Albinism: Causes, risk factors, diagnosis and treatment

Albinism, causes and risk factors

Albinism is not a curse but a genetic disorder discoloring the eye, skin, hair and sight. Caused by a birth defect and can be managed in many ways.

Albinism

Causes of Albinism

Albinism is one of the birth defects inherited in one of the genes producing or distributing Melanin( The pigment that gives the skin, eyes and hair their color).

There are many types of albinism and some affects the eyes only. For albinism to happen most times, both parents must carry the gene in other for their child to develop the condition. Such parents are carriers of this gene but do not have the condition which that finally pass on to their child at birth. It is caused by gene changes also known as mutation

Types of Albinism

  • Griscelli Syndrome
  • Occular Albinism
  • Occulocutaneous Albinism(OCA)
  • Chediak- higasm syndrom
  • Hermansky-pudlak syndrom
  • Griscelli Syndrome

Caused by defect in one of three genes. A rare genetic disorder affecting immune and neurological issues and is associated with death in first years of life

Occular Albinism

When there is mutation of X chromosome this happens thus coloring the retina. This does not affect hair and skin and occurs in males

Oculocutaneous Albinism(OCA)

Affects skin, hair and eyes. This ones have mutation in an OCA gene

OCA1 is caused by defect in tyro sinase enzyme.

Sub types of OCA1

  • OCA1a

Associated with complete absence of melanin and portrayed white hair, light eyes and extreme pale skin

  • OCA1b

Associated with production of some melanin & portrays light colored skin, hair and eyes. Coloring may improve with age.

  • OCA2

Less severe than OCA1. Caused by a defect in OCA2 gene reducing melanin production. The hair of this category of people may be light brown, blonde or yellow with light coloring and skin. Common in African descent population

  • OCA3

A defect in the TYRP1 gene affecting people with dark skin especially in southern Africa associated with reddish brown skin, hazel or brown eyes, reddish skin.

  • OCA4

Caused by defect in SLC45A2 protein. Common in people of east Asian descent with symptom similar to people with OCA2 and associated with normal production of melanin

Other sub types

OCA5, OCA6, OCA7. Very rare types.

  • Chediak higasm syndrom

Rare form of albinism resulting from defect in LYST gene. Skin is creamy white to grayish with blond, silvery sheen or brown hair. It is caused by defect in white blood cells increasing risk in infections

  • Hermansky-Pudlak syndrom

Caused by defect in one of ten genes. Occurs with lung, bowel and bleeding disorders and is a rare form of albinism mostly common in puerto rico

Symptoms of Albinism

  • Back and forth movement of eyes called nystagmus
  • Eyes sensitivity to light
  • Eyes color may be light brown, light blue, green, gray, pink etc.
  • Patches of skin having absence of color( pale skin)
  • Absence of color in eyes, skin and color
  • Skin, hair and eyes lighter in color than normal( light brown, blonde, reddish)
  • Lazy eyes called strabismus

Vision problems like

  • Impaired vision and blindness
  • Strabismus and crossed eyes
  • Nystamus or involuntary, rapid eye movements
  • Photophobia or sensitivity to light
  • Astigmatism

Diagnosis

  • Genetic testing of defective genes
  • Evaluation of symptoms by doctor
  • Electroretinogram test to measure response to light sensitive cells in eye which is associated with albinism

Treatment

There is no cure but can be managed to prevent further damage

  • Wear hats
  • Stay inside shades
  • Check skin changes.
  • Use sun glasses to protect the eyes from the sun’s UV rays
  • Surgery in muscle of eyes to correct abnormal eye movements
  • Avoid tanning beds
  • Wear sunscreen and protective clothing to protect skin from UV rays.
  • Use Prescription eye glasses to correct vision problems. See an ophthalmologist

Drugs like

Nitisinone help increase melanin in skin and hair of people with OCA1b

Note; Albinism doesn’t affect life expectancy. Though constant exposure to UV rays may increase odds of vision loss and skin cancer in people with Albinism.

 

 

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Disclaimer; No content on JaRaHaB should be used as a direct substitute for medical advice from your doctor, health and appearance personnel or practitioner

Albinism, causes and risk factors
Jarahab
I am Ray. A simple girl who writes for fun and therapy. Your favourite entrepreneur and health professional who is MPH certified. Passionate health Writer and Mental health advocate who has and is still having her fair share of varying daily, rare and challenging health and lifestyle struggles and shares in her voice how she overcomes them and how you too can cope for good Mental health. A survivor and writer with many books written to be published, a tech enthusiast and a perfectionist who has come to terms with embracing the imperfect life happily against odds through her realist nature. Oh, did i mention that there's something about me and Social entrepreneurship i have been exploring on this part of the world? Oh, anything to get the ball rolling with lots of side passions. I am founder of social enterprise called Ray. And, you know, 'I love you' just the way you are.
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