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dominant cone-rod dystrophy type 9 (CORD9)

Genetics: mutation in RPGRIP1 gene Clinical manifestations: 1) deterioration in central vision 2) colorblindness 3) onset at an early age 4) rapid loss of vision between ages 14 & 16 years visual acuity 1/60) 5) severe photophobia from childhood.

Related

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

General

dominant cone-rod dystrophy

Database Correlations

OMIM 608194

References

  1. OMIM :accession 608194