Phenotypes associated with the disease Oculocutaneous albinism type 1 (ORPHA:352731):
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:352731)
- Blue irides (HP:0000635): A markedly blue coloration of the iris. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:352731)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:352731)
- 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: Very frequent (HP:0040281). (ORPHA:352731)
- Cutaneous photosensitivity (HP:0000992): An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:352731)
- Generalized hypopigmentation (HP:0007513). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:352731)
- Reduced visual acuity (HP:0007663). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:352731)
- Fundus hypopigmentation (HP:0007894): Generalized or focal reduced pigmentation of the fundus, evaluated in the context of skin and hair color. Fundoscopy may reveal a low level pigment. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:352731)
- Iris hypopigmentation (HP:0007730): An abnormal reduction in the amount of pigmentation of the iris. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:352731)
- Hypoplasia of the fovea (HP:0007750): Underdevelopment of the fovea centralis. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:352731)
- Generalized hypopigmentation of hair (HP:0011358): Reduced pigmentation of hair diffusely. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:352731)
- Iris transillumination defect (HP:0012805): Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:352731)
- Optic nerve misrouting (HP:0025551): Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:352731)
- 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 frequent (HP:0040281). (ORPHA:352731)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:352731)
- Amblyopia (HP:0000646): Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:352731)
- White eyebrow (HP:0002226): White color (lack of pigmentation) of the eyebrow. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:352731)
- White eyelashes (HP:0002227): White color (lack of pigmentation) of the eyelashes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:352731)
- Thickened skin (HP:0001072): Laminar thickening of skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:352731)
- Neoplasm of the skin (HP:0008069): A tumor (abnormal growth of tissue) of the skin. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:352731)
- Actinic keratosis (HP:0025127): A scaly, crusty lesion caused by damage from the ultraviolet radiation of the sun, with typical location on sun-exposed areas of the skin. Actinic keratosis lesions are often elevated, rough, and wartlike, and may be red, or occasionally tan, pink, or flesh-toned in color. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:352731)