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Oculocutaneous Albinism

Oculocutaneous Albinism



Overview

Oculocutaneous albinism (OCA) is a rare genetic disorder that affects the color of your eyes, skin and hair. Having albinism means your body can’t produce and/or distribute a key pigment, melanin. Melanin is what gives your eyes, skin and hair their color, so your skin, hair and eyes may have much lighter coloration than expected. Not having enough melanin is also a major issue because your eyes need it to work correctly.

Because oculocutaneous albinism can affect your appearance, it’s understandable to feel self-conscious about having it. And some of the effects of OCA can disrupt how your eyes work. That can be frustrating or even frightening. But there are treatments that may help limit the eye symptoms and effects of this disease.

Symptoms

OCA has many possible symptoms you can experience or see. It also has several clinical signs, which are differences or changes that a trained medical professional can find with specific methods or tests.

Hair and skin appearance

The most visible symptoms of OCA are color differences in your hair and skin. People with oculocutaneous albinism often have:

Hair differences. People with OCA often have white or blond/yellow hair, especially early in life. It may develop more color during childhood or early adulthood. You might also have white or light-colored eyelashes or body hair.

Skin differences. Depending on the OCA subtype you have, your skin may be pale. Some people will have skin that seems partly translucent (meaning it looks thinner or easier to see through). Some people may have skin that doesn’t tan earlier in life but develops some tanning ability when they’re adults.

Eye signs and symptoms

Oculocutaneous albinism can cause very noticeable differences or changes in your eye color. If you have OCA, you may have light blue/pale gray irises. When light shines on your eyes, your irises may appear pink or red. These colors may also change during your lifetime. Brown irises are still possible with some subtypes of OCA.

Other possible, eye-specific signs of oculocutaneous albinism you might notice include:

Vision issues, like blurred vision, double vision or low vision

Sensitivity to light (photophobia)

Differences in how your eyes work together, like eye misalignment (strabismus) and binocular vision dysfunction

Rapid, repetitive, uncontrolled eye movements (nystagmus)

Changes in the shape of your eye that make your vision blurry (refractive errors)

There are other signs of OCA that your eye care provider may see during a vision exam. For example:

Your irises may be thin enough for light to shine through them during an eye exam

There may be differences in the shape of your retinas that can affect how they work

You’re more likely to have differences in the structure of the optic nerve connections that link your eyes and brain, which may affect the way your brain processes visual signals and the way you see the world

Other possible symptoms

Some types of oculocutaneous albinism or conditions that can cause it can also cause other specific symptoms and effects. A few examples include:

Intellectual disabilities

Height differences

Muscle control issues or movement disorders

Most of these other symptoms happen with rarer types of OCA. Your healthcare provider is the best source of information about the symptoms you (or a child you care for) may experience.

Oculocutaneous albinism causes

OCA happens when a gene (DNA) change (mutation) affects how melanin works in your body. So, it’s a genetic condition that’s either:

Passed on (inherited) from your biological parents. Most cases of OCA are from inherited mutations. These mutations are always autosomal recessive. That means both of your biological parents must have and pass the mutation to you for you to have the disorder.

Spontaneous changes that happen early in development. Experts don’t know why these changes happen and can’t predict them. You don’t inherit them from a biological parent.

Complications of OCA

Melanin is a protective pigment. Your body makes it to absorb ultraviolet (UV) radiation from the sun, which is why sun/UV exposure causes tanning in people without albinism. UV rays damage the DNA in your skin cells. That damage increases your risk of those cells malfunctioning and turning into different forms of skin cancer, especially basal cell carcinoma and squamous cell carcinoma. And UV damage adds up, so the more damage you have, the greater your chances of developing cancer.

Diagnosis

A healthcare provider may suspect oculocutaneous albinism because of visible differences in the color of your skin, hair or eyes. This often happens very early in life, with pediatricians or other child-focused providers doing the initial work to diagnose this condition. Healthcare providers can use a combination of methods to confirm and diagnose OCA, including the specific type and subtype you have.

Methods that may play a role in diagnosing oculocutaneous albinism include:

Physical examination

Blood tests

Eye exam

Genetic testing

Visual evoked potentials (VEP)

Optical coherence tomography (OCT)

Treatment

There’s no cure for oculocutaneous albinism, but there are a few treatments that might help.

For people with OCA, a key focus is treating related eye conditions, including:

Lazy eye (amblyopia)

Eye misalignment (strabismus)

Refractive errors

Your eye specialist will also likely recommended sunglasses or tinted lenses to help with light sensitivity and protect your eyes from sun exposure.

One medication, nitisinone (Nityr® or Orfadin®), may help people with oculocutaneous albinism type-1. Nitisinone slows how your body breaks down tyrosine, a key amino acid. A research study published in 2019 showed nitisinone helped with pigmentation and eyesight in a group of five adults with oculocutaneous albinism type-1. Researchers also suspect that giving nitisinone earlier in life to people with oculocutaneous albinism type-1 might have even bigger benefits.

Because there are so many variables that can play a role in treatment, your eye care specialist is the best source of information about possible treatments. They can guide and advise you as you choose treatments that will help you (or a child you care for).

Treatment

There’s no cure for oculocutaneous albinism, but there are a few treatments that might help.

For people with OCA, a key focus is treating related eye conditions, including:

Lazy eye (amblyopia)

Eye misalignment (strabismus)

Refractive errors

Your eye specialist will also likely recommended sunglasses or tinted lenses to help with light sensitivity and protect your eyes from sun exposure.

One medication, nitisinone (Nityr® or Orfadin®), may help people with oculocutaneous albinism type-1. Nitisinone slows how your body breaks down tyrosine, a key amino acid. A research study published in 2019 showed nitisinone helped with pigmentation and eyesight in a group of five adults with oculocutaneous albinism type-1. Researchers also suspect that giving nitisinone earlier in life to people with oculocutaneous albinism type-1 might have even bigger benefits.

Because there are so many variables that can play a role in treatment, your eye care specialist is the best source of information about possible treatments. They can guide and advise you as you choose treatments that will help you (or a child you care for).

Type of Doctor Department :A Pediatrician , an Ophthalmologist , a Geneticist , a Dermatologist

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