Albinism - Incidence, Causes and Types

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What are the Types of Albinism?

Oculocutaneous Albinism (OCA) - It is the most common and severe form of albinism. It affectsthe eyes, skin and hair. People with OCA also suffer from vision defects, usually myopia or short sightedness and require glasses.

OCA can be categorized into different types based on the specific gene involved.

► In Type 1 albinism there is a defect in the metabolism of an amino acid called tyrosine that leads to failure in converting tyrosine to melanin. The conversion normally happens due to an enzyme called tyrosinase, however, if there is a defect in the enzyme it fails to happen.

► In Type 2 albinism there is a defect in the P gene. In this type there is only minor defect in the pigmentation at birth.

► In Type 3 albinism there is a genetic defect in TYRP1, a protein related to tyrosinase.

► In Type 4 albinism there is a genetic defect in the SLC45A2 protein that helps the tyrosinase enzyme to function.

Ocular Albinism (OA) - In this condition the skin color is usually normal and eye color may be in the normal range. But close examination of the eye reveals that there is no pigment in the retina. It accounts for about 10 to 15% of the albinism cases. It can be inherited either by an X-linked or an autosomal recessive process.

There are some conditions in which there is only a specific area of the body that is affected by the condition. These include-

Waardenberg Syndrome - In this type of syndrome there is only a small lock of hair on the forehead that is white and not pigmented or there maybe just one or both eyes (the iris) that has absence of pigment.

Chediak-Higashi Syndrome - Lack of melanin pigment all over the body with few areas being spared.

Tuberous sclerosis (white leaf macule) - Tuberous sclerosis are small localized areas of de-pigmentation.

Hermansky-Pudlak Syndrome (HPS) - This condition is associated with a great range in degrees of pigmentation, from no pigmentation to almost normal coloring. Vision usually ranges from 20/60 to 20/200(normal vision is 20/20). People with HPS lack dense bodies in their blood platelets, which are responsible for releasing clotting factors. It is a single-gene disorder inherited in an autosomal recessive manner. It is a form of albinism associated with a bleeding tendency (bleeding disorder) along with problems of lungs (lung fibrosis) and bowel diseases.

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i would like to clarify something. i am a Nigerian girl with albinism. i have a light complexioned skin and yellow-blonde hair. i do not regularly use sunscreen but i go out on a daily basis. the sun is hot but i hardly get sun burns. generally, the sun is not good for anyone. don't put this as if albinos would melt under the sun. i wear long sleeved clothes but many times, i love short sleeved clothes just to flaunt my smooth skin. albinism is not a disability or a kind of sickness that requires treatment. one has to carefully take care of oneself. i see albinism as a mere variation, not a genetic disorder. at least, i have the chance to be African and non African [in terms of complexion and hair colour] at the same time. many people do not have that privilege. i also see clearly, without glasses. i use shades when i am outdoors, but not always. my eyes are green, not blue

It's great that you feel comfortable in your own skin and can find upsides to having albinism. However, scientifically, albinism is a genetic disorder. The normal human does not have albinism, and albinism is caused by a mutation in the genes where there is a lack of pigment in the skin, hair, and eyes. Though the symptoms of albinos vary from person to person, it is a fact that albinos are more prone to sunburn due to their pale complexion, just like people with lighter skin are more prone to sunburn than darker skinned people. It is also a fact that the average person affected with albinism is more prone to eye issues due to the lack of pigment in their retinas. Again, it is not the case that all people with albinism have eye issues, but it is much more probable. Albinism is a genetic disorder, as it is a recessive mutation in the chromosomes. This article is correct, and albinos usually do require more treatment than someone who has more pigment in their hair, eyes and skin.

hi i m an allied health professional and doing my research on the visual outcome with different optical aids of albinos to enhance their activities of daily life so plz any of u if have informaation about albinism plz send it on my id

Guest

hi
i have 2 kids having Albino
11 years old and 9
i live in Middle East and ready to travel anywhere if there,s a treatment to improve their vision and life, do u recommend me to do any test before having my 3rd baby, bcz i held this issue fearing that my 3rd baby could have the same prbl. thanks and waiting for reply

best regards
Moulham Shami
Syrotec- G.M

Guest

Hey doc,my son's father is hypo pigmented,he was born with it.I think my son is hyper pigmented,is this possible?Just asking because they are a little different but I heard it runs in families.

pink_y

Hi, I am an albinic girl. I am 29 years old. I am orried about if I marry a guy than shall I have a normal baby or an albenic. What are the risk factors. Please help

Yeah, in Biology, I learned things such as Punnet Squares. If 2 capital A’s are in the genotype [AA], then they are not albino. If 2 lowercase a’s are in their genotype (aa), then they will be. If it is one of each (Aa), then they will not be albino, but they can pass it on to their kids. You have aa. Someone without albinism in their family at all is AA. If you marry that dude, your child will be Aa (they will not show albinism, but they can pass it on to their kids. If they marry someone with AA, the child will have a 50% chance of AA and a 50% chance of Aa ). If you marry someone with albinism in their family (Aa [actually, they could be AA also, but it is unlikely {it all depends on the parents}]) then your child will have a 50% chance aa (full albino) and a 50% chance Aa (pass it on to their children). Hope that helps. For more info, Google Punnet Squares.

reset

male cant pass any symptoms because, they are XY and only the X holds the phenotype. female are XX so they can pass the phenotype. also male that has it cant hide it, because there is only 1 X. the X holds the genes so female may get XA Xa and that hide the phenotype because there is another X with lower case a.

This only occurs if the disorder is X-linked. In this case, it is not. Albinism is recessive and he may have the gene for it, making his gene Aa.

Lexis83

YOUR KIDS WILL NOT BE BORN ALBINO, I HAVE 3 KIDS AND 1 ON THE WAY AND I AM ALBINO...MY KIDS FATHERS ARE AFRICAN AMERICAN AND MY KIDS ARE LIGHT SKINNED.

slinkey3

ok so im a freshmen and i wanted to know if albinism occures more in humans or animals

Can anyone tell me will my children have albinism if i marry a girl whose father have albinism?

awesome

you can go to genetic counceling to see if your children have a chance of having albinism. its all in genetics.

Yeah, just see 2 comments up [pink_y]. Or, just read what I commented here: Yeah, in Biology, I learned things such as Punnet Squares. If 2 capital A’s are in the genotype (AA), then they are not albino. If 2 lowercase a’s are in their genotype (aa), then they will be. If it is one of each (Aa), then they will not be albino, but they can pass it on to their kids. You have aa. Someone without albinism in their family at all is AA. If you marry that dude, your child will be Aa (they will not show albinism, but they can pass it on to their kids. If they marry someone with AA, the child will have a 50% chance of AA and a 50% chance of Aa ). If you marry someone with albinism in their family (Aa [actually, they could be AA also, but it is unlikely {it all depends on the parents}]) then your child will have a 50% chance aa (full albino) and a 50% chance Aa (pass it on to their children). Hope that helps. For more info, Google Punnet Squares.

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