Clinical Features of Tyrosinase-Deficient Oculocutaneous Albinism (OCA1)

Oculocutaneous Albinism Type 1 (OCA1) is one type of oculocutaneous albinism and is associated with absent or markedly reduced tyrosinase activity.

Inheritance: autosomal recessive

Chromosomal locus: 11q14-q21

Features in common:

(1) hair white at birth (hair in OCA1B may be light yellow at birth)

(2) nystagmus, which may be present at birth or develop during infancy

(3) reduced visual acuity

(4) foveal hypoplasia

(5) optic tract misrouting

(6) normal lifespan

(7) eyes sensitive to light

Features	OCA1A	OCA1B
hair color at maturity	white	light blond to yellow to brown, with eyelash color often darker than scalp hair
skin color	milky white, pink at birth	white
tanning on sun exposure	no	possible
pigmented nevi and freckles	none (nevi are pink and unpigmented)	present
iris color	blue to gray, do not darken with age	blue to brown/tan to green/hazel
translucency of the iris	marked (may appear pink or red depending on lighting)	mild to marked
retinal pigment	absent	absent to moderate

To read more or access our algorithms and calculators, please log in or register.