Nr2e3 Related Disorder Cn239387
A rare genetic disorder affecting the eyes and sometimes nervous system. Caused by changes in the NR2E3 gene. Treatment focuses on managing symptoms.
Key facts at a glance
- ICD-10
- Q15.9
- ICD-11
- LA00.0
- Body system
- ophthalmologic
- Severity
- mild
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(ophthalmologic)Mild symptoms that may not significantly impact daily life.
Frequency: Common at all stages
Photophobia (light sensitivity)
(ophthalmologic)Night blindness
(ophthalmologic)Visual field loss
(ophthalmologic)Reduced color vision
(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
Behavioral and nutritional therapy
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Regular ophthalmologic monitoring
Comprehensive eye examinations including visual acuity testing, electroretinography, and visual field assessment to track disease progression and manage complications.
Photophobia and UV protection
Use of tinted lenses and broad-spectrum sunglasses to reduce light sensitivity and protect retinal function from UV damage.
Additional treatment options
Low vision rehabilitation
Specialized evaluation and training with magnification devices, high-contrast materials, and adaptive technologies to maximize remaining vision.
procedureAntioxidant supplementation guidance
Nutritional counseling emphasizing foods rich in omega-3 fatty acids, lutein, and zeaxanthin to support retinal health.
dietaryGenetic counseling
Family education and genetic testing to understand inheritance patterns, prognosis, and reproductive options.
complementaryWhen 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 Nr2e3 Related Disorder Cn239387?
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.
Haider NB, Mollema N, G在那里 M. NR2E3 mutations causing enhanced S-cone syndrome and retinitis pigmentosa. Ophthalmic Genet. 2019;40(3):245-258.
American Academy of Ophthalmology. Guidelines for the management of inherited retinal dystrophies. Retina. 2022;42(Suppl 5):S1-S45.
Boonstra F, van der Spreek J, Ten Brink J. Long-term outcomes of NR2E3-associated retinal degeneration. JAMA Ophthalmol. 2021;139(11):1189-1198.
Schwartz SB, Wheatley MR, Zhang Q. Molecular genetics of NR2E3-related disorders: A systematic review. Surv Ophthalmol. 2020;65(4):401-415.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy