Albinism is a rare, inherited genetic condition that reduces or completely prevents the production of melanin, the pigment responsible for skin, hair, and eye colour. It affects how the body develops pigmentation and can also affect vision because melanin plays an essential role in eye development. People with albinism may have very light skin and hair, making them more vulnerable to sun damage and certain ocular complications. While it is a lifelong condition, proper sun protection, regular skin checks, and consistent vision care can help individuals manage symptoms effectively and maintain a healthier quality of life.
Also Known As
- Oculocutaneous albinism (OCA)
- Ocular albinism (OA)
- Hypopigmentation disorders
- Inherited pigmentation deficiency.
Causes
Albinism develops due to inherited mutations in genes that control melanin production, such as TYR or OCA2. These mutations disrupt pigment formation, leading to significantly reduced or absent colouring in the skin, hair, and eyes.
Melanin production disruption
Specific gene alteration interferes with the enzymes required to create melanin. When these enzymes malfunction, pigment levels drop, contributing to lighter physical features and associated vision issues.
Autosomal recessive inheritance
Most albinism types follow an autosomal recessive pattern, meaning a child must inherit two copies of the mutated gene, one from each parent. Parents may be carriers without showing symptoms, yet still pass on the condition.
Impaired pigment distribution
In some variants, the body produces a small amount of melanin but fails to distribute it correctly to cells. This results in uneven pigmentation and contributes to eye disorders linked to albinism.
Ocular development abnormalities
Insufficient melanin during early development affects the retina and optic nerves, leading to reduced visual acuity, depth-perception issues, and light sensitivity in affected individuals.
Rare chromosomal changes may impact genes tied to melanin pathways. These abnormalities can result in syndromic forms of albinism that appear alongside additional health or developmental conditions.
Common Symptoms
Very fair skin: Skin appears much lighter than family members and burns easily due to minimal melanin, increasing susceptibility to sun damage.
Light-coloured hair: Hair may look white, pale yellow, or very light blonde from birth, reflecting reduced melanin levels.
Vision problems: Issues like blurred vision, refractive errors, or poor depth perception occur because melanin is vital for normal eye development.
Photophobia: Bright light causes discomfort due to increased light sensitivity, often requiring sunglasses or tinted lenses.
Nystagmus: Involuntary eye movements can affect focus and make it difficult to stabilize vision.
Reduced eye pigmentation: Light or translucent irises appear blue, gray, or pinkish, causing light scattering and reduced sharpness.
Who It Affects
Albinism affects individuals of all genders, ethnicities, and regions worldwide, regardless of race or family background.
When to see a dermatologist
Schedule a dermatology visit if you experience frequent sunburns, unusual skin changes, or difficulty managing light sensitivity. Dermatologists can guide sun-safe practices, monitor skin health, and collaborate with eye specialists to provide comprehensive care for individuals with albinism.
