Ocular albinism

Ocular albinism
Synonyms
Pronounce	N/A
Specialty	N/A
Symptoms	Reduced visual acuity, nystagmus, photophobia, strabismus, hypopigmentation of the iris and retina
Complications
Onset	Birth
Duration	Lifelong
Types	Ocular albinism type 1 (OA1)
Causes	Genetic mutation in the GPR143 gene
Risks
Diagnosis	Clinical examination, genetic testing
Differential diagnosis	Oculocutaneous albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome
Prevention
Treatment	Vision aids, sunglasses, low vision therapy
Medication
Prognosis	Variable, generally stable vision
Frequency	Rare
Deaths

Ocular albinism 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.

Causes

Ocular albinism is caused by mutations in specific genes, most commonly the GPR143 gene. These mutations disrupt the production of a protein needed for the normal coloring of the skin, hair, and eyes. People with ocular albinism usually have a normal amount of melanin in the skin and hair, but have reduced pigmentation in the eyes, affecting their visual acuity.

Symptoms

The most common symptoms of ocular albinism include nystagmus (involuntary eye movement), strabismus (misalignment of the eyes), photophobia (sensitivity to light), and foveal hypoplasia (underdevelopment of the fovea, which is responsible for sharp central vision).

Diagnosis

Diagnosis of ocular albinism is based on the presence of characteristic eye changes, such as reduced iris pigmentation and foveal hypoplasia. Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for ocular albinism. Treatment is aimed at managing the symptoms and may include the use of glasses or contact lenses to correct vision problems, and measures to protect the eyes from the sun.

See also

• Albinism
• Genetic disorders
• Eye disorders

References

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