Ocular albinism type 1

Ocular Albinism Type 1 (OA1) is a genetic condition that primarily affects the eyes. This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision.

Symptoms

OA1 is characterized by severely impaired sharpness of vision (visual acuity) and problems with combining vision from both eyes to perceive depth (stereoscopic vision). Although the vision loss is permanent, it does not worsen over time. Other eye abnormalities associated with this condition include rapid, involuntary eye movements (Nystagmus); eyes that do not look in the same direction (Strabismus); and increased sensitivity to light (Photophobia).

Causes

OA1 is caused by mutations in the GPR143 gene. This gene provides instructions for making a protein that is involved in the maturation of pigment-producing cells (melanocytes). Mutations in the GPR143 gene disrupt the normal development and function of melanocytes in the eyes, leading to the vision problems characteristic of ocular albinism type 1.

Diagnosis

Diagnosis of OA1 is based on clinical findings and can be confirmed by molecular genetic testing of the GPR143 gene.

Treatment

There is currently no cure for OA1. Treatment is supportive and may include use of visual aids, prescription glasses, and management of nystagmus and strabismus.

Epidemiology

OA1 primarily affects males. The condition is estimated to affect 1 in 50,000 people worldwide.

See also

• Albinism
• Genetic disorder
• Eye disorder

References

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