- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: Frequent (HP:0040282). (OMIM:303700)
- Blue cone monochromacy (HP:0007939): A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. Evidence: PCS. (OMIM:303700)
- X-linked recessive inheritance (HP:0001419): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (OMIM:303700)
- Abnormal macular pigmentation (HP:0008002): Any deviation from the normal, uniform distribution or appearance of pigment within the macular region of the retina. Evidence: PCS. Frequency: Occasional (HP:0040283). (OMIM:303700)
- Pendular nystagmus (HP:0012043): Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction. Evidence: TAS. (OMIM:303700)
- 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. (OMIM:303700)
- Reduced visual acuity (HP:0007663). Evidence: TAS. (OMIM:303700)
- Visual impairment (HP:0000505): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: PCS. (OMIM:303700)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: PCS. (OMIM:303700)
These phenotypes are associated with the disease blue cone monochromacy (OMIM:303700).