61. Pedigree: Two Forms Of Albinism albinism (absence of melanin pigment) is inherited as an autosomal recessive trait. It turns out that there are two forms of albinism both of which are http://www.people.virginia.edu/~rjh9u/albinoped.html

Pedigree: Two Forms of Albinism Albinism (absence of melanin pigment) is inherited as an autosomal recessive trait. The left portion of the pedigree above fits well with the observation that individuals affected with rare, recessive traits often have related parents. However, the mating in the fourth generation between two affected individuals produces an unaffected (normally pigmented) child and this does not seem to be compatible with a recessive mode of inheritance. It turns out that there are two forms of albinism both of which are inherited in an autosomal recessive manner. In the pedigree above, one family is segregating for one form of albinism (A,a) but not for the other (B,B) while the other family is the reverse (A,A; B,b). Thus, the normally pigmented child of the albino parents is heterozygous (Aa; Bb) for each of the two genes. This document maintained by Robert J. Huskey Last updated on April 1, 1998.

62. Albinism Gerry A Adams Answer albinism, or the absence of coloration, in humans is usually due Tyrosinasenegative albinism is inherited as a recessive trait. http://www.newton.dep.anl.gov/askasci/bio99/bio99125.htm

Ask A Scientist Biology Archive Albinism What causes albinos? Gerry A Adams Answer: Albinism, or the absence of coloration, in humans is usually due to the absence of melanin pigments. This is usually due to the absence of an enzyme called tyrosinase. Tyrosinase is needed to convert tyrosine to a compound called DOPA, which is eventually converted into melanin pigments. Tyrosinase-negative albinism is inherited as a recessive trait. Source: Mange and Mange, Genetics: Human Aspects (1980). Brian Schwartz Back to Biology Ask A Scientist Index NEWTON Homepage Ask A Question ... NEWTON is an electronic community for Science, Math, and Computer Science K-12 Educators. Argonne National Laboratory, Division of Educational Programs, Harold Myron, Ph.D., Division Director.

63. Albinism Genes albinism Genes. name Diana status student age 60s Question What is wrong with the genes What is wrong with the albinism genes? albinism is caused by a http://www.newton.dep.anl.gov/askasci/mole00/mole00022.htm

Ask A Scientist Molecular Biology Archive Albinism Genes Back to General Science Topics Ask A Scientist Index NEWTON Homepage Ask A Question ... NEWTON is an electronic community for Science, Math, and Computer Science K-12 Educators. Argonne National Laboratory, Division of Educational Programs, Harold Myron, Ph.D., Division Director.

64. Albinism: Life As An Albino By Bianca Knowlton... Bianca s homepage on albinism, looking through the eyes of Bianca as an albino; from different family viewpoints, Q A, Photo album more.. http://www.knowlton.clara.net/family/Albinism/bianca.htm

Bianca's Forum has now gone live.. mAd Bianca has been featured in an article written by Rose George on Albinism called 'Beyond The Pale' for the Sunday Telegraph magazine on 5th October, 2003 to read this article Click to read article Hi, W e have tried to put together an insight to Albinism in a light way, hopefully making it easier to understand. Though there are serious issues to address and comment on as well, this will be covered in the same way, but not to detract from the importance of that particular issue. The following pages is information to help people understand and to also help perhaps, if you have an albino child or, you are an albino and would like to email, talk, ask questions...... (Dad is my secretary/ghost writer when needed and handles all the technical stuff.....) to get in contact with me, Dad or any of my family that you may wish to relate to, click contact for private, personal or use the forum. Each member of the family has their own perspective on Albinism and how it has effected them personally or, just read about the family and my experiences, privately. The pages will be added to, so check out the site from time to time for the new pages & updates. If you wish to get in contact with me or any of the family, then do not hesitate to click the contact button on each of the pages........... also, if you have any photo's that you would like to have published on the site in "

65. Albinism; What Is Albinism (Bianca Knowlton) A look at all the technical stuff about albinism but in a simplistic way. A part of Bianca Knowlton s Homepage. Join Mike, Carin Tanya, with more pages on http://www.knowlton.clara.net/family/Albinism/what_is_albinism.htm

