We often come across individuals who lack any kind of color on their skin, hair, or maybe their eye color is too light to be detected. They might seem uncanny to our vision but then it’s essential to know that it could be some form of disease or disorder with which someone might have been born.
Color gives a special essence to our body, hair, or our eyes. The cornea lens does play a role in protecting the eye from the sun or any bright light. But then, what if there is absolutely no or maybe a little prevailing eye, hair or skin color. This happens due to scarce of pigmentation inside our body which is responsible for coloration and shields our skin from any kind of skin disease or Skin Cancer as to say. This disorder is known as Albinism or Oculocutaneous Albinism.
What is this Genetic Disorder all about?
The disorder is medically known as Oculocutaneous Albinism. This is generally an inherited disorder. The body in this condition either produces Melanin (a necessary pigmentation for skin color) in a very limited or little amount or does not produce it at all. The skin color also varies depending upon the type of melanin been produced in the body. It’s a very rare fact known that since Melanin also helps in the development of the optic nerve, the scarcity of the same also results in Vision problems as in, disability to see properly, or maybe a cause of blindness.
There are usually types associated with this disease that defines how to be diagnosed further by the concerned physician:
- Ocular Albinism
This type is mostly identified in males than females and is linked with the X Chromosome. Since it’s an inherited gene mutation on the X Chromosome. When a mother with one muted X chromosome transfers it’s to his son (X-Linked recessive Inheritance), there are chances that the male child develops this disorder. Ocular Albinism is mainly concerned with vision disability. This is type 1 in Ocular Albinism and is a rare kind to be found.
- Oculocutaneous Albinism (OCA)
This is the common form of Albinism identified where the offspring inherits two sets of the mutated genes from each set of chromosomes of both parents (Autosomal Recessive inheritance). Mutation in any one of the genes among the seven genes (OCA1-OCA7) leads to the development of less pigmentation or discoloration either in skin hair or eyes which leads to vision impairment.
- Rare Hereditary Syndromes
There have been two kinds identified under this rare hereditary Albinism that involves Hermansky-Pudlak Syndrome which involves showing signs of bleeding and bruising issues and Lung, Bowel disease along with being another form of OCA. The other category is termed as Chediak-Higashi Syndrome, apart from being another kind of OCA this involves immunity problems, mental or neurological issues, and consistent or recurrent infections.
How to identify this disorder in an Individual?
- If an Individual is Asian and suffering from OCA, chances are that probably the hair color might range from going yellow, reddish, or maybe brown. They are likely to appear darker as they proceed towards adulthood and are exposed to other environmental factors.
- The individuals have discolored skin, hair or eyes
- Hairs are lighter in color in appearance
- The skin might have patches on it from wherever it is discolored
- Sensitivity to light due to the light color of their eyes (photosensitivity also)
- An unusual shape of the cornea/lens in the eye which affects the way light passes through it (astigmatism)
- Involuntary eye movements which are quite rapid
- Occurrence of blindness
- Increased risk of Skin cancer
- A specific form of Chediak Higashi Syndrome may cause neurological disturbances.
- There might be moles on the skin which could also be without pigment
- An inability to tan, also major infection from sunburn
- Freckle-like Spots
- The eyelashes and eyebrows itself are mostly white in color or maybe lighter in appearance.
- Translucency in Irises due to scarce in pigmentation
- The inability of the eyes to move in unison and stay directed at something together.
- Problems of near or farsightedness which are generally extreme.
What is the prescribed treatment?
In this case, when a parent observes any of the symptoms mentioned above it is necessary to consult a doctor at an early age. Your physician will help and advise you about which form of Albinism your child or anyone is suffering from. A genetic counselor is likely to be consulted at this time to understand if it has been passed from any family member. The counselor will also help you understand the chances of your future child to suffer from this disorder and call for tests to understand the severity and type of Albinism.
