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achromatopsia 3 (ACHM3); Pingelapese blindness
Genetics:
- defects in the CNGB3 gene
Clinical manifestations:
1) congenital complete achromatopsia
2) severe myopia
Laboratory:
- CNGB3 gene mutation
Related
Cyclic-nucleotide-gated cation channel beta 3 (CNG channel beta 3, cone photoreceptor cGMP-gated channel beta subunit, cyclic nucleotide-gated cation channel modulatory subunit, CNGB3)
General
achromatopsia (colorblindness)
Database Correlations
OMIM 262300
References
OMIM :accession 262300