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Tritanopia
Disease definition
Tritanopia is an extremely rare form of colour blindness characterised by a selective deficiency of blue vision.
ORPHA:88629
Classification level: Disorder- Synonym(s):
- Blue colour blindness
- Congenital tritanopia
- Tritan colour blindness
- Prevalence: 1-9 / 100 000
- Inheritance: Autosomal dominant
- Age of onset: Infancy, Neonatal
- ICD-10: H53.5
- OMIM: 190900
- UMLS: C0155017
- MeSH: -
- GARD: -
- MedDRA: -
Summary
Epidemiology
It affects between 1 in 13,000 and 1 in 15,000 newborns.
Clinical description
Red and green vision is unaffected.
Etiology
It is associated with a deficiency or absence of blue-sensitive cone photoreceptor function. The disease is caused by point mutations in the gene encoding the blue-sensitive visual pigment.
Genetic counseling
Tritanopia is transmitted as an autosomal dominant trait.
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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