Albinism and Albinism Treatment: What You Need To Know

What is Albinism?

Albinism refers to a group of genetically inherited disorders where people produce little or no melanin, the substance responsible for the pigmentation of skin, hair, and eyes. It is a condition caused by the mutation of several different genes, and is inherited in an autosomal recessive way. Read on to learn more about albinism sources and albinism treatment.

Patients experience discoloration of their skin, hair, and eyes as symptoms. However, melanin is also important in the development of the optical nerves, so the condition may impair the patients’ vision. The lack of melanin also means that patients are at risk for developing skin cancers such as melanoma.

Types of Albinism

There are different types of Albinism:

Ocular Albinism

This type affects the eyes. This uncommon form of albinism almost exclusively affects male patients. This type of albinism is commonly due to an inherited gene mutation in the X-chromosome.

Oculocutaneous Albinism (OCA)

This is the most common type of albinism. It affects both the patient’s eyesight as well as their skin, hair, and eye pigmentation.

This type is passed on through autosomal recessive inheritance and is due to a mutation of 7 genes (OCA1 to OCA7).

Rare hereditary syndromes

Albinism may appear with other conditions. These include the ff:

• Hermansky-Pudlak syndrome – OCA occurs along with bleeding abnormalities and lung and bowel diseases.
• Chediak-Higashi syndrome – OCA occurs along with immune conditions, causing recurrent infections, neurologic abnormalities and several other serious complications.

Signs and Symptoms: Do You Need Albinism Treatment?

Patients may experience symptoms that affect their skin, hair, eye color, and vision.

Skin and Hair

Patients may present with hair that looks bleached (white), with light-colored skin that may range from white to brown. When exposed to the UV rays of the sun, these patients may develop freckles, moles, sunspots, and sunburns.

Eye Color

The eyelashes and eyebrows of these patients are typically pale. Eye color can vary, from light blue to brown, with the possibility of changing as the patient ages.

Vision

Patients may experience various types of vision impairment, this includes any of the following:

• Regular horizontal oscillation of the eyes (nystagmus). As a result, the head may tilt or bob in order to stabilize involuntary eye movements.
• Inability of the eyes to align with each other when focusing on an object (strabismus)
• Light sensitivity (photophobia)
• Refractive errors such as nearsightedness or farsightedness
• Astigmatism
• Legal blindness
• Poor depth perception

Diagnosis of Albinism

The diagnosis of albinism is usually done at birth, with the physical appearance of the baby. Your clinician may also inspect the child’s skin, hair and eyes more thoroughly in order to confirm the diagnosis.

Electrodiagnostic tests may also help with diagnosis. These tests determine the connection of the ocular nerves to the vision center of the brain, since albinism typically causes misrouting of the optic nerve.

Risks Associated with Albinism

Aside from visual impairment, there are few complications that are typically associated with this condition. One important complication however is skin cancer. Normally, the melanin in your skin protects you from damage due to ultraviolet radiation. It is recommended that patients with albinism practice vigorous sun protection when going out in order to prevent this from occurring.

Albinism Treatment

There is no known cure for albinism, only treatments for the effects of the condition.

Patients can manage visual problems with regular follow-up exams with an ophthalmologist. Those with visual refractive errors can use prescription glasses. In very rare cases, surgery may be indicated.

The most important part of managing this condition is preventing the development of skin cancer. People with albinism can avoid prolonged sun exposure, use sunscreen with an SPF rating of 30 or higher, wear clothes that cover most of the skin when going out, and use UV protective sunglasses. Finally, it is important that these patients see a dermatologist regularly in order to screen for skin cancer.

Key Takeaway

Albinism is a hereditary condition that causes a decrease or absence of melanin.  Its symptoms and complications are related to this. Patients should take regular precautions to avoid skin cancer and should regularly see their dermatologist and ophthalmologist to monitor their condition.

Learn more about Other Skin Diseases here.