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

• Oculocutaneous Albinism Type 1A (OCA1A)
• Oculocutaneous Albinism Type 1B (OCA1B)
• Tyrosinase-Negative Oculocutaneous Albinism

What is Oculocutaneous Albinism Type 1? (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 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

Who gets Oculocutaneous Albinism Type 1? (Age and Sex Distribution)

• Oculocutaneous Albinism type 1 shows a worldwide prevalence of 1: 40,000
• The onset of symptoms may occur at birth
• Both genders are affected by OCA and no gender preference is generally noted
• Worldwide, individuals of all races and ethnicities are affected

What are the Risk Factors for Oculocutaneous Albinism Type 1? (Predisposing Factors)

• A positive family history may be an important risk factor, since Oculocutaneous Albinism Type 1 can be inherited
• Children of consanguineous parents may bear an increased risk of developing this disorder
• Presently, no other specific risk factors pertaining to the disorder is known

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 1? (Etiology)

• Oculocutaneous Albinism Type 1 (OCA1) is caused by mutation(s) in the TYR gene that is inherited in an autosomal recessive manner
• OCA1 results from a mutation in the gene coding for the enzyme tyrosinase, which catalyzes conversion of the amino acid tyrosine to melanin. There are two sub-forms of OCA1:
  • OCA1A - it is characterized by the absence of tyrosinase 
  • OCA1B - in which individuals produce low amounts of the enzyme 

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 1?

The signs and symptoms of Oculocutaneous Albinism Type 1 (OCA1) may vary between the affected individuals and may be mild or severe. The signs and symptoms of OCA1 may include:

• Pale white, yellow, or lighter than normal color of skin
• White or yellowish hair
• Skin patches (albinism)
• Pale blue iris (eye)
• Decreased visual acuity
• Blurred vision
• Sensitivity of eyes to light
• Strabismus (misalignment of pupils)
• Nystagmus (involuntary small eye movements)
• Lack of binocular vision (double vision

How is Oculocutaneous Albinism Type 1 Diagnosed?

Oculocutaneous Albinism Type 1 is diagnosed on the basis of the following tests and exams:

• Complete physical examination and evaluation of family medical history
• A visual assessment of pigmentation in hair, skin, and eyes of the affected 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
• Molecular genetic testing to check for or confirm causative gene mutation(s)

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 1?

Oculocutaneous Albinism Type 1 can lead to complications such as:

• Extreme sensitivity of eyes and skin to light
• Severe sunburns with exposure to sun
• Skin cancer 
• Vision defects
• Social isolation due to skin color change
• Vision loss that may affect the quality of life
• Cosmetic concerns

How is Oculocutaneous Albinism Type 1 Treated?

There is no cure for Oculocutaneous Albinism Type 1 since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develop. The following treatment methods may be recommended:

• For skin protection: Use of sunscreens with a high SPF (sun protection factor) 
• 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

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

How can Oculocutaneous Albinism Type 1 be Prevented?

Oculocutaneous Albinism Type 1 is a genetic disorder, and currently, there are no specific methods or guidelines to prevent this disorder.

• 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.

What is the Prognosis of Oculocutaneous Albinism Type 1? (Outcomes/Resolutions)

The prognosis of Oculocutaneous Albinism Type 1 (OCA1) is generally good; most of the affected individuals reportedly 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 1. However, with early diagnoses and prompt treatments, the outcomes are generally positive

Additional and Relevant Useful Information for Oculocutaneous Albinism Type 1:

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

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