ACHROMATOPSIA 2

General Information (adopted from Orphanet):

Synonyms, Signs: COLORBLINDNESS, TOTAL
ROD MONOCHROMACY 2
ROD MONOCHROMATISM 2
ACHM2
RMCH2
Number of Symptoms 7
OrphanetNr:
OMIM Id: 216900
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:0012047) Hemeralopia 7 / 7739
2
(HPO:0011516) Achromatopsia 5 / 7739
3
(HPO:0000613) Photophobia 158 / 7739
4
(OMIM) Decreased foveolar thickness 2 / 7739
5
(OMIM) Colors indistinguishable 1 / 7739
6
(OMIM) Infantile nystagmus 2 / 7739
7
(OMIM) Funduscopy normal 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Total colorblindness, also referred to as rod monochromacy or complete achromatopsia, is a rare congenital autosomal recessive disorder characterized by photophobia, reduced visual acuity, nystagmus, and the complete inability to discriminate between colors. Electroretinographic recordings show that in ...
Clinical Description OMIM Patients with achromatopsia have poor visual acuity, photophobia, congenital nystagmus, and colorblindness. Photophobia is striking, even in light of ordinary intensity. Vision in ordinary light is severely restricted, and relatively better in dim light. The fundus appears normal ...
Molecular genetics OMIM Kohl et al. (1998) identified missense mutations (600053.0001-600053.0005) in CNGA3 in 5 families with rod monochromacy. In 2 families the mutations were homozygous, whereas the remaining families showed compound heterozygous mutations. In all cases, the segregation pattern was ...
Population genetics OMIM Zlotogora (1995) stated that this usually very rare disorder is relatively frequent among Moroccan, Iraqi, and Iranian Jews.