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Albinism

Albinism is a congenital disorder characterized by partial or complete absence of pigmentation in the hair, skin, and eyes. It is caused by a genetic lack of melanin production. There are two main types of albinism - oculocutaneous albinism, which affects the eyes, skin, and hair; and ocular albinism, which only affects the eyes. Oculocutaneous albinism is further divided into four subtypes based on the genetic mutations involved. Signs of albinism include visual defects, susceptibility to sunburn and skin cancer due to lack of pigmentation, and pale eyes. Treatments focus on protecting the skin from UV rays with clothing, sunglasses, sunscreen, and addressing

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189 views14 pages

Albinism

Albinism is a congenital disorder characterized by partial or complete absence of pigmentation in the hair, skin, and eyes. It is caused by a genetic lack of melanin production. There are two main types of albinism - oculocutaneous albinism, which affects the eyes, skin, and hair; and ocular albinism, which only affects the eyes. Oculocutaneous albinism is further divided into four subtypes based on the genetic mutations involved. Signs of albinism include visual defects, susceptibility to sunburn and skin cancer due to lack of pigmentation, and pale eyes. Treatments focus on protecting the skin from UV rays with clothing, sunglasses, sunscreen, and addressing

Uploaded by

shagufta khan
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© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Albinism

By
Widat Sohail
Malaika Innayat
Mahnoor Irfan
Izma Mamoon
Definition
Albinism is a congenital disorder characterized by
complete or partial absence of pigments in hair , skin
and eyes.

• Albinism is caused by a genetic lack of melanin


GENETICS OF ALBINISM
• Most forms of albinism are the result of biological inheritance of
genetically recessive alleles passed from both parents to an individual.

• Organisms can be carriers of genes for albinism without exhibiting any


traits, albinistic offspring can be produced by two non-albinistic
parents.
Incidence of albinism
• The international average for albinism is about 1in 20,000.

• There are some incidences where albinism is more than 10 times


more prevalent, these take place in south western native American
tribes.
• This is said to be so prevalent due to one single carrier.
Types
• There are two main types :

1. OCULOCUTANEOUS affecting the eyes, skin and hair. It is further


divided into four types.

2. OCULAR affecting the eyes only.


Oculocutaneous albinism
.Oculocutaneous albinism type1(OCA1)-
It is tyrosinase – related albinism results from a genetic defect in
an enzyme called tyrosinase. This enzyme helps the body to change amino acid
tyrosine into the pigment.

There are two subtypes of OCA1(OCA1A and OCA1B).


I. OCA1A- In OCA1A,The enzyme is inactive and no melanin is produced, leading to white hair
and very light skin.
II. OCA1B-In OCA1B,The enzyme is minimally active and a small amount of melanin is
produced, leading to hair that may darken to blonde, yellow/orange or even light brown, as
well as slightly more pigment in the skin.
Contd..
• Oculocutaneous albinism type2(OCA2)-It is a P-gene albinism
results from a genetic defect in the p-protein that helps the tyrosinase
enzyme to function.

• Individuals with OCA2 make a minimal amount of melanin pigment


and can have hair color ranging from very light blonde to brown.
Contd …

Oculocutaneous albinism type3(OCA3)-


It is rarely described and results from a genetic defect in TYRP1, a
protein related to tyrosinase. Individuals with OCA3 can have
substantial pigment.

Oculocutaneous albinism type4(OCA4)-


It results from a genetic defect in the SLC45A2 protein that helps
the tyrosinase enzyme to function. Individuals with OCA4 make a
minimal amount of melanin pigment similar to persons withOCA2.
. Ocular albinism(OA1)

• It is caused by a change in the gene that plays a signaling role that is


especially important to pigmentation in the eye.

• It is X Linked disease mainly found in males as they have one X and


one Y chromosome.
Signs and symptoms

• Number of visual defects such as photophobia, nystagmus and astigmatism.

• Lack of skin pigmentation making more susceptible to sunburn and skin cancer.

• Absence of normal pigments in eyes resulting in pale blue or red eyes.


Treatment Of albinism
• There are few possible treatments to ease the symptoms such as,

 Ultra violet protective clothing, sunglasses and hats

 sunscreen SPF 15 or higher.

 Glasses for refractive error

 Muscle surgery

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