Albinism

Albinism (from the Latin albus, meaning “white”) is a rare group of genetic disorders that cause the skin, hair, or eyes to have little or no color. Albinism is also associated with vision problems. Most people with albinism have pale skin, eye conditions, and are sensitive to the sun.

Causes

A defect in one of several genes that produce or distribute melanin causes albinism. The defect may result in the absence of melanin production, or a reduced amount of melanin production. The defective gene passes down from both parents to the child and leads to albinism.

Symptoms

an absence of color in the hair, skin, or eyes lighter than normal coloring of the hair, skin, or eyes patches of skin that have an absence of color.
Albinism occurs with vision problems, which may include: strabismus (crossed eyes) photophobia (sensitivity to light) nystagmus (involuntary rapid eye movements) impaired vision or blindness astigmatism

Treatment

There’s no cure for albinism. However, treatment can relieve symptoms and prevent sun damage. Treatment may include: sunglasses to protect the eyes from the sun’s ultraviolet (UV) rays protective clothing and sunscreen to protect the skin from UV rays

Sequela

This condition increases the risk of skin cancer. Albinism affects vision. Changes to eye function can include: Nystagmus: The eyes move rapidly and uncontrollably back and forth. Strabismus: The eyes do not function in unison. Amblyopia: Also referred to as a “lazy eye.” Myopia or hypermetropia: The person may have extreme nearsightedness or farsightedness. Photophobia: The eyes are particularly sensitive to light. Optic nerve hypoplasia: Visual impairment may result from an underdeveloped optic nerve. Optic nerve misrouting: Nerve signals from the retina to the brain follow unusual nerve routes. Astigmatism: An abnormal inflexibility of the front surface of the eye or lens results in blurred vision.

Affected Groups

Albinism is an inherited disorder that’s present at birth. Children are at risk of being born with albinism if they have parents with albinism, or parents who carry the gene for albinism.

Prevention

There is no way to prevent albinism

Epidemiology

There are two major types of albinism, ocular albinism (OA) and oculo-cutaneous albinism (OCA). While OA is quite rare and affects mainly the eyes, OCA also affects skin and hair. Several other subtypes have also been categorized based on different inheritance patterns and genetic triggers. OCA is inherited in the autosomal recessive form. Parents of a patient with OCA are asymptomatic carriers, each possessing one defective copy of the affected gene (such as the GPR143 gene). There exists a 50% probability in each pregnancy that any child born to such parents will be a dormant carrier of the disease (just like the parents), a 25% probability that the offspring will be born without any defect in the said gene, and a 25% probability that the child will be born with OCA symptoms.
Unlike OCA, OA is usually passed on via an X-linked inheritance pattern, which means that it affects the genders differently. Because males have only one X chromosome, the mutation of a gene on the single X chromosome in a male leads to the manifestation of definitive signs and symptoms of OA. On the other hand, a female with a mutated copy of a gene on one of the two X chromosomes may still manage to have normal vision because of the normally functioning copy of the gene on the other X chromosome.

History

Albinism wasn't discovered until the 1800s but it is believed that Annaliese, Mitzi, and Adelhid are albino.

Cultural Reception

Usually, no one can notice if someone is Albino in Sutverold. However, anyone with a genetic disease is seen as cursed and will often be feared or ridiculed for it.

Type

Genetic

Origin

Natural

Cycle

Chronic, Congenital

Rarity

Extremely Rare