Overview

Albinism is a rare genetic condition characterized by a lack of melanin pigment in the skin, hair, and eyes. This results in very light or white skin, pale hair, and vision problems. Albinism affects people of all ethnic backgrounds and occurs worldwide, with varying prevalence in different populations. It is a lifelong condition, but with proper care and protection, individuals with albinism can live healthy and fulfilling lives. Though albinism primarily affects appearance and vision, it can also have social and cultural impacts due to stigma or misunderstanding.

Causes

Albinism is caused by genetic mutations that affect the production of melanin, the pigment responsible for skin, hair, and eye color. It is typically inherited in an autosomal recessive pattern, meaning both parents must carry the defective gene. The main types of albinism include:

• Oculocutaneous Albinism (OCA): Affects the skin, hair, and eyes. There are several subtypes (OCA1, OCA2, OCA3, OCA4) based on the specific gene mutation.
• Ocular Albinism (OA): Primarily affects the eyes, with minimal or no change in skin and hair pigmentation. The most common form is OA1, which is X-linked and occurs mainly in males.
• Hermansky-Pudlak Syndrome (HPS): A rare form that includes albinism along with bleeding disorders and sometimes lung or bowel disease.
• Chediak-Higashi Syndrome: A very rare form associated with immune system problems in addition to albinism features.

Symptoms

Symptoms of albinism vary based on the type and severity but generally include:

• Skin: Very light or pale skin that burns easily in the sun. Some individuals may develop slight pigmentation with age.
• Hair: White or very light blonde hair at birth; hair color may darken slightly with age in some forms of albinism.
• Eyes:
  • Light blue, gray, or even reddish eyes due to low pigmentation.
  • Reduced vision or blindness in severe cases.
  • Photophobia (sensitivity to light).
  • Nystagmus (involuntary eye movements).
  • Strabismus (crossed eyes).
  • Poor depth perception and difficulties with focusing.
• Increased risk of skin cancer: Due to lack of melanin, individuals with albinism are at higher risk for sun damage and skin cancers.

Diagnosis

Diagnosis of albinism is typically based on physical examination, family history, and sometimes genetic testing:

• Physical examination: Visible signs like light skin, hair, and eye color along with vision abnormalities can lead to suspicion.
• Eye examination: Ophthalmologists may conduct tests to assess nystagmus, strabismus, and foveal hypoplasia (underdeveloped central retina), which are common in albinism.
• Electroretinography (ERG): Measures electrical responses of the eye to light and can confirm abnormal retinal function.
• Genetic testing: Identifies mutations in genes responsible for melanin production and helps determine the specific type of albinism.

Treatment

There is no cure for albinism, but management focuses on addressing symptoms and preventing complications:

• Vision care:
  • Prescription glasses or contact lenses to improve vision.
  • Special sunglasses or photochromic lenses to reduce light sensitivity.
  • Regular eye check-ups to monitor vision changes.
• Skin protection:
  • Regular use of broad-spectrum sunscreen with high SPF to prevent sunburn.
  • Protective clothing, hats, and sunglasses when outdoors.
  • Routine skin exams to check for signs of skin damage or cancer.
• Education support: Special accommodations in school like seating closer to the board, large-print materials, and supportive educational services.
• Genetic counseling: Helpful for families to understand inheritance patterns and risk in future pregnancies.
• Psychosocial support: Counseling and support groups can help individuals and families cope with social challenges and stigma associated with albinism.

Prognosis

With proper care and support, individuals with albinism can lead healthy, productive lives. While vision impairment is typically permanent, many people adapt well with the right visual aids and educational adjustments. Skin protection measures can significantly reduce the risk of sun damage and skin cancer.

Albinism does not affect intelligence, though learning difficulties may arise from visual problems. Life expectancy is normal for most individuals, especially when sun safety practices are followed. Early diagnosis, vision care, and social support play key roles in ensuring a good quality of life for people living with albinism.