ACHROMATOPSIA 3

General Information (adopted from Orphanet):

Synonyms, Signs: RMCH1, FORMERLY
ACHROMATOPSIA WITH MYOPIA
PINGELAPESE BLINDNESS
ACHM1, FORMERLY
ROD MONOCHROMACY 1, FORMERLY
ROD MONOCHROMATISM 1, FORMERLY
TOTAL COLORBLINDNESS WITH MYOPIA
ACHM3
Number of Symptoms 13
OrphanetNr:
OMIM Id: 262300
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0007803) Monochromacy 3 / 7739
2
 (HPO:0007811) Horizontal pendular nystagmus 3 / 7739
3
 (HPO:0011003) Severe Myopia 31 / 7739
4
 (HPO:0001141) Severe visual impairment 11 / 7739
5
 (HPO:0000518) Cataract 454 / 7739
6
 (HPO:0000618) Blindness 124 / 7739
7
 (HPO:0000613) Photophobia 158 / 7739
8
 (HPO:0007641) Dyschromatopsia 19 / 7739
9
 (HPO:0011516) Achromatopsia 5 / 7739
10
 (OMIM) Decreased foveolar thickness 2 / 7739
11
 (OMIM) Colorblindness 1 / 7739
12
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
 (OMIM) Congenital complete achromatopsia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Brody et al. (1970) described in Pingelapese people of the eastern Caroline Islands in the Pacific, a severe ocular abnormality manifested by horizontal pendular nystagmus, photophobia, amaurosis, colorblindness, and gradually developing cataract. From 4 to 10% of Pingelapese ...
Molecular genetics OMIM To refine the position of the ACHM3 locus by homozygosity mapping, Sundin et al. (2000) genotyped 60 affected individuals and narrowed the disease locus to a 1.4-cM interval, estimated at 2 Mb. Sundin et al. (2000) found that ...
Population genetics OMIM Among 798 individuals of south Asian origin, Lazarin et al. (2013) determined that the carrier frequency for achromatopsia caused by CNGB3 mutation was approximately 1 in 24. Among 15,798 ethnically diverse individuals screened, 162 carriers were identified (1%), ...