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achromatopsia 2 (ACHM2)
Pathology: cones are defective
Genetics:
1) autosomal recessive
2) defects in the CNGA3 gene
Clinical manifestations:
- congenital complete achromatopsia (rod monochromacy)
- day blindness & photophobia
- subjects see better at night
Related
cGMP-gated cation channel alpha 3 (CNG channel alpha 3, cyclic nucleotide gated channel alpha 3, cone photoreceptor cGMP-gated channel alpha subunit, CNGA3, CNCG3)
General
achromatopsia (colorblindness)
Database Correlations
OMIM 216900
References
OMIM :accession 216900