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 |
