- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 29/29. (PMID:9529334)
- Nystagmus-induced head nodding (HP:0001361): Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision. Evidence: IEA. (OMIM:300500)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: PCS. Frequency: 29/29. (PMID:9529334)
- Hypoplasia of the fovea (HP:0007750): Underdevelopment of the fovea centralis. Evidence: PCS. Frequency: 29/29. (PMID:9529334)
- Ocular albinism (HP:0001107): An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina. Evidence: PCS. Frequency: 29/29. (PMID:9529334)
- Giant melanosomes in melanocytes (HP:0005592): The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes. Evidence: PCS. Frequency: 10/12. (PMID:9529334)
- 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: IEA. (OMIM:300500)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 29/29. (PMID:9529334)
- X-linked inheritance (HP:0001417): A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. Evidence: PCS. (PMID:9529334)
These phenotypes are associated with the disease X-linked recessive ocular albinism (OMIM:300500).