Geometry.Net - Health_Conditions: Albinism

Albinism
albinism. Back to previous level albinism, Ocular Search PUBMEDfor albinism, Ocular All Review Therapy Diagnosis; albinism, OCULAR
http://www.ohsu.edu/cliniweb/C17/C17.800.827.130.html
Living With Ocular Albinism
Search RNIB site for Living with ocular albinism. I shall never forget the day mywife and I learned of our baby son's disability. Living with ocular albinism.
http://www.rnib.org.uk/info/ocalb.htm

Extractions: Search RNIB site for: I shall never forget the day my wife and I learned of our baby son's disability. The pregnancy and delivery had been straightforward and, having two daughters already, we had been overjoyed to have a boy. The girls had instantly started to mother him. It was an extremely anxious wait. We could not help ourselves guessing agonisingly about what the problem might be. Was Sebastian totally blind? Was it the first of a series of disabilities they would discover? Why had this happened to him? We had nothing to guide us, the future was an unknown. The paediatrician made a tentative diagnosis of ocular albinism and, equally importantly, reassured us that Sebastian was otherwise healthy. She referred us on to an ophthalmologist who, at last, was able to start answering our questions. Ocular albinism is a rare inherited condition affecting about one in 50,000 of the UK population. People with ocular albinism have the same eye problems as albinos (although without the lack of skin pigmentation). As the inside of the eye lacks its dark pigment lining, light bounces around inside the eyeball causing a blurred image. The retina fails to develop fully and visual clarity is significantly reduced, especially for distance vision which may be around 6/60. Sight is worse in bright light, which is also uncomfortable. Sebastian was given eye patches to wear several hours a day for his squint. He would only keep them on if distracted, and my wife spent hours trying to keep him amused. Even then the patch would be off as soon as her back was turned. As Sebastian became cleverer at the game, we found that it disappeared ... to be discovered later stuck to the underside of his highchair!
EMedicine - Albinism : Article By Raymond E Boissy, PhD
albinism The classification of congenital hypopigmentary diseases that resultfrom a defect in the production of pigment (melanin) due to dysfunction of
http://www.emedicine.com/derm/topic12.htm

Extractions: (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Dermatology Diseases Of Pigmentation Last Updated: November 2, 2001 Rate this Article Email to a Colleague AUTHOR INFORMATION Section 1 of 9 Author Information Introduction Clinical Differentials ... Bibliography Author: Raymond E Boissy, PhD , Director of Basic Science Research, Professor, Departments of Dermatology and Cell Biology, University of Cincinnati College of Medicine Coauthor(s): James J Nordlund, MD , Professor, Department of Dermatology, University of Cincinnati College of Medicine Raymond E Boissy, PhD, is a member of the following medical societies: American Association for Advancement of Science , and Sigma Xi Editor(s): Jean Paul Ortonne, MD , Chair, Professor, Department of Dermatology, Hôpital L'Archet, Nice University, France; Richard Vinson, MD , Chief, Department of Dermatology, William Beaumont Medical Center; Van Perry, MD
EMedicine - Albinism : Article By Khalid Hasanee, MD
albinism albinism consists of a group of inherited abnormalities of melanin synthesistypically characterized by a congenital reduction or absence of melanin
http://www.emedicine.com/oph/topic315.htm

Extractions: (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Ophthalmology Genetic Disorders Last Updated: October 10, 2001 Rate this Article Email to a Colleague Synonyms and related keywords: oculocutaneous albinism, ocular albinism AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Khalid Hasanee, MD , Staff Physician, Department of Ophthalmology, Queen's University School of Medicine, Canada Coauthor(s): Iqbal Ike K Ahmed, MD, FRCSC , Clinical Assistant Professor, Department of Ophthalmology, University of Utah Khalid Hasanee, MD, is a member of the following medical societies: Canadian Ophthalmological Society Editor(s): Gerhard W Cibis, MD , Director of Pediatric Ophthalmology Service, Clinical Professor, Department of Ophthalmology, University of Kansas; Director, Clinical Professor, Department of Ophthalmology, Children's Mercy Hospital, University of Missouri at Kansas City; Francisco Talavera, PharmD, PhD
Huden - Albinism
albinism. Total (okulokutan) albinism är det allvarligaste tillståndet och kanvara kombinerat med förståndshandikapp, dövstumhet, polydactyli mm.
http://www.neuro.ki.se/neuro/KK2/hud23.html

