Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormality of refraction
Very frequent (80-99%)HP:0000539
Color vision defect, severe
Very frequent (80-99%)HP:0000551
Colour vision test abnormality
Very frequent (80-99%)HP:0030584
Inner retinal layer loss on macular OCT
Very frequent (80-99%)HP:0030620
Monochromacy
Very frequent (80-99%)HP:0007803
non-detectable photopic ERG
Very frequent (80-99%)HP:0030465
Nystagmus, continuous pendular
Very frequent (80-99%)HP:0012043
Photophobia
Very frequent (80-99%)HP:0000613
Blind spot located at fixation point
Frequent (30-79%)HP:0000603
Decreased visual acuity
Frequent (30-79%)HP:0007663
Foveal hypoplasia
Frequent (30-79%)HP:0007750
Hyperopia
Frequent (30-79%)HP:0000540
Loss of foveal reflex
Frequent (30-79%)HP:0030825
Near sighted
Frequent (30-79%)HP:0000545
Abnormal pupillary light reflex
Occasional (5-29%)HP:0007695
Abnormality of the macula
Occasional (5-29%)HP:0001103
Attenuation of retinal blood vessels
Occasional (5-29%)HP:0007843
Eccentric visual fixation
Occasional (5-29%)HP:0025549
RPE irregularity
Occasional (5-29%)HP:0007814
Retinal pigment epithelial atrophy
Very rare (1-4%)HP:0007722
Quick Facts
- SNOMED CT
- 56852002
- UMLS CUI
- C0152200
- Fully Specified Name
- Achromatopsia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 20
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.