T The word "albinism" refers to a group of inherited conditions. People with albinism have little or no pigment in their eyes, skin, or hair. They have inherited genes that do not make the usual amounts of a pigment called melanin. One person in 17,000 has some type of albinism. Albinism affects people from all races. Most children with albinism are born to parents who have normal hair and eye colour for their ethnic backgrounds. Often people do not recognize that they have albinism. For people like myself, (full, OCA1)) the stats are estimated as 1 in 7 have all 3 (red eyes, white hair, white skin) so this form is quite rare...... but hey.... always thought I was unique...... A common myth is that by definition people with albinism have red eyes. In fact there are different types of albinism, and the amount of pigment in the eyes varies. Although some individuals with albinism have reddish or violet eyes, most have blue eyes. Some have hazel or brown eyes. With me ( Bianca) , I am classed as a full Albino, with pink eyes and nystagmus, pale skin & white hair and visually classed as borderline Braille user but, Hey..... I can still spot a good looking guy at 10 paces... how I do that will be explained in the page "What do I see as an Albino".

66. Fact Sheet Albinism albinism refers to a group of inherited conditions. People with albinism have absent or reduced pigment in their eyes, skin or hair. http://www.blindbabies.org/factsheet_albinism.htm

Pediatric Visual Diagnosis Fact Sheet TM ALBINISM DEFINITION Albinism refers to a group of inherited conditions. People with albinism have absent or reduced pigment in their eyes, skin or hair. They have inherited genes that do not make the usual amounts of a pigment called melanin which is essential for the full development of the retina. Lack of melanin in development of the retina is the primary cause of visual impairment in albinism. In the USA it is estimated that one person in 17,000 has some type of albinism. There are two major categories of albinism (overlap of these categories often occurs): Ocular Albinism (OA) is divided into two types according to the inheritance pattern: autosomal recessive OA occurring equally in males and females, and X-linked OA with symptoms occurring primarily in males. In the X-linked cases, mothers carry the gene and pass it to their sons. Although the mothers usually have normal vision, they have subtle eye changes that can be identified by an ophthalmologist. If a woman does carry the gene, with each pregnancy there is a one in two chance of having a son with X-linked ocular albinism. For specific information, families should seek the advice of a qualified genetic counselor. Oculocutaneous Albinism (OCA, involves the lack of pigment in the hair, skin and eyes. Each parent must carry the gene for this form which follows an autosomal recessive inheritance pattern, meaning there is a one in four chance at each pregnancy that the baby will be born with albinism. Within OCA there are two primary types of albinism.

67. Albinism albinism is a group of rare inherited disorders characterized by the absence at birth of color (pigmentation) http://my.webmd.com/hw/health_guide_atoz/nord42.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Albinism Important It is possible that the main title of the report Albinism is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Oculocutaneous Albinism BADS Albinismus Congenital Achromia Hypopigmentation Disorder Subdivisions Tyrosinase Positive Albinism (Type II) Tyrosinase Negative Albinism (Type I) Yellow Mutant Albinism Chediak-Higashi Syndrome Hermansky-Pudlak Syndrome Cross' Syndrome Brown Albinism Autosomal Dominant Albinism Rufous Albinism Black Locks-Albinism-Deafness of Sensoneural Type (BADS) Ocular Albinism Nettleship Falls Syndrome (X-Linked) Forsius-Eriksson Syndrome (X-Linked) Aland Island Eye Disease (X-Linked) AIED Autosomal Recessive Forms of Ocular Albinism Albinoidism General Discussion Albinism is a group of rare inherited disorders characterized by the absence at birth of color (pigmentation) in the skin, hair, and eyes. Albinism is also associated with certain syndromes that produce defects in the eyes (ocular abnormalities). The syndromes of this disorder are categorized as Tyrosinase-Negative Oculocutaneous Albinism, Tyrosinase- Positive Oculocutaneous Albinism (Albinoidism), and Ocular Albinism.

