Causes of Albinism
Albinism is caused by mutations in specific genes that are responsible for producing or distributing melanin in the body. These genetic mutations disrupt the normal function of an enzyme called tyrosinase, which plays a key role in melanin production. Without this enzyme or when it functions poorly. Melanin cannot be produced at typical levels — leading to the characteristic lack of pigmentation seen in albinism.
The most common type of albinism, oculocutaneous albinism (OCA), has multiple subtypes (OCA1 through OCA7). Each associated with different genes and levels of pigment loss. The OCA2 gene, for example, is the most frequently affected in people of African descent, including in South Africa.
Ocular Albinism
In ocular albinism, the mutations primarily impact the eyes, particularly the retina and optic nerves. Leading to vision issues without necessarily affecting skin or hair colour.
The condition follows an autosomal recessive inheritance pattern. This means both biological parents must carry a faulty gene and pass it on for the child to be born with albinism. If only one parent carries the gene, the child will be a carrier but will not show symptoms.
In some rare cases, albinism may be part of a syndrome. Such as Hermansky-Pudlak Syndrome (HPS) or Chediak-Higashi Syndrome (CHS), which include additional health concerns like bleeding disorders or immune system problems.
Causes of Albinism
Environmental factors do not cause albinism. It is purely genetic, and no lifestyle, diet, or exposure during pregnancy can trigger it. This is important to clarify, especially in areas where stigma might cause people to falsely attribute the condition to curses, punishment, or unnatural causes.
Understanding the genetic root of albinism helps debunk these myths and supports early diagnosis and family counselling, especially for parents planning future pregnancies.
Learn more about the Diagnosis by following the link below.
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