Tritanopia

General Information (adopted from Orphanet):

Synonyms, Signs: BLUE COLORBLINDNESS
COLORBLINDNESS, TRITANOPIC
COLORBLINDNESS, TRITAN
CBT
Blue colour blindness
Congenital tritanopia
Tritan colour blindness
Number of Symptoms 7
OrphanetNr: 88629
OMIM Id: 190900
ICD-10: H53.5
UMLs:
MeSH:
MedDRA:
Snomed: 85049009

Prevalence, inheritance and age of onset:

Prevalence: 4.8 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Color-vision disease
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000552) Tritanomaly 6 / 7739
2
 (HPO:0008275) Abnormal light-adapted electroretinogram 2 / 7739
3
 (OMIM) Abnormal blue cone ERG 1 / 7739
4
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
5
 (OMIM) Defective blue and yellow vision 1 / 7739
6
 (OMIM) Tritanopia 1 / 7739
7
 (OMIM) Normal red and green vision 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Tritanopia is an autosomal dominant disorder of human vision characterized by a selective deficiency of blue spectral sensitivity (Weitz et al., 1992).
Clinical Description OMIM The first report of tritan defects was that of Wright (1952) and related to a 'confusion chart' which had appeared in an article in a Netherlands illustrated paper, Picture Post, in 1951. Affected individuals lack blue and yellow ...
Molecular genetics OMIM Using PCR and denaturing gradient gel electrophoresis (DGGE), Weitz et al. (1992) detected point mutations in the BCP gene (613522.0001, 613522.0002) in 5 individuals with tritanopia. The dominant inheritance of these mutations suggested that the aberrant gene products ...
Population genetics OMIM Went and Pronk (1985) estimated the frequency of tritanopia at 2 per 1,000; Kalmus (1955) had suggested a much lower frequency, about 1 in 20,000, and Wright (1952) had estimated the frequency in Great Britain as 'between 1 ...