Clinical Trials
2
Total Trials
1
Recruiting
1
With Results
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Mitochondrial respiratory chain defects
Very frequent (80-99%)HP:0200125
Subacute deterioration of visual acuity
Very frequent (80-99%)HP:0007924
Blind spot located at fixation point
Frequent (30-79%)HP:0000603
Blurred vision
Frequent (30-79%)HP:0000622
Centrocecal scotoma
Frequent (30-79%)HP:0000576
Damaged optic nerve
Frequent (30-79%)HP:0001138
Optic atrophy
Frequent (30-79%)HP:0000648
Progressive visual loss
Frequent (30-79%)HP:0000529
Retinal telangiectasia
Frequent (30-79%)HP:0007763
Tortuous retinal vessels
Frequent (30-79%)HP:0012841
Abnormal colour vision
Occasional (5-29%)HP:0000551
Abnormal contrast sensitivity
Occasional (5-29%)HP:0032036
Abnormal ERG
Occasional (5-29%)HP:0000512
Abnormal visual evoked responses
Occasional (5-29%)HP:0000649
Ataxia
Occasional (5-29%)HP:0001251
Cardiac arrhythmias
Occasional (5-29%)HP:0011675
Myopathy
Occasional (5-29%)HP:0003198
Peripheral neuropathy
Occasional (5-29%)HP:0009830
Postural tremor
Occasional (5-29%)HP:0002174
Retinal nerve fiber edema
Occasional (5-29%)HP:0020120
Ventricular pre-excitation
Occasional (5-29%)HP:0004309
Dystonic disease
HP:0001332
Leber optic atrophy
HP:0001112
Polyneuropathy
HP:0001271
Tortuosity of main retinal vessels
HP:0007768
Visual loss
HP:0000572
Quick Facts
- SNOMED CT
- 58610003
- UMLS CUI
- C0917796
- Fully Specified Name
- Leber's optic atrophy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 26
- Clinical Trials
- 2
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.