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Albinism is a rare, genetically inherited condition characterized by a lack or reduction of melanin pigment in the skin, hair, and eyes. This condition affects people of all races and ethnic backgrounds and can result in various physical and visual challenges. While often misunderstood, albinism has a clear biological basis rooted in genetics.
Albinism is primarily caused by mutations in one of several genes responsible for the production and distribution of melanin—a natural pigment that gives color to the skin, hair, and eyes. These mutations impair the body’s ability to produce adequate amounts of melanin or disrupt its transport and distribution.
The most common types of albinism include:
1.Oculocutaneous Albinism (OCA)
This form affects the eyes, skin, and hair. It is typically inherited in an autosomal recessive pattern, meaning a person must inherit two copies of the defective gene (one from each parent) to develop the condition. Several subtypes of OCA exist, each caused by mutations in different genes, such as TYR, OCA2, TYRP1, and SLC45A2.
2.Ocular Albinism (OA)
This type primarily affects the eyes, with minimal or no impact on skin or hair pigmentation. The most common form is X-linked ocular albinism, which typically affects males more severely due to its location on the X chromosome.
In most cases, albinism is inherited in an autosomal recessive manner. This means:
-Both parents are usually carriers of one defective gene.
-They typically do not show signs of the condition.
-If both pass the defective gene to their child, the child will have albinism.
-Each child born to two carrier parents has a 25% chance of having the condition.
For X-linked ocular albinism, the inheritance pattern is different. Mothers who carry the gene on one of their X chromosomes have a 50% chance of passing it to their sons, who may be affected, and a 50% chance of passing it to their daughters, who may be carriers.
Melanin plays a critical role not only in pigmentation but also in protecting the skin and eyes from the harmful effects of ultraviolet (UV) radiation. In individuals with albinism, the lack of melanin results in:
-Very light or white skin and hair
-Pale or light-colored eyes, often blue or gray
-Increased sensitivity to sunlight and a higher risk of sunburn
-Vision problems, including reduced visual acuity, nystagmus (involuntary eye movement), and photophobia (light sensitivity)
Albinism is a genetically inherited condition caused by mutations in genes responsible for melanin production. It is not contagious or caused by external factors, and its occurrence is determined by well-understood genetic principles. While individuals with albinism face unique challenges, especially related to vision and sun exposure, increased awareness, access to medical care, and social inclusion can significantly improve their quality of life.
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