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enhanced S-cone syndrome (ESCS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

enhanced S-cone syndrome

MONDO:0100288

Also known as:ESCSretinoschisis with early nyctalopia

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Overview

An autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. Characteristics include visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration.

GeneticsAutosomal recessive · NR2E3 (chr 15)

Clinical Trials1 registered · 1 recruiting

Clinical Presentation

Features include: Undetectable electroretinogram, Retinoschisis, Nyctalopia, and Hemeralopia and 5 more.

Organ System	Phenotype Count	Example Features
Eyes	3	Macular edema, Cataract, Pigmentary retinopathy

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Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

NR2E3 encodes nuclear receptor subfamily 2 group E member 3 (410 aa). Orphan nuclear receptor of retinal photoreceptor cells. Transcriptional factor that is an activator of rod development and repressor of cone development. Highest expression in Prostate (1.3 TPM) and Testis (1.2 TPM).

Enhanced S-cone syndrome is caused by mutations in the NR2E3 gene on chromosome 15.

NR2E3 is classified as a druggable target (Druggable Genome, Nuclear Hormone Receptor, Transcription Factor, and Transcription Factor Complex categories) with score 1.9.

Diagnosis

Genetic testing for NR2E3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for enhanced S-cone syndrome has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

27 publications have been identified in PubMed for enhanced S-cone syndrome. Research spans Case Report / Case Series (44%), Basic Science / Preclinical (22%), and Review / Meta-Analysis (19%).

Research Type	Count	% of Total
Patient case studies	12	44%

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 3:32 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:268100

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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enhanced S-cone syndrome

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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