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Albinism

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Albinism
Artist: ide
Artwork Description:
Silver hair and red eyes reflect tyrosinase deficiency causing disrupted melanin synthesis. Light and shadow emphasize photosensitivity and vision issues, expressing both unique beauty and the sensitivity of those living with albinism.

Disease Introduction:
Albinism
Type: Genetic / Dermatological / Ophthalmologic disorder
Affected Areas: Skin, hair, and eyes (especially retina and visual pathways)


Symptoms:
Extremely light or absent pigmentation in skin, hair, and eyes. Light-colored irises that may appear semi-translucent with visible blood vessels. Visual impairments including reduced visual acuity, nystagmus, strabismus, photophobia, and foveal hypoplasia leading to poor central vision. Skin burns easily and may develop freckles or lesions even with minimal sun exposure. People with albinism are at high risk of actinic keratosis and skin cancer. Despite physical challenges, intelligence and lifespan are normal.
Cause / Risk Factors:
Mutations in genes responsible for melanin production, including TYR, OCA2, TYRP1, and SLC45A2. Most types follow an autosomal recessive inheritance pattern, meaning both parents must carry a mutated gene. Oculocutaneous albinism affects skin and eyes, while ocular albinism primarily affects the eyes only.

Treatments:
There is no cure, but effective management can protect vision and skin health.
Ophthalmologic care includes corrective lenses to improve visual acuity, tinted glasses for light sensitivity, and possible surgery for strabismus or nystagmus.
Dermatologic protection is essential — use of high-SPF sunscreen, UV-protective clothing, wide-brimmed hats, and avoiding sun exposure at peak hours.
Regular skin cancer screenings by dermatologists are strongly recommended.
Genetic counseling helps families understand inheritance patterns and recurrence risk.

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