Oculocutaneous albinism type 1
Definition[edit | edit source]
Oculocutaneous albinism type 1 is a condition that affects the coloring of the skin, hair, and eyes.
Alternate names[edit | edit source]
- OCA1;
- Oculocutaneous albinism type 1A;
- OCA1A
Signs and symptoms[edit | edit source]
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[edit | edit source]
It is caused by changes in the TYR gene
Common symptoms[edit | edit source]
80%-99% of people have these symptoms
Less common symptoms[edit | edit source]
30%-79% of people have these symptoms
5%-29% of people have these symptoms
1%-4% of people have these symptoms
Rare symptoms[edit | edit source]
- Absent skin pigmentation
- Reduced visual acuity
Inheritance[edit | edit source]
It is inherited in an autosomal recessive pattern.
Diagnosis[edit | edit source]
Diagnosis is through a careful and detailed history, including family history, clinical examination and genetic testing to demonstrate changes in the TYR gene
Chromosome[edit | edit source]
The mutated gene, TYR gene is on chromosome 11.
Treatment[edit | edit source]
There is no cure and treatment is supportive and is based on the patient's presentation.
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NIH genetic and rare disease info[edit source]
Oculocutaneous albinism type 1 is a rare disease.
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