68. Albinism National. Local chapters and contact people. Founded 1982. Support and information for individuals, http://my.webmd.com/hw/raising_a_family/shc29alb.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map Health Topics Symptoms ... NOAH (National Organization for Albinism and Hypopigmentation) Albinism NOAH (National Organization for Albinism and Hypopigmentation) National. Local chapters and contact people. Founded 1982. Support and information for individuals, families, and professionals about albinism (a lack of melanin pigment). Encourages research leading to improved diagnosis and treatment. Newsletter, chapter development guidelines, national conference. Dues $20 individual; $25 family. WRITE: NOAH P.O. Box 959 East Hempstead, NH 03826-0959 CALL: 603-887-2310 1-800-473-2310 Information on NJ support group FAX: 603-887-6049 E-MAIL: info@albinism.org WEBSITE: http://www.albinism.org VERIFIED: 4/14/2005 The above information was "verified" as correct on the date at the end of each entry. Since American Self-Help Group Clearinghouse's database is extensive but staffing is limited and information for these organizations can change, it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information.

69. Albinism New Zealand peer support, educational and information group for persons with albinism their famalies or friends. http://groups.msn.com/Albinism

var nEditorialCatId = 155; MSN Home My MSN Hotmail Shopping ... Money Web Search: document.write(' Groups Groups Home My Groups Language ... Help Albinism Albinism@groups.msn.com What's New Join Now Albinism Intro Contacts wanted ... Tools Welcome to the Albinism Trust This site is to support work in New Zealand fostering public understanding about Albinism. It is a developing work in support of formation of an "Albinism Trust". The Draft Trust Deed follows in two parts. Hit the left hand margin tab to read the parts (1) and (2) For further information or commet please email me ~ Allen Little QSM,JP It’s been good hearing from people after the short item in the Foundation of The Blind Magazine. It seems many of us have been pondering the idea of a Kiwi Albinism Support group for a long time and there’s a real need. My thoughts about such a group are it needs to be positive, helpful and accessible with a public information and an educational bent. Following a very successful meeting in Auckland on Saturday 24 th April 2004 we have begun work towards forming a new Albinism Trust An hour long TV documentary was shown at 8:30 PM on Thursday 12 August 2004 over TV3. Feedback and comments have been very encouraging. This prime time TV programme gave us an ideal launch pad for our new Albinism Trust.

70. Albinism albinism. DESCRIPTION A hereditary deficiency of pigmentation, involve the entire body (complete albinism) or a part of the body (incomplete albinism); http://www.tsbvi.edu/Education/anomalies/albinism.htm

ALBINISM DESCRIPTION: TREATMENT: Optical correction of refractive errors; tinted or pinhole contact lenses; absorptive lenses; optical aids, lowered illumination if needed; genetic counseling recommended. IMPLICATIONS: Adjust illumination to conditions and individual (i.e., control glare via seating and/or tinted lenses; use sunglasses and/or hat with visor outdoors). Classroom seating should be appropriate to the corrected refractive error and photophobia. Should be evaluated for low vision aids. Genetic implications should be noted. Related Websites: Albinism NOAH - The National Organization for Albinism and Hypopigmentation Albinism World Alliance Back to Contents ... Back to TSBVI Education

71. Social And Emotional Aspects Of Albinism Social attitudes toward albinism are often similar to those experienced by other albinism involves a visual impairment and in this light can be called a http://www.tsbvi.edu/Outreach/seehear/winter99/albinism.htm

Home Site TOC Site Search Outreach ... Winter 99 Table of Contents (Spanish Version) Social and Emotional Aspects of Albinism By June Waugh, MS, Licensed Marriage, Family and Child Counselor Reprinted with permission from The National Organization for Albinism and Hypopigmentation (NOAH) This bulletin explores how social attitudes influence the personal experience of albinism. These influences will vary from person to person and at different stages of life. In addition, the emotions associated with albinism will be explored. It is in the balance and interplay between the external world and each individual's internal response that a sense of self is born and sustained. Albinism is an important part of that sense of self. The First Influence: A Disability or Not? Neither the general public nor those with the condition agree about whether to identify albinism as a disability. This ambiguity creates a problem in the language used to talk about albinism. It also makes it difficult for those with albinism to identify themselves as a group. For many reasons albinism can be seen as a very unique condition. Its uniqueness, however, has led to separateness and isolation for many people. Social attitudes toward albinism are often similar to those experienced by other disability and minority groups. These attitudes include a lack of understanding, fear of the unknown, and prejudice based on appearance. The Americans with Disabilities Act defines disability with respect to an individual as "a physical or mental impairment that substantially limits one or more of the major life activities of such individual; a record of such an impairment; or being regarded as having such an impairment." Albinism involves a visual impairment and in this light can be called a visual disability. A handicap can be defined as "the obstacles a person encounters in the pursuit of goals in real life, no matter what their source." Thus a person with a disability may or may not be handicapped in pursuing the life they want to live.

