dominant cone-rod dystrophy type 9 (CORD9)

Genetics

mutation in RPGRIP1 gene

Clinical manifestations

• deterioration in central vision
• colorblindness
• onset at an early age
• rapid loss of vision between ages 14 & 16 years visual acuity 1/60)
• severe photophobia from childhood.

More general terms

• dominant cone-rod dystrophy

Additional terms

• RPGR-interacting protein 1; X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 (RPGRIP1)

Database

• OMIM: https://mirror.omim.org/entry/608194