enhanced S cone syndrome (ESCS); Goldmann-Favre syndrome; retinoschisis with early hemeralopia

Pathology

• retinopathy
• retinal degeneration (variable)

Genetics

• autosomal recessive
• associated with defects in NR2E3 gene

Clinical manifestations

• increased sensitivity to blue light S (short wavelength, blue) cones
• visual loss
• night blindness occurring from early in life
• varying degrees of L (long, red)- & M (middle, green)-cone vision

More general terms

• genetic syndrome (multisystem disorder)
• genetic disease of the eye
• retinopathy