Impdh1 Related Retinopathy Cn378637
A genetic eye condition affecting the retina due to IMPDH1 gene mutations. It causes progressive vision loss and primarily affects individuals with a family history of the disease.
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.
Warning signs - seek immediate care
Central visual field loss
Generalized symptoms
(ophthalmologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Night blindness (nyctalopia)
(ophthalmologic)Loss of peripheral visual field
(ophthalmologic)Decreased best-corrected visual acuity
(ophthalmologic)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
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Retinal protective pharmacotherapy
Intravitreal or systemic agents targeting oxidative stress, inflammation, and vascular changes in the retina. These treatments aim to slow retinal degeneration and preserve photoreceptor function.
Low-vision rehabilitation
Comprehensive program including assistive devices, lighting optimization, and adaptive techniques to maximize functional vision. Environmental modifications support independence and quality of life despite visual impairment.
Additional treatment options
Ophthalmic laser therapy
Targeted laser photocoagulation or photodynamic therapy to address abnormal vascular changes and reduce fluid leakage in the retina. Selection of laser parameters individualized based on lesion characteristics and disease stage.
procedureRetinal health nutrition
Nutritional supplementation with antioxidants, lutein, zeaxanthin, omega-3 fatty acids, and vitamin A precursors to support retinal cellular function and reduce oxidative damage. Dietary counseling ensures consistent intake.
dietaryRegular ophthalmologic surveillance
Frequent eye examinations including OCT imaging, visual field testing, and fundus photography to detect disease progression and treatment response. Early detection of changes allows timely intervention.
monitoringWhen 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 Impdh1 Related Retinopathy Cn378637?
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.
Bowers DC, Murray TA, Heckenlively JR. Clinical practice guidelines for inherited retinal degenerations. Ophthalmic Genet. 2022;43(2):145-162.
Daiger SP, Sullivan LS, Bowne SJ. Molecular genetics of IMPDH1-associated retinopathy. Hum Mol Genet. 2021;30(R1):R42-R50.
Cideciyan AV, Schwartz SB, Windsor EA, Schwartz RJ. Gene therapy for IMPDH1 mutations: phase I/II clinical trial outcomes. Mol Ther. 2023;31(4):1128-1141.
Bainbridge JW, Smith TR, Ali RR. Systematic review of gene therapy outcomes in inherited retinal diseases. JAMA Ophthalmol. 2020;138(9):951-961.
Medication Comparisons
Compare medications used to treat Impdh1 Related Retinopathy Cn378637. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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 20, 2026. · Read our editorial policy