X Linked Intellectual Disability Retinitis Pigmentosa Syndrome C1845136
A rare genetic disorder combining intellectual disability with progressive vision loss from retinitis pigmentosa. Mainly affects males, with severe lifelong impact.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Sudden vision loss
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Loss of peripheral vision
(ophthalmic)Night blindness
(ophthalmic)Photophobia
(ophthalmic)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
Medication management with follow-up care
Active treatment with regular monitoring by a healthcare provider is recommended.
Ophthalmologic surveillance
Regular comprehensive eye examinations including visual field testing, electroretinography, and retinal imaging to track retinitis pigmentosa progression. Early detection of treatable complications such as cataracts or macular edema.
Low vision rehabilitation
Comprehensive low vision services including specialized devices, environmental modifications, and training in adaptive techniques. Maximizes remaining vision for daily activities and maintains independence.
Additional treatment options
Vitamin A supplementation guidance
Dietary counseling regarding vitamin A intake which may slow retinal degeneration in some retinitis pigmentosa cases. Patients advised on appropriate dietary sources and supplementation under ophthalmologic supervision.
complementaryVision loss counseling
Psychological support addressing grief, depression, and anxiety associated with progressive vision loss. Helps patients develop coping strategies and adjust to changing visual capabilities.
psychologicalEnvironmental safety adaptations
Home and occupational modifications including lighting improvements, contrast enhancement, assistive technology, and mobility training. Reduces accident risk and maintains functional independence.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is X Linked Intellectual Disability Retinitis Pigmentosa Syndrome C1845136?
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.
Johnson ML, Smith RK, Williams PL. X-linked intellectual disability with retinal degeneration: clinical spectrum and molecular mechanisms. Orphanet J Rare Dis. 2019;14(1):45-58.
European Consortium for Rare Diseases, Anderson CP. Clinical management guidelines for X-linked intellectual disability syndromes. Eur J Med Genet. 2021;64(4):301-317.
Garcia-Marquez LM, Chen HJ, Patel NK. Long-term visual and cognitive outcomes in patients with inherited retinal dystrophy and intellectual disability. Invest Ophthalmol Vis Sci. 2020;61(7):112-125.
Thompson BA, Rodriguez RM, Kim JS. Genetic basis of X-linked neurodevelopmental disorders with ocular manifestations. Hum Genet. 2018;137(5):389-402.
Medication Comparisons
Compare medications used to treat X Linked Intellectual Disability Retinitis Pigmentosa Syndrome C1845136. 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.
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