Blue cone monochromatism

General Information (adopted from Orphanet):

Synonyms, Signs: COD5, INCLUDED
COLORBLINDNESS, BLUE-MONO-CONE-MONOCHROMATIC TYPE
CBBM CONE DYSTROPHY 5, X-LINKED, INCLUDED
BLUE CONE MONOCHROMATISM
BCM
Blue cone monochromacy
Atypical X-linked achromatopsia
X-linked incomplete achromatopsia
S cone monochromatism
S cone monochromacy
Color blindness, blue monocone monochromatic type
Number of Symptoms 15
OrphanetNr: 16
OMIM Id: 303700
ICD-10: H53.5
UMLs: C0339537
C2931753
MeSH: C536238
C538165
MedDRA:
Snomed: 24704003

Prevalence, inheritance and age of onset:

Prevalence: 1 of 100 000 [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: 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:0000512) Abnormal electroretinogram Occasional [Orphanet] 61 / 7739
2
(HPO:0001131) Corneal dystrophy Occasional [Orphanet] 56 / 7739
3
(HPO:0000545) Myopia 286 / 7739
4
(HPO:0007663) Reduced visual acuity 100 / 7739
5
(HPO:0000505) Visual impairment Occasional [Orphanet] 297 / 7739
6
(HPO:0000639) Nystagmus Common [HPO:probinson] 555 / 7739
7
(HPO:0000642) Red-green dyschromatopsia Occasional [Orphanet] 25 / 7739
8
(HPO:0012043) Pendular nystagmus 11 / 7739
9
(HPO:0008002) Abnormality of macular pigmentation Occasional [HPO:probinson] 20 / 7739
10
(HPO:0007939) Blue cone monochromacy 1 / 7739
11
(HPO:0000613) Photophobia Occasional [Orphanet] 158 / 7739
12
(HPO:0000510) Rod-cone dystrophy Occasional [Orphanet] 266 / 7739
13
(HPO:0001419) X-linked recessive inheritance 189 / 7739
14
(OMIM) Macular retinal pigment epithelial changes (in some patients) 1 / 7739
15
(OMIM) Colorblindness, blue cone monochromacy type 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Blue cone (OPN1SW; 613522) monochromatism is a rare X-linked congenital stationary cone dysfunction syndrome characterized by the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina. Color discrimination is severely impaired from birth, and vision ...
Clinical Description OMIM The first detailed description of blue cone monochromacy is that given by Huddart (1777). The subject of that report 'could never do more than guess the name of any color; yet he could distinguish white from black, or ...
Molecular genetics OMIM In all 12 families with blue cone monochromacy (BCM) studied by Nathans et al. (1989), alterations were observed in the red and green visual pigment gene array. The alterations fell into 2 classes: one class, seen in 4 ...
Population genetics OMIM Blue cone monochromatism affects approximately 1 in 100,000 individuals (review by Gardner et al., 2009).