Phenotypes associated with the disease Leber hereditary optic neuropathy (OMIM:535000):
- Visual loss (HP:0000572): Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). Evidence: IEA. (OMIM:535000)
- Leber optic atrophy (HP:0001112): Degeneration of retinal ganglion cells and their axons. Evidence: IEA. (OMIM:535000)
- Dystonia (HP:0001332): An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. Evidence: IEA. (OMIM:535000)
- Myopathy (HP:0003198): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: IEA. (OMIM:535000)
- Polyneuropathy (HP:0001271): A generalized disorder of peripheral nerves. Evidence: IEA. (OMIM:535000)
- Ataxia (HP:0001251): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: IEA. (OMIM:535000)
- Postural tremor (HP:0002174): A type of tremors that is triggered by holding a limb in a fixed position. Evidence: IEA. (OMIM:535000)
- Arrhythmia (HP:0011675): Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. Evidence: IEA. (OMIM:535000)
- Typified by incomplete penetrance (HP:0003829): Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years. Evidence: TAS. (OMIM:535000)
- Mitochondrial inheritance (HP:0001427): A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy). Evidence: TAS. (OMIM:535000)
- Optic atrophy (HP:0000648): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: IEA. (OMIM:535000)
- Centrocecal scotoma (HP:0000576): A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape. Evidence: IEA. (OMIM:535000)
- Optic neuropathy (HP:0001138). Evidence: IEA. Frequency: Frequent (HP:0040282). (OMIM:535000)
- Central retinal vessel vascular tortuosity (HP:0007768): The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules). Evidence: TAS. (OMIM:535000)