Oculocutaneous albinism type 1

Definition

Oculocutaneous albinism type 1 is a condition that affects the coloring of the skin, hair, and eyes.

Alternate names

• OCA1;
• Oculocutaneous albinism type 1A;
• OCA1A

Albinisitic man portrait

Signs and symptoms

Signs and symptoms include very fair skin, white hair, an increased risk for skin damage with sun exposure, reduced vision (sharpness), light colored irises, and photophobia.

Cause

It is caused by changes in the TYR gene

Common symptoms

80%-99% of people have these symptoms

• Abnormal morphology of the choroidal vasculature

• Abnormality of visual evoked potentials

• Blue irides

• Cutaneous photosensitivity

• Depigmented fundus

• Generalized hypopigmentation

• Generalized hypopigmentation of hair

• Hypoplasia of the fovea

• Iris hypopigmentation

• Iris transillumination defect

• Nystagmus

• Optic nerve misrouting

• Photophobia

Less common symptoms

30%-79% of people have these symptoms

• Amblyopia

• Strabismus

• White eyebrow

• White eyelashes

5%-29% of people have these symptoms

Thickened skin

1%-4% of people have these symptoms

Actinic keratosis

Rare symptoms

• Absent skin pigmentation

• Albinism

• Astigmatism

• Autosomal recessive inheritance

• Congenital onset

• Exotropia

• Myopia

• Ocular albinism

• Reduced visual acuity

• White hair

Inheritance

It is inherited in an autosomal recessive pattern.

Diagnosis

Diagnosis is through a careful and detailed history, including family history, clinical examination and genetic testing to demonstrate changes in the TYR gene

Chromosome

The mutated gene, TYR gene is on chromosome 11.

Treatment

There is no cure and treatment is supportive and is based on the patient's presentation.

Oculocutaneous albinism type 1 Resources
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NIH genetic and rare disease info

• NIH info on Oculocutaneous albinism type 1

Oculocutaneous albinism type 1 is a rare disease.