Tyrosinase-Negative Oculocutaneous Albinism

Eye & Vision

Skin Care

Contributed byLester Fahrner, MD+1 moreDec 10, 2021

The topic Tyrosinase-Negative Oculocutaneous Albinism you are seeking is a synonym, or alternative name, or is closely related to the medical condition Oculocutaneous Albinism Type 1.

Quick Summary:

Oculocutaneous albinism (OCA) is a genetic abnormality characterized by a partial or complete absence of the pigment melanin, which imparts color to the eyes, hair, and skin. There are seven different types of OCA based on the gene mutation causing the condition
Oculocutaneous Albinism Type 1 (OCA1) is one of the most common subtypes of OCA. The condition is inherited in an autosomal recessive manner and caused by mutations on the TYR gene. It is diagnosed on the basis of symptoms, vision exams, and genetic tests, if necessary
Protecting the skin and eyes from sunlight and corrective surgery for vision abnormalities are the main treatment modalities considered for this disorder. Oculocutaneous Albinism Type 1 is a genetic condition that cannot be prevented. However, the prognosis is good in most cases, and the affected individuals are known to lead a normal quality of life

Please find comprehensive information on Oculocutaneous Albinism Type 1 regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

On the Article

Approved by

Krish Tangella MD, MBA

Pathology, Medical Editorial Board, DoveMed Team

Reviewed by

Lester Fahrner, MD

Chief Medical Officer, DoveMed Team

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