Universidad de Puerto Rico- Cayey
Departamento de Biología- Rise Program
Cayey, Puerto Rico
Dorianmarie Vargas Franco
Profa. Belinda Román
Here will be presenting information of health project. My purpose with this project was to have
more knowledge about what is basically albinism in general terms. Also to inform people and motivate
them to search more about this complicated condition. Puerto Rico is the capital of albinism which let to
say so many things about how important is albinism for Puerto Rican community. It is difficult to analyze
that a small island such as Puerto Rico will be so many people with these condition. There are many
types of albinism but people commonly know the typical one, those who have white skin and hair and red
eyes. This thought change when the results are known.
Albinism is a very complicated condition. Here will be presenting which type of albinism
predominates in Puerto Rico. There are many types of albinism but there is one that predominates in
Puerto Rico affecting the community. It is concentrated in a specific area in great quantities. We want to
know more about albinism because this is not a much investigated condition and people are lack of
information. Some people think that there is not so much people with this condition because is not
usually to see a person with albinism in the street just because of the secondary effects that albinism
have. The less common type of albinism is the one the people know most. Albinism is not just white skin,
white hair and red eyes, is more complicated than what people think. The purpose of this proposal is to
know if Albinism is affecting greatly the Puerto Rican community, in which area and which type of
albinism is predominating in the island.
Albinism is a partial or total lack of pigment in skin hair and eyes. Is also known as acromia,
acronimia or acromatosis. Is a recessive allele so both parents have to have a recessive allele for
albinism so their children could have this condition. Albinism condition does not have a cure but people
do not die because of this, they die mostly because of skin cancer because their skin is very fragile and
sensitive. Taking back, about the pigment, is called melanin. Melanin is a pigment that is found in
melanocites cell that are the skin cells and in epitelos cell that are located in the eyes. There are eight
types of albinism but four of them are principal. The first one is called Albinism type 1 that is a complete
absence of pigment in skin, hair and eyes. Some people could have some grade of pigment in their skin.
Albino people with type 1 are sensitive to light and have nystagmus. Is associated with a mutation or
alteration in tyrosinase gen. Is divided in two types, OCA1(negative) that cause inactivation in genetic
function. The other one is OCA 2 which is positive and does not cause any inactivation in genetic
function. Albinism type 2 which is associated with a mutation or alteration in gene P. Gene P is the one
that accumulates melanine and acts as a transporter in the melanosomal membrane. Albinism type 3
which is associated with gene tyrosinase type 1. Provoke eyes problems but not severe. Finally Albinism
type 4 which is associated with gene MAPT and enzyme that transport melanosomes. People wit
albinism type 4 cannot control eye’s movement. Albinism can also cause other illness such as cancer,
blindness, in pregnant albino women their skin is damage with stains, deafness and other illness. In eyes
are many illness such as nystagmus which is an irregular movement of eyes back and forth or in circular
motion, strabismus which is also known as lazy eyes, photophobia to bright light, optic nerve hypoplasia,
an underdevelopment of the optic nerve and some others.
In Puerto Rico the most predominant one is Albinism type 1. Is concentrated in northwest area, in
Aguadilla, Lares, Mayaguez and others. Albinism type 3 predominates also in central area of Puerto Rico
such as Barranquitas, Naranjito and others. It is thought that Albinism type 1 predominates in that area
because when Spanish conqueror came to Puerto Rico they establish in Lares and transmit this
condition. It is proven because scientific did an experiment in which compare the genes of Puerto Rican
albino and genes with Spanish albino and concord. There are from 300 to 500 people in northwest area
only with albinism type 1. In Puerto Rico there are one of each 400 to 2,000 people. That makes Puerto
Rico the capital of albinism through the world.
To complete the research is needed to do a survey because there is not an exact amount of people
with albinism. There is needed some permissions such as IRB and the Health Department so the
medical record of each albino patient could be seen. A survey will help to make like a census and to
know the approximate amount of people with albinism. Also to know which type predominates in which
areas of Puerto Rico. The survey will be made by patient of Albinism. The organization of Albinism and
hypo pigmentation of Puerto Rico is a great organization that can help in the process of the census.
Geneticist could also help with their patient.
Benefits of the research
These researches help people to know the importance of this condition. Some people do not know
the importance of this condition. It is not difficult to have a child with this condition but it complicates with
other illness. Is important to know if are portraits of this condition and to know who can be portrait. If it is
known the quantity of people with this condition can notice that is huge and can control it in some way.
Probably some factor is making this condition to reproduce so fast and if geneticists pay more attention
to the condition it can be controlled. Also can help to make them feel comfortable and to make activities
like a person without this condition.
1).Recuperated, June 10,2009 from http://www.albinism.org/
2).Recuperated, June 10,2009 from http://www.primerahora.com/noticia/otras_panorama/noticias/
3).Recuperated, June 12,2009 from http://www.laflecha.net/canales/curiosidades/noticias/puerto-rico-es-
4).Recuperated, June 12,2009 from http://www.cnb.uam.es/~albino/albinoper.html.
Name: ____________________ Age: _____ Sex: F___ M___
Type of Albinism:___________________________
Question Yes No Explain
1). Which part of your body has been affected?
2). Another illness caused by albinism.
3). Do you have an albino familiar?
4). How many?
5) Which familiar is (are)?
6). Which type of albinism does your familiar have?
7). Name of the familiar(s). (Optional).
8). Which treatment do you receive?
9). Which treatment does your familiar(s) receive?
10). Do you think something should be better in
treatments for albino people?