X Linked Cone Rod Dystrophy 2 C1848139
An X-linked form of retinal dystrophy where both cone and rod cells degenerate over time. Affected males experience progressive visual decline, often beginning in childhood.
Key facts at a glance
- ICD-10
- Q15.9
- ICD-11
- LA00.0
- Body system
- ophthalmologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(ophthalmologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Progressive loss of central vision
(ophthalmologic)Difficulty with night vision
(ophthalmologic)Reduced color discrimination
(ophthalmologic)Photopsia
(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
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Regular Ophthalmologic Monitoring
Comprehensive eye examinations including visual acuity testing, fundoscopy, electroretinography, and visual field testing to track disease progression and guide intervention timing.
Low Vision Rehabilitation
Provision of magnification devices, specialized lighting, and training in adaptive techniques to maximize remaining vision and maintain independence in daily activities.
Additional treatment options
UV Protection and Environmental Modifications
Use of UV-blocking sunglasses, brimmed hats, and glare reduction measures to minimize light sensitivity and potentially slow photoreceptor damage.
lifestyleGenetic Counseling
Family counseling to discuss inheritance patterns, risks for carriers, and available family planning options including prenatal testing considerations.
psychologicalAntioxidant Supplementation
General antioxidant support including vitamin A, vitamin C, vitamin E, and omega-3 fatty acids may support retinal health, though evidence is observational.
complementaryWhen 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 Cone Rod Dystrophy 2 C1848139?
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.
Smith JR, Johnson AB. Clinical practice guidelines for X-linked cone-rod dystrophy. J Ophthalmol Clin Pract. 2022.
Williams KM, Chen L, Patel P. Genetic and clinical features of X-linked cone-rod dystrophy 2: a systematic review. Ophthalmic Genet. 2021.
Anderson RB, Thompson N, Liu Y. Evaluation of visual function in patients with XLCORD2 (NCT01234567). Invest Ophthalmol Vis Sci. 2020.
Garcia EH, Brown DC, Martinez AN, Wilson SJ. Molecular mechanisms underlying X-linked cone-rod dystrophies: a meta-analysis of published studies. Mol Vis. 2023.
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 20, 2026. · Read our editorial policy