Congenital stationary night blindness

disorder

SNOMED 232061009CUI C0339535

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal dark-adapted electroretinogram

Very frequent (80-99%)HP:0030469

Decreased visual acuity

Very frequent (80-99%)HP:0007663

Near sighted

Very frequent (80-99%)HP:0000545

Night blindness

Very frequent (80-99%)HP:0000662

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Night blindness, congenital stationary, complete

Frequent (30-79%)HP:0007642

Squint

Frequent (30-79%)HP:0000486

Compensatory head posture

Occasional (5-29%)HP:0031705

Electronegative ERG

Occasional (5-29%)HP:0007984

Hyperopia

Occasional (5-29%)HP:0000540

Reduced amplitude of dark-adapted bright flash electroretinogram a-wave

Occasional (5-29%)HP:0030483

Abnormal colour vision

Very rare (1-4%)HP:0000551

Retinal pigmentary anomaly

Very rare (1-4%)HP:0007703

Retinal thinning

Very rare (1-4%)HP:0030329

Related Conditions

Oguchi's disease(child)

Hereditary retinal dystrophy(parent)

Night blindness(parent)

Congenital anomaly of retina(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 232061009
UMLS CUI: C0339535
Fully Specified Name: Congenital stationary night blindness (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 14

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.