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 (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 Chromosome 11 Tyrosine deficiency	Mutations in OCA2 Gene Chromosme 15 Melanosomal membrane protein Most common type of OCA in the world.	Mutations in TYRP1 Gene Chromosome 9 Stabilizes Tryosinase	Mutations in SLC45A2 Gene Chromosome 5 Membrane Transport protein
OCA1a: Complete absence of melanin OCA1b: Some melanin present	Brown OCA	Red OCA	Nearly normal melanin
Most common globally	Common in people of African	Common in southern Africa	Common in East Asian

Ocular Albinism

Red OCA - OCA3

Causes of albinism

Clinical Presentation