achromatopsia 2
Findings
No curated finding names achromatopsia 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Achromatopsia 2 is a condition that affects the color vision. Most people have complete achromatopsia which is characterized by a total absence of color vision (only able to see black, white and shades of gray). Rarely, affected people may have incomplete achromatopsia which is associated with some color discrimination. Other common signs and symptoms include reduced visual acuity, involuntary back-and-forth eye movements, increased sensitivity to light (photophobia), and hyperopia (farsightedness). Achromatopsia 2 is caused by changes (mutations) in the CNGA3 gene and is inherited in an autosomal recessive manner. Although color discrimination cannot be improved, treatments are available to address some of the other associated symptoms.
Definition from the Mondo Disease Ontology (MONDO:0009003), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
14 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HemeralopiaHPOHP:0012047
- 2 of 2 reported patients
- Myopic astigmatismHPOHP:0500041
- 2 of 2 reported patients
- NystagmusHPOHP:0000639
- 2 of 2 reported patients
- PhotophobiaHPOHP:0000613
- 2 of 2 reported patients
- Reduced visual acuityHPOHP:0007663
- 17 of 17 reported patients
- Undetectable light-adapted electroretinogramHPOHP:0030465
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CNGA3HGNC:2150
- Definitive · Illumina · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
Other names
7 names
Resolves to: achromatopsia 2
- Also called
- ACHM2achromatopsia caused by mutation in CNGA3achromatopsia type 2CNGA3 achromatopsiaRMCH2rod monochromacy 2rod monochromatism 2