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enhanced S cone syndrome (ESCS); Goldmann-Favre syndrome; retinoschisis with early hemeralopia
Pathology:
1) retinopathy
2) retinal degeneration (variable)
Genetics:
1) autosomal recessive
2) associated with defects in NR2E3 gene
Clinical manifestations:
1) increased sensitivity to blue light S (short wavelength, blue) cones
2) visual loss
3) night blindness occurring from early in life
4) varying degrees of L (long, red)- & M (middle, green)-cone vision
General
genetic syndrome (multisystem disorder)
genetic disease of the eye
retinopathy
References
- OMIM :accession 268100