72. Derm/cinema Evil List: Albinism William Frankfather as Whitey Jackson, Foul Play, 1978, albinism. Mel Smith as the Albino, Princess Bride, 1987, albinism http://itsb.ucsf.edu/~vcr/AlbinList.html

List of dermatologic findings used to convey evil Albinism If you know of examples of skin lesions in films that are not listed, send them via e-mail: vcr@skinema.com Previous list List Lobby Next List Albinism as manifestation of evil Actor, character Film year finding Tobin Bell as The Nordic Man The Firm Albinism-like pale skin and white hair William Frankfather as Whitey Jackson Foul Play Albinism Mel Smith as the Albino Princess Bride Albinism Sara Shearer as the Old Woman of the Deadites Army of Darkness Albinism Vincent Price as Roderick Usher Fall of the House of Usher Albinism Christopher Walken as Zorin A View to a Kill Albinism Bad Guy Dick Tracy Albinism Sean Patrick Flanery as Powder Powder Albinism, no hair (albinopecia) A Pale Rider The Four Horsemen of the Apocalypse Albinism with alopecia (albinopecia) The Strangers Dark City Albinism with alopecia (albinopecia) Max Shreck as Nosferatu Nosferatu Albinism with alopecia (albinopecia) Klaus Kinski as Nosferatu Nosferatu, Phantom der Nacht Albinism with alopecia (albinopecia) Willem Dafoe as Max Shreck Shadow of the Vampire Albinism with alopecia (albinopecia) Vampire Salem's Lot (TV) Albinism with alopecia (albinopecia) Bengt Ekerot as Death The Seventh Seal Albinism with alopecia (albinopecia) Sandi Findlay as Sly Moore Star Wars, Episode II: Attack of the Clones

73. Derm/cinema Freeze Frame--Albinos Is Hollywood prejudiced against people with albinism? People with albinism are pale with light hair and eyes. Because they are missing pigment that http://itsb.ucsf.edu/~vcr/Freeze3.html

Welcome to Skinemedia's online discussion site. Skinematic topics will be rotated each month or so. Please e-mail your ideas and input and your comments will be added to this page. To current topic To next topic Topic for January/February 1997: Is Hollywood prejudiced against people with albinism? What is albinism? Albinism is a genetic disorder that results in a deficiency or inability to produce melanin, the protein that gives pigment to the skin. People with albinism are pale with light hair and eyes. Because they are missing pigment that protects against sun damage, they are at great risk for skin cancers. Because melanin is crucial to the development of vision, people with albinism can have visual problems. Albinism affects men and women of all races, and because it is inherited, is not contagious. Most people with albinism have normal intelligence. Although there is currently no cure for albinism, gene therapy is being researched and could provide a potential treatment for this condition. Using sunscreen is crucial, as well as treating skin cancers as early as possible. Genetic conseling is also helpful to predict if the children of a person with albinism may be born with the condition. How is albinism depicted in movies?

74. Ocularalbinism Genetic Influence In Ocular Disorders using albinism as a Role Model for Study Ocular albinism is purely and typically genetic in nature. http://www.marchon.com/Prof. Courses/Ocular Albinism/ocularalbinism.html

Ocular Albinism Scroll down to review course CONTINUING EDUCATION PROGRAM Table of Contents Introduction Instructions About the Author Credits ... Answer Sheet Introduction This special issue dealing with genetic disorders of the eye is the first in our series of home-study, continuing education courses for optometrists. If you would like to receive future lessons for CECs or simply for their interest and benefit, we invite you to contact your Marchon sales representative or write directly to Marchon for a free copy. Ocular albinism is purely and typically genetic in nature. So your investigation of albinism actually serves as prototype for studying and understanding the basic principles behind other inherited eye diseases; for example, glaucoma, macular degeneration, and color-vision deficiency. But our text offers more: In addition to contributing to your understanding of genetic eye diseases in general, our updated material on albinism can be put to use clinically in your everyday optometric practice. This will prove to be especially useful in cases of "hidden" albinism. Details on how to carry out the multiple-choice examination are spelled out below. Note that, by obtaining a passing grade on the lesson's optional, multiple-choice examination, you will be entitled to two hours of continuing education credits toward your annual State Board relicensing. However, even if you're not looking for CECs and you don't intend to qualify, why not test your knowledge of the subject by taking the Q-and-A test for your own enlightenment and satisfaction?

