U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Enhanced S-cone syndrome

Enhanced S-cone syndrome

Summary

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. [from MONDO]

Available tests

38 tests are in the database for this condition.

Clinical tests (38 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ESCS, PNR, RNR, RP37, rd7, NR2E3
    Summary: nuclear receptor subfamily 2 group E member 3

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.