achromatopsia
Findings
No curated finding names achromatopsia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.
Definition from the Mondo Disease Ontology (MONDO:0018852), read 2026-09-29. CC BY 4.0.
Features
21 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.
- Abnormality of refractionHPOHP:0000539
- Very frequent (80% to 99% of cases)
- Color vision defectHPOHP:0000551
- Very frequent (80% to 99% of cases)
- Color vision test abnormalityHPOHP:0030584
- Very frequent (80% to 99% of cases)
- Inner retinal layer loss on macular OCTHPOHP:0030620
- Very frequent (80% to 99% of cases)
- MonochromacyHPOHP:0007803
- Very frequent (80% to 99% of cases)
- Pendular nystagmusHPOHP:0012043
- Very frequent (80% to 99% of cases)
- PhotophobiaHPOHP:0000613
- Very frequent (80% to 99% of cases)
- Undetectable light-adapted electroretinogramHPOHP:0030465
- Very frequent (80% to 99% of cases)
- Absent foveal reflexHPOHP:0030825
- Frequent (30% to 79% of cases)
- Central scotomaHPOHP:0000603
- Frequent (30% to 79% of cases)
- HypermetropiaHPOHP:0000540
- Frequent (30% to 79% of cases)
- Hypoplasia of the foveaHPOHP:0007750
- Frequent (30% to 79% of cases)
Show the remaining 9
- MyopiaHPOHP:0000545
- Frequent (30% to 79% of cases)
- Reduced visual acuityHPOHP:0007663
- Frequent (30% to 79% of cases)
- Abnormal macular morphologyHPOHP:0001103
- Occasional (5% to 29% of cases)
- Abnormal pupillary light reflexHPOHP:0007695
- Occasional (5% to 29% of cases)
- Attenuation of retinal blood vesselsHPOHP:0007843
- Occasional (5% to 29% of cases)
- Eccentric visual fixationHPOHP:0025549
- Occasional (5% to 29% of cases)
Genes
7 genes
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.
- PDE6HHGNC:8790
- Strong · G2P · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- ATF6HGNC:791
- Supportive · Orphanet · Autosomal recessive · 2021
- CNGA3HGNC:2150
- Supportive · Orphanet · Autosomal recessive · 2021
- CNGB3HGNC:2153
- Supportive · Orphanet · Autosomal recessive · 2021
- GNAT2HGNC:4394
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: achromatopsia
- Also called
- ACHMcomplete or incomplete color blindnesscomplete or incomplete colour blindnessPingelapese blindnessRod monochromacyRod monochromatismtotal color blindnesstotal colour blindness