75. Albinism Article describes the types of albinism which occur most often, their symptoms, diagnosis, and treatment. http://rarediseases.about.com/od/rarediseasesa/a/082704.htm

var zLb=12; var zIoa1 = new Array('Suggested Reading','Hermansky-Pudlak Syndrome','http://rarediseases.about.com/od/rarediseasesh/a/090404.htm','Waardenburg Syndrome','http://rarediseases.about.com/cs/waardenburgsynd/a/030704.htm'); var zIoa2 = new Array('Elsewhere on the Web','National Organization for Albinism and Hypopigmentation (NOAH)','http://www.albinism.org/','Albinism Fellowship UK','http://www.albinism.org.uk/'); zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases A - B Rare Diseases: A Albinism Rare Diseases Essentials Rare Diseases: Basic Information Rare Diseases Support Groups ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Rare / Orphan Diseases newsletter! See Online Courses Search Rare / Orphan Diseases Stay up to date! Compare Prices Email to a friend ... Print this page Suggested Reading Hermansky-Pudlak Syndrome Waardenburg Syndrome Elsewhere on the Web National Organization for Albinism and Hypopigmentation (NOAH) Albinism Fellowship UK Most Popular Muscular Dystrophy ALD and Lorenzo's Oil Progeria Syndromes Leprosy (Hansen's Disease) ... The Elephant Man What's Hot Muscular Dystrophy Autoimmune Kidney Disease Minamata Disease Charcot-Marie-Tooth Disease ... Meckel-Gruber Syndrome adunitCM(150,100,'x55')

76. Albinism albinism is a pigment deficiency that occurs rarely among birds and mammals, albinism is only one of many types of genetic pigmentation difference. http://www.acsu.buffalo.edu/~insrisg/nature/nw93/930830Albinism.htm

Albinism (This column was first published in the August 30, 1993 issue of The Buffalo News Mr. Arno Konstabel has observed an albino robin at his East Aurora home for several weeks and has sent me photographs of this bird. Although the film images are small, the features of this white robin are clear against the green of the Konstabels' lovely conifers. Albinism is a pigment deficiency that occurs rarely among birds and mammals, even including humans. The effects among birds vary from a few white feathers to all-white plumage. Totally albino birds also have pink eyes and pale legs and bill. Neither Mr. Konstabel nor I can make out whether the eyes of this robin are pink. They appear to be in one of his pictures, not in another. When it does occur, the pink is the color of blood vessels in the eyes that show through when the darker colors are absent. Many bird species like gulls have natural white pigmentation. Adult Iceland and glaucous gulls, for example, are all white, but they are not albinos. A group of us once misidentified a bird as a glaucous gull until Dick Collins pointed out its pink eyes: it was an albino herring gull. Several years ago Mike Galas and I observed a partially albino starling in a flock of normally pigmented birds.

77. Albinism A patient with oculocutaneous albinism with white eyebrows and lashes. . The patient may have oculocutaneous albinism or ocular albinism. http://www.mrcophth.com/iriscases/albinism.html

Albinism I ris transillumination in albinism A patient with oculocutaneous albinism with white eyebrows and lashes. The patient may have oculocutaneous albinism or ocular albinism. The former should be easy to detect because the patient has blond hair and white eyebrows and lashes. In the examination, the request may be examination of the anterior segment or ocular motility (convergent strabismus and nystagmus are common in albinism). The patient has blond hair and poliosis. There may be obvious nystagmus (usually pendular) and convergent strabismus. The iris shows transillumination. Other examination: Fundal examination may reveal macular hypoplasia (shown by absent foveal reflex and failure of the retinal vasculature to wreathe the fovea). The retina is hypopigmented making the choroidal vasculature easily visible. Questions: 1. How is albinism inherited? Answer The two most common forms of inheritance are X-linked recessive and autosomal recessive. Ocular albinism is usually X-linked recessive (also known as Nettleship-Falls type) whereas oculocutaneous form is commonly autosomal recessive.

