Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 19/04/2012
Symbol ACHM3
Location 8q21.3
Name achromatopsia 3
Corresponding gene CNGB3
Main clinical features
  • absence of color discrimination, with reduced visual acuity, nystagmus, and photophobia
  • complete, total color blindness, rod monochromatism, Pingelapese type (Easten Caroline Islands), exhibiting apparent rod dysfunction due to a defect in a cone photoreceptor specific gene
  • absent foveal reflex or nonspecific retinal pigment epithelium mottling to mild hypopigmentary changes on fundus examination, atrophic-appearing macular lesion, disruption or loss of the macular inner/outer segments junction of the photoreceptors (PMID:21778272))
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease
    Gene product
    Name cyclic nucleotide gated channel beta 3
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function 1148 delC predominant mutation (80 p100)
    missense   abnormal protein/gain of function F525N mutation resulted in more pronounced alterations in channel function than the mutation combinations linked to macular degeneration or progressive cone dystrophy
    Remark(s)