What are the other Names for this Condition? (Also known as/Synonyms)

• Albinoidism
• OCA2 (Oculocutaneous Albinism Type 2)
• Tyrosinase-Positive Oculocutaneous Albinism

What is Oculocutaneous Albinism Type 2? (Definition/Background Information)

• 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 2 (OCA2) is one of the most common subtypes of OCA. The condition is inherited in an autosomal recessive manner and caused by mutations on the OCA2 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 2 is a genetic condition that cannot be prevented. However, the prognosis is good in most cases, and the affected individuals can lead a normal quality of life

Who gets Oculocutaneous Albinism Type 2? (Age and Sex Distribution)

• Oculocutaneous Albinism Type 2 (OCA2) is an inherited disorder, with a worldwide prevalence of 1: 38,000-40,000 in most populations, with the exception of African populations, where the prevalence is higher at approximately 1:5,000 
• The onset of symptoms may occur at birth
• Both genders may be affected by this disorder
• Worldwide, individuals of all races and ethnicities are affected. African-Americans, some native American populations, and individuals from sub-Saharan Africa have a higher susceptibility to OCA2

What are the Risk Factors for Oculocutaneous Albinism Type 2? (Predisposing Factors)

• A positive family history may be an important risk factor, since Oculocutaneous Albinism Type 2 can be inherited
• Children of consanguineous parents may bear an increased risk of developing this disorder

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Oculocutaneous Albinism Type 2? (Etiology)

• Oculocutaneous Albinism Type 2 (OCA2) is caused by mutation(s) in the OCA2 gene that is inherited in an autosomal recessive manner
• OCA2 is caused by defects in the OCA2 gene coding for P protein, which facilitates tyrosinase action. Individuals with OCA2 produce melanin in reduced quantities, resulting in a set of associated symptoms

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Oculocutaneous Albinism Type 2?

The signs and symptoms of Oculocutaneous Albinism Type 2 (OCA2) may vary between the affected individuals. The signs and symptoms of OCA2 may include:

• Pale white, yellow, or lighter than normal color of skin
• Hair of reddish discoloration
• Skin patches (albinism)
• Pale blue iris (eye)
• Decreased visual acuity
• Blurred vision
• Sensitivity of eyes to light
• Nystagmus (irregular and continuous eye movement)
• Astigmatism (formation of distorted images in the retina)
• Strabismus or crossed eyes
• Sun-exposed areas may present freckles

How is Oculocutaneous Albinism Type 2 Diagnosed?

Oculocutaneous Albinism Type 2 is diagnosed on the basis of the following tests and exams:

• A thorough physical examination and evaluation of family medical history
• A visual assessment of pigmentation in hair, skin, and eyes of the affected individual, to reach a preliminary diagnosis of the likely mutation and form of OCA in the individual
• Examination of the eyes for structural abnormalities
• Vision exam
• Visual-evoked potential (VEP) testing in children with visual problems 
• Prenatal genetic testing for checking causative gene mutations in the fetus, if a family history of albinism is present

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Oculocutaneous Albinism Type 2?

Oculocutaneous Albinism Type 2 can lead to complications such as:

• Emotional stress
• Extreme sensitivity of eyes and skin to light
• Severe sunburns with exposure to sun
• Optic nerve abnormalities
• Vision defects
• Skin cancer such as melanoma, basal cell carcinoma, and squamous cell carcinoma
• Social isolation due to skin color change
• Vision loss that may affect the quality of life

How is Oculocutaneous Albinism Type 2 Treated?

There is no cure for Oculocutaneous Albinism Type 2 (OCA2) since it is a genetic condition. The treatment measures for OCA2 generally focus on protecting the skin from sunburns and correcting eye abnormalities. The following may be recommended:

• For skin protection: Use of sunscreens with a high SPF (sun protection factor), protective clothing, and avoiding midday exposure
• For eye abnormalities:

• Visual aids to help low or poor vision
• Tinted glasses to reduce light-sensitivity
• Use of UV-protected sunglasses
• Use of wide-brimmed hats for sunny days

Surgical correction of eye defects, such as strabismus and nystagmus, may be undertaken (if required) following an evaluation by the healthcare provider.

How can Oculocutaneous Albinism Type 2 be Prevented?

Oculocutaneous Albinism Type 2 is a genetic disorder, and presently, there are no specific methods or guidelines to prevent this condition.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Regular medical and vision examinations are highly recommended to monitor changes in skin and visual acuity

Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders such as oculocutaneous albinism (OCA).

What is the Prognosis of Oculocutaneous Albinism Type 2? (Outcomes/Resolutions)

The prognosis of Oculocutaneous Albinism Type 2 (OCA2) is generally good, and most of the affected individuals are reported to have normal life expectancies.

• However, due to light sensitivity of both the eyes and skin, the choice of activities/profession of some individuals may be limited
• There is an increased susceptibility to skin cancers and other malignant melanomas in individuals affected by OCA 2. However, with early diagnoses and prompt treatments, the outcome are generally positive

Additional and Relevant Useful Information for Oculocutaneous Albinism Type 2:

The following DoveMed website link is a useful resource for additional information:

https://www.dovemed.com/healthy-living/skin-disorders/