78. FAQs/Albinism - AAPOS The word albinism refers to a large group of inherited conditions. People with albinism have little or no pigment in their eyes, skin, and/or hair. http://www.aapos.org/pubresources/FAQs-Albinism.htm

SEARCH SITE document.write('') AAPOS Public Resources  » FAQs/Albinism Albinism What is albinism? The word albinism refers to a large group of inherited conditions. People with albinism have little or no pigment in their eyes, skin, and/or hair. They have inherited genes that do not make the usual amounts of melanin, the major pigment giving color to our skin and eyes. How common is albinism? One person in 17,000 has some type of albinism. Albinism affects people from all races. Most children with albinism are born to parents who have normal hair and eye color for their ethnic backgrounds. Are there different types of albinism? These disorders are generally divided into two types. Oculocutaneous (pronounced Ock-you-low-kew-TAIN-ee-us) albinism involves decreased pigment in the eyes, hair, and skin. Ocular albinism involves primarily the eyes, while the skin and hair show normal or near-normal coloration. What causes albinism? Albinism is passed from parents to their children through genes. For most types of albinism, both parents must carry an albinism gene to have a child with albinism. Parents may have normal pigmentation but still carry the gene. When both parents carry the gene, and neither parent has albinism, there is a one-in-four chance at each pregnancy that the baby will be born with albinism. This type of inheritance is called autosomal recessive inheritance. What is X-linked ocular albinism?

79. [gecko]Albinism geckoalbinism. Keith Benson gecko@lists.gekkota.com Wed, 16 Apr 2003 172253 0400. Previous message geckoalbinism; Next message geckoFlorida http://lists.gekkota.com/pipermail/gecko/2003-April/001696.html

[gecko]Albinism Keith Benson gecko@lists.gekkota.com Wed, 16 Apr 2003 17:22:53 -0400 Previous message: [gecko]Albinism Next message: [gecko]Florida Geckos/anoles Messages sorted by: [ date ] [ thread ] [ subject ] [ author ] Ok, then, the race is on for the first albino Uroplatus! Now if I could just isolate that albino gene, and splice it into my non-albino animals! And I could take carotenoid genes from carrots and splice them in and get orange animals! Regards, Dr. Moreau -Original Message- From: Keith Benson [mailto: kgbenson@mindspring.com Sent: Wednesday, April 16, 2003 1:41 PM To: gecko@lists.gekkota.com Subject: Re: [gecko]Albinism Bingo - look at snakes, those that are tbred the most often ahve the most color "morphs". Personally I prefer wild type coloration. Millions of years of evolution and some one ruins it by backcrossing to have the next rarest thing. Keith KaRin ChAn wrote: I'm not positive, but I'm pretty sure it's only because these species (leopards and AFTS) have the most albinism occurrences because they had become so popular as "pets" since they were so hardy to keep. Ron

80. Dr. Koop - Albinism albinism refers to a group of related conditions. These conditions are the result of altered genes that cause a defect of production. http://www.drkoop.com/ency/93/001479.html

Home Health Reference Albinism Jul 29, 2005 Search: Dr.Koop MEDLINE Diseases Symptoms Procedures Natural Medicine ... Drug Library Inside DrKoop News Archive Animations Health Videos Health Tools ... Newsletters Albinism Injury Disease Nutrition Poison ... Prevention Albinism Definition: Albinism refers to a group of related conditions. These conditions are the result of altered genes that cause a defect of melanin production. This defect results in the partial or full absence of pigment from the skin, hair, and eyes. Alternative Names: Hypopigmentation; Oculocutaneous albinism; Ocular albinism Causes, incidence, and risk factors: Albinism results when the body is unable to produce or distribute pigment, called melanin, because of one of several possible genetic defects. In Type 1 albinism defects in the metabolism of tyrosine lead to failure in converting this amino acid to melanin. This is due to a genetic defect in tyrosinase the enzyme responsible for metabolizing tyrosine. Type 2 albinism is due to a defect in the "P" gene. Those with this type have slight pigmentation at birth. In the most severe form of albinism (called oculocutaneous albinism), those affected appear to have hair, skin, and iris color that are white or pink as well as vision defects. This is inherited via an autosomal recessive process.

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