Albinism is a genetic disorder which affects the amount of melanin produced, in a persons

(skin, hair, or eyes). Oculocutaneous albinism, Ocular albinism, and Hermansky-Pudlak

syndrome are additional names for this genetic disorder. The disorder commonly affects men,
because it is a recessive gene and due to sex men only need one x chromosomal link whereas
females need two. Females are usually carriers. Albinism does not affect any specific ethnic
or religious group.
Symptoms/ Effects- albinism can affect (skin, eyes and hair)
people lacking the skin pigment melanin have very pale colour and are more susceptive to
getting skin burns and thus skin cancer. People with albinism affecting the eyes have cross
eyed vision (esotropia) treated by surgery, are light sensitive (photophobia) and have visual
problems (blindness/ astigmatismirregular shape cornea) and rapid eye movements
(nystagmus).
Causes of albinism -It is caused by a recessive allele which is inherited and is found on the
14
th
chromosome, section q, loci 14-21. Thus for children to have albinism parents dont need
to have disease but can be carriers as (autosomal recessive condition), with 25 per cent
chance of albino trait. The defects may be passed down through families.
There are two main types of albinism: Type 1 albinism is caused by defects that affect
production of the pigment, melanin. Type 2 albinism is due to a defect in the "P" gene. People
with this type have slight colouring at birth.
The most severe form of albinism is called oculocutaneous albinism of ty
(positive+negative) types. People with this type of albinism have white or pink hair, with pale
skin and iris pale colour, as well as vision problems. Ty negative is when there is no melanin
pigment, thus people with this have difficulty with vision. Ty positive has little of the
pigment present thus less severe visual problems.Ty negative albinism results from genetic
defect in enzyme tyrosinase which is needed to change tyrosine(AA) into melanin pigment.
Another type of albism, called ocular albinism type 1 (OA1), affects only the eyes. The
person's skin and eye colours are usually in the normal range. However, an eye exam will
show that there is no colouring in the back of the eye (retina).
Hermansky-Pudlak syndrome (HPS) is a form of albinism caused by a single gene. It can
occur with a bleeding disorder, as well as with lung and bowel diseases.

Diagnosis of albinism- can be done through chemical testing of a strand of hair, through eye
test called electroetinogram, maybe through colour of (skin, hair and eyes) and through DNA
testing.
Albinism treatment- Albinism cannot be cured, but a individual with albinism can wear
coloured contacts or sunglasses to comfort and guard their eyes. They can put on sun block
and stay inside to guard their skin