Gene: [06q27/RCD1] retinal cone dystrophy; [RCD ]


HET

Achromatopsy with cone distrophy must be distinguished from the complete color blindness (MIM:216900). In the latter case, cones are intact but color vision is disturbed."

REL

GEM:06p/RDS.

REF

HIS,PAT,FOG "Berson &: Arch Ophthal, 80, 77-83, 1968
HIS,PAT,FOG "Davis, Hollenhorst: Am J Ophthal, 39, 637-643, 1955
REV,PAT,PHE "Krill &: Doc Ophthal, 35, 1-80, 1973
LOC,CYG "Rivas &: Ann Genet, 29, 42-44, 1986
HIS,PAT,FOG "Sloan, Brown: Am J Ophthal, 54, 629-641, 1962
LOC,CYG "Tranebjaerg &: Ophthalmic Paediat Genet, 7, 167-173, 1986
HET,LOC,CYG "Warburg M &: Am J Med Genet, 39, N3, 288-293, 1991

KEY

eye, neu

CLA

unknown, basic

LOC

06 q27?

MIM

MIM: 180020

SYN

RCD

Смотрите также:

  • Gene: [0Xp113/COD1] cone dystrophy, X-linked, 1 (incomplete achromatopsia);