- Visual field defect (HP:0001123). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:499096)
- Dyschromatopsia (HP:0007641): A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:499096)
- Eye movement-induced pain (HP:0030857): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:499096)
- 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: Very frequent (HP:0040281). (ORPHA:499096)
- Ocular pain (HP:0200026): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:499096)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:499096)
- 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:499096)
- Papilledema (HP:0001085): Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:499096)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:499096)
- Marcus Gunn pupil (HP:0200057): An aberrant pupillary response characterized by (i) Constriction of pupils of both eyes when the light stimulus is applied to the normal eye, and (ii) Dilatation of pupils of both eyes when the light stimulus is rapidly transferred from the normal eye (after brief light exposure to the normal eye) to the affected eye. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:499096)
- Photopsia (HP:0030786): Perceived flashes of light. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:499096)
These phenotypes are associated with the disease Isolated optic neuritis (ORPHA:499096).
The following phenotypes are NOT associated with this disease:
- Anti-aquaporin 4 antibody positivity (HP:0033342): The presence of autoantibodies (immunoglobulins) in the serum that react against aquaporin-4. Evidence: TAS. (ORPHA:499096)