enhanced S-cone syndrome

Term ID

DOID:0090059

Synonyms

Definition

A retinal disease that is characterized by early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear receptor subfamily 2 group E member 3 gene (NR2E3) on chromosome 15q23. (2)

References

• MESH:C564835
• OMIM:268100

Ontology

Human Disease   ( DOID:0090059 )