congenital stationary night blindness type 1 X-linked (XLCSNB)

Epidemiology

rare

Genetics

• associated with defects in nyctalopin gene

Clinical manifestations

• impaired scotopic vision
• myopia
• hyperopia
• nystagmus & reduced visual acuity

Diagnostic procedures

• electroretinogram:
  • absence of rod b-wave but largely normal cone amplitudes

More general terms

• congenital stationary night blindness type 1 (CSNB1)

Additional terms

• nyctalopin (NYX, CLRP)

Database

• OMIM: https://mirror.omim.org/entry/310500