By Sabrina Basile*Hermansky-Pudlack Syndrome *Oculocantous Albinism Albinis *Ocular Albinism m Affects more than Just People…. 1
✴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. 2
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. 3
✴At least eight genes are associated with albinism. These genesGene 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
Inhe ritan ce.. ...The condition is inherited in an autosomal recessivepattern, which means both copies of the gene ineach cell have mutations. The parents of anindividual with an autosomal recessive conditioneach carry one copy of the mutated gene, but theytypically do not show signs and symptoms of thecondition.
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. 6
Pedigree Example forAlbinism… 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.
How can Albinism beDiagnosed?✴Doctors may diagnose the condition based on the appearance ofyour skin, hair, and eyes.-An ophthalmologist should further test a patient to reveal visionproblems related to albinism✴Genetic testing offers the most accurate way to diagnosealbinism. *Ophthalmologist; A doctor specializing in the medical science dealing with the anatomy, functions, and diseases of the eye.
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 9
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 usingsunscreen, and covering up completely withclothing when exposed to the sun.Sunscreen should have a high SPF Sunglasses may relieve light sensitivity.Glasses are often prescribed to correct visionproblems and eye position. Eye muscle surgery issometimes recommended to correct abnormal eyemovements. 10
How Common is the Disease?Albinism is a rare disorder in mostpopulations; but it is estimated to affect 1 in500,000 to 1 in 1,000,000 individualsworldwide. Seems to be more common in Puerto Rico where 1 in 1,800 can be affected.Groups in Japan and Switzerland have alsobeen found to be affected
National Organization for Albinism and Hypopigmentation -- www.albinism.orgGroups… International Albinism Center -- www.med.umn.edu/ophthalmology/ce nters/albinism/home.html Hermansky-Pudlak Syndrome Network -- www.hpsnetwork.org 12
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 13