Phenotypes associated with the disease Leber hereditary optic neuropathy (ORPHA:104):
- Slow decrease in visual acuity (HP:0007924). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:104)
- Mitochondrial respiratory chain defects (HP:0200125). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:104)
- Progressive visual loss (HP:0000529): A reduction of previously attained ability to see. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:104)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:104)
- Central scotoma (HP:0000603): An area of depressed vision located at the point of fixation and that interferes with central vision. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:104)
- Blurred vision (HP:0000622): Lack of sharpness of vision resulting in the inability to see fine detail. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:104)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:104)
- Retinal telangiectasia (HP:0007763): Localized, irregular dilatation of small tortuous intraretinal blood vessels. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:104)
- Retinal vascular tortuosity (HP:0012841): An increased number of twists and turns of the retinal blood vessels. This can affect either arteries, veins or both. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:104)
- Abnormal electroretinogram (HP:0000512): Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:104)
- Color vision defect (HP:0000551): An anomaly in the ability to discriminate between or recognize colors. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:104)
- Abnormality of visual evoked potentials (HP:0000649): An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:104)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:104)
- Postural tremor (HP:0002174): A type of tremors that is triggered by holding a limb in a fixed position. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:104)
- Myopathy (HP:0003198): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:104)
- Ventricular preexcitation (HP:0004309): An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:104)
- Peripheral neuropathy (HP:0009830): Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:104)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:104)
- Retinal nerve fiber edema (HP:0020120): Swelling (edema) of the retinal nerve fibers. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:104)
- Reduced contrast sensitivity (HP:0032036): An abnormality in perception of contrast. Spatial contrast is a physical dimension referring to the light-dark transition of a border or an edge in an image that delineates the existence of a pattern or an object. Contrast sensitivity refers to a measure of how much contrast a person requires to see a target. Contrast-sensitivity measurements differ from acuity measurements; acuity is a measure of the spatial-resolving ability of the visual system under conditions of very high contrast, whereas contrast sensitivity is a measure of the threshold contrast for seeing a target. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:104)