Albinism

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Introduction

Occulocutaneous Albinism

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
  • OCA3
  • OCA4
    

    Ocular Albinism
• 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.

Sub-Types of Albinism

OCA1	OCA2	OCA3	OCA4
Mutations in TYR Gene Chromosme 11 Tyrosine deficeincy OCA1a: Complete absence of melanin OCA1b: Some melanin present	Mutations in OCA2 Gene Chromosme 15 Melanosomal membrane protein Most common type of OCA in the world. Brown OCA	OCA1a: Complete absence of melanin OCA1b: Some melanin present	OCA1a: Complete absence of melanin OCA1b: Some melanin present

Causes of albinism

Clinical Presentation