OCULAR ALBINISM :
What is Albinism?
Albinism is a congenital (begin and continue
since birth) disorder in which there is the complete or partial absence of pigment
(substances that give color) in the skin, hair, and eyes, and therefore they
appears to be white however color of eyes can vary from brown, blue to
various other which we will discuss in signs and symptoms. ‘Albinism’ term is
derived from the Latin word Albus which means ‘white’.
There are two main types of albinism:
Oculocutaneous
Albinism in which the eyes, skin, and hair are affected, and the other one is
Ocular
Albinism in which only eyes are affected.
We are going to discuss Ocular albinism in
detail:
Ocular Albinism :
Overview:
Ocular Albinism is a rare eye condition that happens
much more often in males than females. This condition reduces the pigmentation of the
iris in the eyes which is essential for normal vision.
A person suffering from this disorder can have
bad visual acuity in which sharpness of vision is affected, nystagmus,
strabismus, photophobia, Optic nerve hypoplasia, and some other eye
abnormalities also.
Nettleship-Falls type or type 1 is the most common form of ocular albinism.
There are some other forms also but they are much rarer and might give
additional signs and symptoms, for example, hearing loss.
Causes Of Ocular Albinism :
A person who has ocular albinism is born with it
because it is genetic. Females are usually carriers (carries the gene but don’t
show up any symptoms) of the gene in most cases and the offspring inherit this from their mothers.
Ocular albinism type 1 is caused due to mutations
in the GPR143 gene. This gene’s function is to provide the instructions for
making a protein that plays the role in the pigmentation of eyes and skin. It
helps in controlling the growth of melanosomes; cellular structures that
produce the pigment called melanin. Melanin is the only pigment which is
responsible for coloration in the eyes, skin, and hair in humans
Mostly, mutations in the GPR143 gene affect and
alter the size or shape of the GPR143 protein which prevents the protein from
reaching melanosomes because of which they aren't able to control the growth of
these cells, and melanin production is disturbed. And if, anyhow shape is not
altered, in those cases, mutations might disrupt the function of the protein and
again melanin production is disturbed causing this problem of ocular albinism.
Symptoms :
- National
Organization for Albinism and Hypopigmentation, states that a person with
ocular albinism, the color of the iris of the eyes can vary from blue to
green or even sometimes brown, and in some cases, darkens with age.
However, when an ophthalmologist examines the eye by throwing light from
the side of the eye, the light shines back through the iris, because of
less pigment present.
- Since the
retina and nerves behind the eyes are affected, Things look blurry and it
cant make sharp images because the nerves behind aren't able to transmit signals
for a clear image to the brain.
- Underdevelopment of Optic nerve: Optic nerve hypoplasia can also be one of the symptoms.
- Amblyopia
- Strabismus (Know more about this in our article STRABISMUS)
- Nystagmus (Know more about this in our article NYSTAGMUS)
- Reduced visual acuity.
- Photophobia
- Problems with
depth perception.
Treatment :
There is no cure and treatment available for this
condition because it is genetic but ya there are ways people can run their lives
along with this problem which are as follows:
- People
suffering from ocular albinism can use bifocal glasses, prescription
reading glasses, and contact lenses to better their vision.
- Some people
also, use handheld magnifiers.
- Indoor lighting
behind the shoulder rather than having in front can help the person with
ocular albinism to see better.
- Some treatment
can be done based on the symptoms like surgery can be performed on
the extra-ocular muscles to decrease strabismus and in Nystagmus
, Nystagmus-damping surgery can also be performed in order to reduce the
quick movements of the eyes back and forth.
Prevention :
There is no prevention for this condition because it is inherited and a person have it since the time of birth but ya, amniocentesis can be done for
genetic testing to know about the gene responsible for albinism and then it can
be decided to continue the pregnancy or not if the gene is affected.
Well, we are not sure, this would work or not, we are suggesting this
method because amniocentesis is done for testing genes for other disorders too. Amniocentesis can't
identify all genetic conditions and birth defects, so it's better to consult a doctor and ask him/her whether this can be the option or not.
Fact Time :
We got to know a lot about Ocular albinism and even a bit about Albinism. We covered less information about albinism because that topic is not related to bestabouteyes but I am sure you will get a lot of information about Albinism in other blogs on the internet but let me tell you an amazing fact related to this with the end of the blog :
International Albinism Awareness Day is celebrated on 13th June annually to celebrate the human rights of people with albinism.
You might be wondering that what was the need for this so let's go to some
history portion…
Around the mid-2000s, there were rising cases of violent attacks on and murders of persons having albinism in the country Tanzania.
Some believed there were magical powers in the bodies of people with albinism and thus use them for lucky charms and occult rituals. In response to this, the Tanzania Albinism Society (TAS) and some other NGOs began campaigning for the human rights of the people with albinism. TAS celebrated the first Albino Day on May 4, 2006, and it became National Albinism Day from 2009 onwards. Later on, the United Nations Human Rights Council (UNHRC) proclaimed 13th June to be celebrated as International Albinism Awareness Day(IAAD) to celebrate the human rights of people with albinism worldwide.
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