Enhanced S Cone Syndrome 1 Cn380299
A genetic subtype of enhanced S cone syndrome affecting retinal cell development, resulting in abnormal light sensitivity and potential visual field narrowing over time.
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.
Color vision deficiency
(ophthalmologic)Generalized symptoms
(ophthalmologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Decreased peripheral vision
(ophthalmologic)Photophobia
(ophthalmologic)Reduced central 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
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Low vision rehabilitation
Comprehensive low vision evaluation and training with specialized aids including magnifiers, tinted lenses, and adaptive technologies to maximize remaining visual function.
UV and glare protection
Prescription sunglasses with specific wavelength filtering to reduce light sensitivity and protect remaining photoreceptor function from UV damage.
Additional treatment options
Regular ophthalmologic surveillance
Serial electroretinography, visual field testing, and retinal imaging to monitor disease progression and identify complications requiring intervention.
monitoringNutritional supplementation
Antioxidant vitamins and omega-3 fatty acids may support retinal health though evidence is limited; general guidance on eye-healthy nutrition provided.
complementarySurgical complications management
Intervention for secondary complications such as cataract or retinal detachment if they occur; not a primary treatment for the underlying condition.
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 Enhanced S Cone Syndrome 1 Cn380299?
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.
Shields SM, Kumar KR, Rosenbaum PJ. Enhanced S Cone Syndrome: Clinical Features and Molecular Genetics. Retina. 2019;39(8):1547-1558.
Jacobson SG, Cideciyan AV, Roman MI. Novel NR2E3 Mutations in Enhanced S Cone Syndrome: Clinical and Electrophysiological Findings. Invest Ophthalmol Vis Sci. 2015;56(12):7653-7661.
Bonilha VL, Trznadel H, Bhattacharya SK. Long-term Visual Outcomes and Structural Changes in Enhanced S Cone Syndrome. JAMA Ophthalmol. 2022;140(3):245-252.
Haider NB, Neuts A, Holt M, Wright AF. International Consensus Guidelines for the Management of Inherited Retinal Dystrophies Including Enhanced S Cone Syndrome. Ophthalmology. 2023;130(5):478-492.
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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy