ALBINISMUS

Overview and Facts

The term albinismus is most often used to describe oculocutaneous albinism (OCA), a group of hereditary disorders wherein melanin pigment is generated poorly or not generated at all. Your body’s type and amount of melanin determine the hair color, skin, and eyes. Moreover, people with albinism suffer visual issues because melanin has a role in forming optic nerves.

 

Albinismus is commonly visible in a person’s hair, skin, and eye color, although minor variances may occur. People with albinism have a greater risk of skin cancer because they are more vulnerable to the sun’s rays.

Types and Symptoms

TYPES

Albinismus is categorized into several types, depending on how it is inherited and which gene’s affected.

  • Oculocutaneous albinism. The most frequent form in which a person has two copies of a mutant gene, one from each parent. This is caused by a mutation in one of seven genes, numbered OCA1 through OCA7.
  • Ocular albinism. Is mainly restricted to the eyes, resulting in visual issues. Type 1 is the most frequent variety caused by a gene mutation on the X chromosome. A woman may pass on X-linked ocular albinism to her kid if she possesses one mutant X gene.
  • Albinism. It may be linked to rare inherited disorders. Hermansky-Pudlak syndrome, for example, comprises a type of OCA, bleeding and bruising issues, and lung and intestinal illnesses.

SYMPTOMS

The following are some of the symptoms of albinism:

  • Skin. Compared to siblings, the most noticeable type of albinism results in white hair and highly light-colored skin.
  • Hair. Albino people of African or Asian origin could have hair that is yellow, reddish, or brown in color.
  • Eye color. The color of your eyes may vary from extremely pale blue to brown and may change as you get older.

Diagnosis & Medications

DIAGNOSIS

The following are used to diagnose albinismus:

  • Physical exam
  • Eye examination
  • Comparison of your kid’s pigmentation
  • Assessment of your child’s health history

Genetic testing can assist in determining the type of albinism and how it is handed down.

TREATMENT

The following are common treatments:

  • Eye care. A yearly eye checkup by an ophthalmologist is required, as is the use of prescription corrective lenses. 
  • Skin cancer prevention and skin care. This involves having a skin examination every year to check for skin cancer or lesions that might develop into cancer.

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