Leber's hereditary optic neuropathy
GPTKB entity
Statements (78)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:physicist
|
| gptkbp:affects |
optic nerve
|
| gptkbp:associated_with |
gptkb:historical_event
gptkb:retinitis_pigmentosa gptkb:Company gptkb:psychologist gptkb:Leber's_congenital_amaurosis cognitive decline anxiety disorders hearing loss neurological symptoms exercise intolerance transportation issues mitochondrial dysfunction educational challenges financial strain social withdrawal family stress mood disorders movement disorders accessibility challenges nystagmus healthcare access issues employment difficulties cardiac issues peripheral vision loss visual hallucinations bilateral vision loss photophobia research participation opportunities rehabilitation needs visual processing issues visual field defects independence challenges macular edema advocacy needs LHON mutations acute vision loss assistive technology needs central scotomas chronic vision loss clinical trial enrollment opportunities community support needs optic disc swelling other optic neuropathies pupil abnormalities quality of life concerns retinal changes retinal nerve fiber layer thinning unilateral vision loss |
| gptkbp:caused_by |
mitochondrial DNA mutations
|
| gptkbp:clinical_trial |
ongoing for treatment options
|
| gptkbp:complications |
psychosocial impact
|
| gptkbp:current_use |
other mitochondrial disorders
|
| gptkbp:descendant |
maternal inheritance
|
| gptkbp:family |
often present
|
| gptkbp:first_described_by |
gptkb:Theodor_Leber
|
| gptkbp:gender |
more common in males
|
| gptkbp:genetic_diversity |
recommended for affected families
|
| gptkbp:habitat |
MT-N D1, MT-N D4, MT-N D6
|
| https://www.w3.org/2000/01/rdf-schema#label |
Leber's hereditary optic neuropathy
|
| gptkbp:is_found_in |
various populations
|
| gptkbp:is_popular_in |
1 in 50,000
|
| gptkbp:number_of_teams |
can lead to blindness
|
| gptkbp:premiered_on |
typically in young adulthood
|
| gptkbp:research_focus |
gptkb:physicist
|
| gptkbp:risk_factor |
stress
alcohol consumption smoking |
| gptkbp:social_responsibility |
genetic testing
clinical and genetic evaluation |
| gptkbp:symptoms |
color vision deficiency
vision loss |
| gptkbp:treatment |
no effective treatment
|
| gptkbp:vision |
varies among individuals
|
| gptkbp:year_created |
1880s
|
| gptkbp:bfsParent |
gptkb:Theodor_Leber
|
| gptkbp:bfsLayer |
7
|