Inheritance: autosomal recessive
Genetic locus: OCA2 (P gene)
Most affected patients are from Africa or are Afro-Americans.
Clinical findings in the skin and hair:
(1) The hair is pigmented at birth.
(2) The hair color may range from yellow to blond to brown to red.
(3) The hair may darken with age but the color does not change.
(4) The color of scalp and eyelash hairs are the same.
(5) The skin is hypopigmented with the color ranging from white to brown.
(6) The patient will not tan on sun exposure.
(7) Pigmented nevi and freckles may be present, especially in sun-exposed areas.
Ocular changes:
(1) The iris is colored blue/tan.
(2) The iris shows mild to marked translucency.
(3) Nystagmus may be present.
(4) Visual acuity is usually deceased.
(5) Retinal pigment may range from absent to being present in moderate amounts.
(6) Foveal hypoplasia is present.
(7) Optic nerve misrouting may be present.
(8) Strabismus may be present.
The diagnosis can be confirmed by mutation or sequence analysis.
The patients usually have a normal lifespan.
