Albinism
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Introduction[edit | edit source]
Albinism, a latin word albus that means "white" is a genetic condition characterized by a lack of melanin. Melanin is a pigment that gives color to the hair, skin and eyes. It is an inherited when an individual receives two copies of a recessive gene that causes a lack of melanin production. There are different types of albinism.
- Oculocutaneous Albinism (OCA): This affects the person's skin, hair, and eyes. Due to little or no melanin in these areas, the skin and hair color is very light with blue or violet eyes. OCA is further subdivided into (based on mutations invovled):
- OCA1
- OCA2
- Ocular Albinism (OA): This primarily affects the eye. These individuals may have little or no pigmentation in the iris and retina that leads to vision problem. In OA the skin and hair colour might appear normal.This is associated with issues such as Nystagmus and strabismus.[1]
Relavent anatomy[edit | edit source]
Causes of albinism[edit | edit source]
Clinical Presentation[edit | edit source]
Management/Interventions[edit | edit source]
Current literature[edit | edit source]
- ↑ Marçon CR, Maia M. Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors. Anais brasileiros de dermatologia. 2019 Dec 9;94:503-20.
