Albinism - Medtick

Albinism

What is it?

A lifelong condition where one has a lack of melanin (found in the skin), the pigment that colours your  skin, and hair (oculocutaneous albinism).

  • Melanin is also needed in the development of the retina, the thin layer of cells at the back of the eye (ocular albinism).

There are to main types:

Oculocontaneous Albinism

  • Hair skin and eyes are affected
  • it occurs from four different gene mutations.

Ocular Albinism

  • Mainly eyes are affected with relative sparing of the skin and hair.

Less common forms are:

Chediak-Higashi syndrome

  • Albinism with fever related infections and tiredness (blood disorders – neutropenia – low levels of white blood cells), neurological disorders and blood clotting conditions.

Hermansky-Pudlak syndrome

  • Albinism with bruising and bleeding under the skin and breathing difficulties (pulmonary fibrosis-thickening or scarring of the tissue of the walls of the air sacs in the lungs)

Griscelli syndrome

Type -1

  • Albinism with severe brain damage , seizures, poor co-ordination , muscle weakness and vision problems.

Type 2

  • Albinism with a weak immune system – where one is prone to infections and fevers.

Type 3

  • Only Albinism

Cause


Autosomal recessive inheritance

  • In most cases, including all types of oculocutaneous albinism and some types of ocular albinism, albinism is passed on in an autosomal recessive inheritance pattern. This means a child has to inherit two copies of the faulty gene (one from each parent) to have the condition.
  • If both parents carry the gene, there’s a 1 in 4 chance that their child will have albinism and a 1 in 2 chance that their child will be a carrier. Carriers don’t have albinism but can pass on the faulty gene.

X-linked inheritance

  • Some types of ocular albinism are passed on in an X-linked inheritance pattern. This pattern affects boys and girls differently: girls who inherit the faulty gene become carriers and boys who inherit the faulty gene will get albinism.
  • When a mother is a carrier of an X-linked type of albinism, each of her daughters has a 1 in 2 chance of becoming a carrier and each of her sons has a 1 in 2 chance of having albinism.
  • When a father has an X-linked type of albinism, his daughters will become carriers, and his sons won’t have albinism and won’t be carriers.

NHS choices

Symptoms

  • White or very light blonde hair?
  • Pale looking?
  • Pale blue, grey or brown eyes (pending on ethnicity)?
  • Blurred vision?
  • Dry skin?
  • Skins burns easily?
  • Skin doesn’t tan?

Complications /Information to beware of/General tips:

This condition can lead to:

One must visit an optometrist for regular eye tests and check ups.

General tips


This condition may show similar symptoms to:

  • Cross Syndrome
  • Hypohidrotic ectodermal dysplasia [skin on most of the body may be abnormally thin, dry, and soft with an abnormal lack of pigmentation (hypopigmentation). However, the skin around the eyes (periorbital) may be darkly pigmented (hyperpigmentation) and finely wrinkled, appearing prematurely aged]
  • Waardenburg syndrome – [hearing loss this syndrome can cause eye problems and abnormalities in the pigment (colour) of the hair and eyes]

Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice

Detailed Information

Please copy and paste any key words from the title: Albinism in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).

  • NHS

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