Oculocutaneous Albinism
Oculocutaneous Albinism
Oculocutaneous albinism (OCA) is a group of genetic conditions characterised by reduced or absent melanin pigment in the skin, hair, and eyes. It leads to very light skin and hair, increased sun sensitivity, and visual impairment.
Types and Genetics
There are several types (OCA1–OCA7), caused by mutations in different genes (e.g., TYR, OCA2, SLC45A2, SLC24A5). Inheritance is autosomal recessive. OCA is more common in certain populations (e.g., sub-Saharan Africa).
Features
- Pale skin and hair from birth
- Light blue, grey, or brown irises; may appear red in strong light
- Reduced visual acuity, nystagmus, photophobia
- Increased risk of sunburn and skin cancer
Social and Psychological Aspects
People with OCA may face social stigma and discrimination. Supportive environments and sun protection are essential.
Related Disorders
Writing Tips
- Use OCA to explore themes of difference, vulnerability, and adaptation.
- Consider the impact of sun sensitivity and visual impairment on daily life.