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Achromatopsia — Gene Therapy & Clinical Trials | FollowGene
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Achromatopsia
Achromatopsia
Prevalence:
1/30000
ophthalmologic
Official
·
OMIM:216900
Official
·
ORPHA49382
Complete color blindness due to CNGA3 or CNGB3 gene mutations.
Associated Genes
CNGA3
Cyclic Nucleotide Gated Channel Subunit Alpha 3
Chromosome 2
Autosomal Recessive
CNGB3
Cyclic Nucleotide Gated Channel Subunit Beta 3
Chromosome 8
Autosomal Recessive