Gene: [02^/ACHM2] achromatopsia (rod monochromacy) 2; rod monochromacy (RMCH; total colorblindness); [RMCH ]

COM

Based on affected patient with maternal disomy associated with Robertsonian translocation (14;14) Pentao-1992 assigned the RMCH gene to Chr 14. Arbour-1997 did not find a linkage with Chr 14 markers and demonstrated that the disease gene lies within a 14cM interval which spans the Chr 2 centromere."

PAT

Achromatopsia is an autosomal recessive disease of the retina, characterised clinically by an inability to distinguish colors, imaired visual acuity, nistagmus and photophobia. On X-linked partial colorblindness see GEM:0Xq28/CBM, GEM:0Xq28/CBD, GEM:0Xq28/CBP."

REL

GEM:00.0/ACHM3.

REF

LIN,LOC "Arbour NC &: Hum Mol Genet, 6, 689-694, 1997
ABR,LOC "Pentao L &: AJHG, 50, 690-699, 1992

KEY

eye

CLA

unknown, basic

LOC

02 p11.2-q12

MIM

MIM: 216900

SYN

RMCH