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Blue cone monochromatism
1 OMIM reference -
2 associated genes
4 connected diseases
7 signs/symptoms
Disease Type of connection
Cone rod dystrophy
Acute necrotizing encephalopathy of childhood
Familial acute necrotizing encephalopathy
Inflammatory myofibroblastic tumor
Synonym(s):
- Atypical X-linked achromatopsia
- Blue cone monochromacy
- Color blindness, blue monocone monochromatic type
- S cone monochromacy
- S cone monochromatism
- X-linked incomplete achromatopsia

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
2 MeSH references: C536238 / C538165

Gene symbol UniProt reference OMIM reference
OPN1LW P04000300822
OPN1MW P04001300821
Occasional
- Abnormal ERG / electroretinogram / electroretinography
- Achromatopsia / dyschromatopsia / daltonism / impaired colour vision
- Corneal dystrophy
- Mild visual loss / impaired visual acuity
- Photophobia
- Retinitis pigmentosa / retinal pigmentary changes
- X-linked recessive inheritance