Overview
Bothnia retinal dystrophy is a disorder.
Auto-generated from clinical reference data. 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, progressive
Very frequent (80-99%)HP:0000529
Increased OCT-measured foveal thickness
Very frequent (80-99%)HP:0030618
Loss in color vision
Very frequent (80-99%)HP:0000551
Partial loss of field of vision
Very frequent (80-99%)HP:0001123
Undetectable dark-adapted electroretinogram
Very frequent (80-99%)HP:0030474
Abnormality of refraction
Frequent (30-79%)HP:0000539
Abnormality of the fovea
Frequent (30-79%)HP:0000493
Pigmentary retinal deposits
Frequent (30-79%)HP:0000580
Pigmented macular degeneration
Frequent (30-79%)HP:0000608
Retinal degeneration
Frequent (30-79%)HP:0000546
Retinitis
Frequent (30-79%)HP:0032118
RPE irregularity
Frequent (30-79%)HP:0007814
Abnormality of the choroid
Occasional (5-29%)HP:0000610
Annular scotoma
Occasional (5-29%)HP:0030529
Blind spot located at fixation point
Occasional (5-29%)HP:0000603
Difficulties with night vision
Occasional (5-29%)HP:0000662
Electronegative ERG
Occasional (5-29%)HP:0007984
Large central loss of field of vision
Occasional (5-29%)HP:0001129
Paracentral scotoma
Occasional (5-29%)HP:0030528
Retinal pigment epithelial atrophy
Occasional (5-29%)HP:0007722
Rod-cone dystrophy
Occasional (5-29%)HP:0000510
Abnormal ERG
HP:0000512
Breakdown of light-sensitive cells in back of eye
HP:0000556
Quick Facts
- SNOMED CT
- 715647007
- UMLS CUI
- C1843816
- Fully Specified Name
- Bothnia retinal dystrophy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 24
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.