GTR Home > Conditions/Phenotypes > Tyrosinase-negative oculocutaneous albinism

Summary

Excerpted from the GeneReview: Oculocutaneous Albinism Type 1
Oculocutaneous albinism type 1 (OCA1) is characterized by hypopigmentation of the skin and hair and the distinctive ocular changes found in all types of albinism, including: nystagmus; reduced iris pigment with iris translucency; reduced retinal pigment with visualization of the choroidal blood vessels on ophthalmoscopic examination; foveal hypoplasia with substantial reduction in visual acuity, usually in the range of 20/100 to 20/400; and misrouting of the optic nerve fiber radiations at the chiasm, resulting in strabismus, reduced stereoscopic vision, and altered visually evoked potentials (VEP). Individuals with OCA1A have white hair, white skin that does not tan, and fully translucent irides, none of which darken with age. At birth, individuals with OCA1B have white or very light yellow hair that darkens minimally with age, white skin that over time develops some minimal generalized pigment and may tan slightly with judicious sun exposure, and blue irides that darken to green/hazel or light brown/tan with age, although transillumination defects persist. Visual acuity may be 20/60 or better in some eyes.

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41 tests are in the database for this condition.

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  • Also known as: ATN, CMM8, OCA1, OCA1A, OCAIA, SHEP3, TYR
    Summary: tyrosinase

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