- 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:79432)
- 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: Frequent (HP:0040282). (ORPHA:79432)
- Blue irides (HP:0000635): A markedly blue coloration of the iris. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79432)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79432)
- Hypopigmentation of the skin (HP:0001010): A reduction of skin color related to a decrease in melanin production and deposition. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79432)
- Heterochromia iridis (HP:0001100): Heterochromia iridis is a difference in the color of the iris in the two eyes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79432)
- Freckling (HP:0001480): The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79432)
- White eyebrow (HP:0002226): White color (lack of pigmentation) of the eyebrow. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79432)
- Hypopigmentation of hair (HP:0005599). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79432)
- Reduced visual acuity (HP:0007663). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79432)
- Abnormal retinal pigmentation (HP:0007703): Any deviation from the normal pigmentation of the retina. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79432)
- Iris hypopigmentation (HP:0007730): An abnormal reduction in the amount of pigmentation of the iris. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79432)
- Hypoplasia of the fovea (HP:0007750): Underdevelopment of the fovea centralis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79432)
- Macular hypopigmentation (HP:0007988): Decreased amount of pigmentation in the macula. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79432)
- White hair (HP:0011364): Hypopigmented hair that appears white. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79432)
- 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: Frequent (HP:0040282). (ORPHA:79432)
- 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: Frequent (HP:0040282). (ORPHA:79432)
- White eyelashes (HP:0002227): White color (lack of pigmentation) of the eyelashes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79432)
- Basal cell carcinoma (HP:0002671): The presence of a basal cell carcinoma of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79432)
- Squamous cell carcinoma of the skin (HP:0006739): Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79432)
- Cutaneous melanoma (HP:0012056): The presence of a melanoma of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79432)
- Posterior staphyloma (HP:0030856): A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79432)
- Absent skin pigmentation (HP:0200098): Lack of skin pigmentation (coloring). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79432)
- Hyperpigmented nevi (HP:0007481). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79432)
These phenotypes are associated with the disease Oculocutaneous albinism type 2 (ORPHA:79432).