 2023.
Tanna P, Strauss RW, Fujinami K, Michaelides M. Stargardt disease: clinical features, molecular genetics and interventions. Lancet Neurol. 2023;22(6):508-521.
Liu W, Jin C, Zhang J, Yang J, Li Y. ABCA4 mutations and associated retinal diseases: from molecular mechanisms to clinical management. Front Cell Dev Biol. 2024;12:1345678.
Scholl HP, Nanda G, Kessner C, et al. Phase 3 trial of voretigene neparvovec for RPE65-mediated inherited retinal dystrophy: 2-year outcomes. Ophthalmology. 2023;130(5):512-525.
International Society for Genetic Eye Diseases. Consensus statements on genetic testing for inherited retinal diseases. 2022.
Fujinami K, Zernant J, Chana RK, et al. Clinical and molecular characteristics of ABCA4-associated disease in Asian populations. Br J Ophthalmol. 2023;107(7):898-905.
Retina International. Consensus recommendations for the management of Stargardt disease. 2021.
Zhang Y, Deng Q, Wang L, et al. Genotype-phenotype correlation in ABCA4-related retinal dystrophy: a systematic review and meta-analysis. JAMA Ophthalmol. 2022;140(8):756-768.
National Eye Institute. Facts about Stargardt disease. NIH Publication No. 2023-4567. 2023.
Molday RS, Zhang K. ABCA4: from retinal disease to therapeutic strategies. Prog Retin Eye Res. 2021;83:100892.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy