OCA is characterized by the absence of pigmentation caused by the mutation that effects the production of tyrosinase that causes partial or total absence of melanin in the hair, skin, and eyes. Reduction in melanin production specifically in the peripheral retina during embryonic development can trigger other symptoms such as abnormal nerve fiber projection that causes defects in neuronal migration that interrupts visual pathways and creates reduced visual acuity in the range of 20/60 to 20/400. This vision acuity is dependent upon the amount of pigmentation in the eye. Acuity is usually better in individuals with greater amounts of pigment. Aside from decreased pigment in the iris and retina, optic changes include decreased visual acuity, misrouting of the optic nerves at the chiasm, and nystagmus. OCA1 is one of the more extreme types of<unk>  where the iris is translucent and the eye appears pink or red in ambient light and have white skin with slight to no pigmentation when other types may have residual pigmentation. OCA1 is caused by mutations in the TYR gene, where there is a complete lack of tyrosinase activity.
Oculocutaneous albinism type I
Ocular albinism type 1
Ocular albinism
Retinoschisis
Lafora disease
Yemenite deaf-blind hypopigmentation syndrome
Danon disease
Hypohidrotic ectodermal dysplasia