1. By Sabrina Basile
*Hermansky-Pudlack Syndrome
*Oculocantous Albinism
Albinis
*Ocular Albinism
m Affects more than Just People…. 1

2. ✴Despite the claims of earlier
Y
historians, Aulus Gellius and
Plinius Secundus the Elder , that
are said to first have observed
albinism, its discovery as a disease
was credited to Archibald Garrod.
The disease was discovered by
Garrod in roughly 1908. He
observed patients, particularly
those with symptoms like
hypersensitivity to light, and eye
misalignment.
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3. What is Hermanskey- Pudlack Syndrome?
✴ Hermansky-Pudlak syndrome is characterized by a condition called
oculocutaneous albinism, which causes an abnormal light coloring
pigmentation of the skin, hair, and eyes.
✴ Those affected by the syndrome, have fair skin and either white or
light colored hair.
✴ Excessive sun exposure increases the risk of skin damage or
cancer
What is Oculocutaneous
Albinism?
✴ Disorder in which pigmentation in the iris (colored part of
your eye) and the light-sensitive tissue in the back of your eye
(Retina) is reduced.
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4. ✴At least eight genes are associated with albinism. These genes
Gene Mutation...... provide instructions for making proteins that are used to make
four distinct protein complexes. The complexes are used to
construct a group of cells called lysosome-related organelles
(LROs).
✴LORs perform specialized functions found in certain cells.
✴They have been identified in pigment cells
✴Mutations in genes associated with albinism prevent the
formation of LORs or impair the functioning of the structure.
✴People who have the disease prevent LROs within Pigment
cells to produce and distribute the substance that gives skin,
hair, and eyes their color

5. Inhe ritan ce..
...
The condition is inherited in an autosomal recessive
pattern, which means both copies of the gene in
each cell have mutations. The parents of an
individual with an autosomal recessive condition
each carry one copy of the mutated gene, but they
typically do not show signs and symptoms of the
condition.

6. Two Types of Causes.
….
Type 1- Albinism is caused by defects that affect
production of the pigment, melanin.
Type 2; Albinism is due to a defect in the "P" gene.
People with this type have slight coloring at birth.
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7. Pedigree Example for
Albinism…
The pedigree above is an example of how individuals can inherit
albinism. All the shapes not shaded may not have expressed the disease,
but they all inherited the gene. This is evident in the fourth generation; 4
of the children express the disease.

8. How can Albinism be
Diagnosed?
✴Doctors may diagnose the condition based on the appearance of
your skin, hair, and eyes.
-An ophthalmologist should further test a patient to reveal vision
problems related to albinism
✴Genetic testing offers the most accurate way to diagnose
albinism.
*Ophthalmologist; A doctor specializing in the medical science dealing with
the anatomy, functions, and diseases of the eye.

9. A person with albinism will have one of the
following symptoms:
Absence of color in the hair, skin, or iris of the
eye
Lighter than normal skin and hair
Patchy, missing skin color
Many forms of albinism are associated with the
following symptoms:
Crossed eyes (strabismus)
Light sensitivity (photophobia)
Rapid eye movements (nystagmus)
s
Vision problems, or functional blindness
Problems with blood clotting
 Some experience breathing problems due to a lung
disease called Pulmonary
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10. Treatment
There is no real cure for albinism, but the goal of
treatment is to relieve symptoms
Treatment involves protecting the skin and eyes
from the sun:
Reduce sunburn risk by avoiding the sun, u using
sunscreen, and covering up completely with
clothing when exposed to the sun.
Sunscreen should have a high SPF
 Sunglasses may relieve light sensitivity.
Glasses are often prescribed to correct vision
problems and eye position. Eye muscle surgery is
sometimes recommended to correct abnormal eye
movements.
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11. How Common is the
Disease?
Albinism is a rare disorder in most
populations; but it is estimated to affect 1 in
500,000 to 1 in 1,000,000 individuals
worldwide.
Seems to be more common in
Puerto Rico where 1 in 1,800 can
be affected.
Groups in Japan and Switzerland have also
been found to be affected

12.  National Organization for Albinism
and Hypopigmentation --
www.albinism.org
Groups…
 International Albinism Center --
www.med.umn.edu/ophthalmology/ce
nters/albinism/home.html
 Hermansky-Pudlak Syndrome
Network -- www.hpsnetwork.org
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13. Bibliography
✴http://ghr.nlm.nih.gov/condition/hermansky-pudlak-syndrom
 http://www.whodiscoveredit.com/who-discovered-albinism.html
✴http://health.nytimes.com/health/guides/disease/albinism/overview.html
 Google Images
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