enhanced S-cone syndrome 1

Term ID

DOID:0061231

Synonyms

Definition

A retinal disease that is characterized by 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 and suffer 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 that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear receptor gene NR2E3 on chromosome 15q23. https://pubmed.ncbi.nlm.nih.gov/10655056/

References

• MIM:268100

Ontology

Human Disease   ( DOID:0061231 )