Achromatopsia

General Information (adopted from Orphanet):

Synonyms, Signs: ACHM
Rod monochromacy
Total color blindness
Rod monochromatism
Pingelapese blindness
Complete or incomplete color blindness
Number of Symptoms 6
OrphanetNr: 49382
OMIM Id: 216900
262300
610024
613093
613856
ICD-10: H53.5
UMLs: C0152200
MeSH:
MedDRA: 10000454
Snomed: 56852002

Prevalence, inheritance and age of onset:

Prevalence: 2.7 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
(HPO:0011516) Achromatopsia 5 / 7739
2
(HPO:0000618) Blindness 124 / 7739
3
(HPO:0000639) Nystagmus 555 / 7739
4
(HPO:0012047) Hemeralopia 7 / 7739
5
(HPO:0000613) Photophobia 158 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Diagnosis GeneReviews The clinical diagnosis of achromatopsia is based on the presence of typical clinical findings:...
Clinical Description GeneReviews Achromatopsia is characterized by reduced visual acuity, pendular nystagmus, increased sensitivity to light (photophobia), a small central scotoma (which is often difficult to demonstrate), eccentric fixation, and reduced or complete loss of color discrimination. Hyperopia is common. Nystagmus develops during the first few weeks after birth and is followed by increased sensitivity to bright light....
Genotype-Phenotype Correlations GeneReviews In the majority of individuals affected by autosomal recessive achromatopsia, mutations in one of the four reported genes result in the complete form of the disorder. Yet CNGA3, CNGB3 and PDE6C mutations can also lead to autosomal recessive progressive cone dystrophy [Jägle et al 2001, Wissinger et al 2001, Michaelides et al 2004, Trankner et al 2004, Thiadens et al 2009, Thiadens et al 2010]. A splice mutation in GNAT2 is associated with the milder phenotype of incomplete achromatopsia (oligo cone trichromacy) [Rosenberg et al 2004]....
Differential Diagnosis GeneReviews Achromatopsia is readily recognized by its characteristic features: severely reduced visual acuity, pendular nystagmus, increased sensitivity to light, and reduced or complete loss of color discrimination and other psychophysical and electroretinographic findings. The following retinopathies may be confused with achromatopsia:...
Management GeneReviews To establish the extent of disease in an individual diagnosed with achromatopsia, the following evaluations are recommended:...
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....