Phenotypes associated with the disease Acute zonal occult outer retinopathy (ORPHA:284454):
- Abnormality of refraction (HP:0000539): An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284454)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284454)
- Scotoma (HP:0000575): A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284454)
- Blurred vision (HP:0000622): Lack of sharpness of vision resulting in the inability to see fine detail. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284454)
- Visual field defect (HP:0001123). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284454)
- Constriction of peripheral visual field (HP:0001133): An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284454)
- Abnormal fundus fluorescein angiography (HP:0030604): An abnormality observed by retinal fluorescein angiography, which involves the intravenous injection of fluorescein dye followed by fluorescent imaging of the fundus immediately after injection and for up to ten minutes thereafter. It can be used to study various retinal abnormalities including especially anomalies of the choroidal and retinal circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284454)
- Blind-spot enlargement (HP:0030644). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284454)
- Photopsia (HP:0030786): Perceived flashes of light. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284454)
- 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:284454)
- Rod-cone dystrophy (HP:0000510): An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284454)
- 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:284454)
- Pigmentary retinopathy (HP:0000580): An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284454)
- Central scotoma (HP:0000603): An area of depressed vision located at the point of fixation and that interferes with central vision. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284454)
- Reduced visual acuity (HP:0007663). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284454)
- Retinal pigment epithelial atrophy (HP:0007722): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284454)
- Retinal pigment epithelial mottling (HP:0007814): Mottling (spots or blotches of different shades) of the retinal pigment epithelium, i.e., localized or generalized fundus pigment granularity associated with processes at the level of the retinal pigment epithelium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284454)
- Vitritis (HP:0011531): Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284454)
- Hemianopia (HP:0012377): Partial or complete loss of vision in one half of the visual field of one or both eyes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284454)
- Vitreous inflammatory cells (HP:0030662): The presence of inflammatory cells such as lymphocytes and macrophages in the vitreous. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284454)
- 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: Very rare (HP:0040284). (ORPHA:284454)
- Abnormal choroid morphology (HP:0000610): Any structural abnormality of the choroid (the posterior part of the uvea, the middle tunic of the eye, consisting mainly of blood vessels). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:284454)
- Abnormal retinal vascular morphology (HP:0008046): A structural abnormality of retinal vasculature. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:284454)
- Macular drusen (HP:0030499): Drusen localted in the macula. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:284454)