Extractions: Albinism En grupp sällsynta, ärftliga tillstånd med avsaknad av pigment (melanin) i huden (inklusive hår) och/eller ögonen (retina, iris och choroidea). Namnet härleder från latinets albus som betyder vit. Total (okulokutan) albinism är det allvarligaste tillståndet och kan vara kombinerat med förståndshandikapp, dövstumhet, polydactyli mm. Det nedärvs recessivt. Det förekommer också former med partiell, inkomplett pigmentdefekt, liksom former med fläckvis pigmentbortfall. De senare nedärvs ofta dominant, är mindre allvarliga, och skiljer sig från vitiligo genom att sakna en hyperpigmenterad kant och genom att förändringen är medfödd och inte ändrar sig med tiden. Avsaknaden av skyddande melanin i huden leder till ökad känslighet, tidiga åldersförändringar och olika sjukliga tillstånd i huden, t ex hudcancer. Hudfärgen beskrivs som gulblek eller vitrosa. Okulär albinism är associerad med utvecklingsrubbningar i ögonen (ex abnorm korsning av fibrer i nervus opticus och underutvecklad fovea centralis), och olika ögonsymptom (ex fotofobi och nystagmus). Iris blir rosa och pupillen röd pga ljusets reflektion i ögonbotten.
Pedigree: Two Forms Of Albinism
Pedigree Two Forms of albinism. albinism (absence of melanin pigment)is inherited as an autosomal recessive trait. The left portion
http://www.people.virginia.edu/~rjh9u/albinoped.html

Extractions: 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.
Social Issues Of Albinism @ Www.ezboard.com
A place for people to discuss social issues surrounding the condition ofalbinism. Gold Community Social issues of albinism. Invite Friends!
http://pub95.ezboard.com/bsocialissuesofalbinism
The DRM WebWatcher: Albinism
A Disability Resources Monthly guide to the bestonline resources about albinism.
http://www.disabilityresources.org/ALBINISM.html
Natalie's Way Foundation International Albinism Center Information Donation Chil
Disbursements. International albinism Center. The Vision of Children. May 11, 2001.The International albinism Center University of Minnesota Dr. Richard A. King.
http://www.ourwebpage.org/nwf/internationalalbinism.htm

Extractions: Dr. King, My name is Robert Stasi and I am the founder of the Natalies Way Foundation. This corporation was formed in the honor of my daughter Natalie who four years ago was born with Oculocutaneous Albinism (OCA). After researching the progress being made in OCA and childrens eye disorders, my wife and I decided not to sit idle, but to make a difference. In December of 2000 we proceeded to form Natalies Way Foundation and planned our 1st Annual Natalies Way Foundation Golf Outing. The golf and dinner benefit was held on April 25, 2001 at LaTourette Golf Course in Staten Island, NY, and we had approximately 200 attendees, and raised in excess of $25,000 for our cause. The benefit clearly proved to be a huge success for our foundation and a positive future endeavor. On behalf of Natalies Way Foundation and my daughter Natalie, it is our pleasure to present you with the enclosed check for $10,000.00 to fund research for children who are born with Oculocutaneous Albinism and all that it effects.
HealthlinkUSA Albinism Links
family. AhHa. Click here for page 1 of albinism information fromthe HealthlinkUSA directory. Save on Drugs Here. Accutane; Allegra;
http://www.healthlinkusa.com/7ent.htm
Albinism (Knowlton Homepage)
Bianca's homepage on albinism through the eyes of Bianca. A part of the KnowltonHomepage. The family that is crazier than a coconut mAd. albinism Fellowship.
http://www.knowlton.clara.net/family/Albinism/bianca.htm

Extractions: To check out the rest of the family and all there exploits here & around the world..... click "home" Hi, we 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. Plus for the visually impaired Larger print versions Watch this section of the site, its just getting started...... what is albinism parents viewpoint what do I see photo's ... photo album
Albinism; What Is Albinism(Knowlton Homepage)
A look at all the technical stuff about albinism but in a simplistic way. a partof the Knowlton Homepage, England. WHAT IS albinism. The Technical stuff.
http://www.knowlton.clara.net/family/Albinism/what_is_albinism.htm

Extractions: c (more information coming....) 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. 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". Vision Problems top ) People with albinism always have problems with vision, and many have low vision. Many are "legally blind," but most use their vision for reading, and do not use Braille. Some have vision good enough to drive a car.
Albinism In Sharks
albinism in Sharks. The relative sharks. Below is a list of all shark speciesin which partial or full albinism is known to date Broadnose
http://www.elasmo-research.org/education/topics/p_albinism_in_sharks.htm

Extractions: Biology of Sharks and Rays Education: Topics in Shark Biology text and illustrations by R. Aidan Martin Home Site Map Search ... Sensory Biology Physiology Albinism in Sharks Biological Batteries Cold Fire in the Sea Fire in the Belly of the Beast ... Shark Cartilage Quackery The relative darkness or lightness of a given shark species may vary enormously among individuals. A few species of sharks, such as the Dusky Smoothhound ( Mustelus canis ) can gradually change their color after moving from one habitat to another. Other species, such as the Blacktip Shark ( Carcharhinus limbatus ), may temporarily lose virtually all their pigmentation during "whitings", which are poorly understood blooms of shelled protozoans called "coccolithophores". But true albinos - resulting from a blocked gene crucial to pigment formation - seem to be very rare among sharks. Below is a list of all shark species in which partial or full albinism is known to date: Broadnose Sevengill Shark ( Notorhynchus cepedianus ) - partial Scalloped Hammerhead Shark ( Sphyrna lewini Why is albinism so rare among sharks? Probably because being snow white makes them highly visible to both prey and predators, so it is unlikely they would long survive. Indeed, most albinistic shark specimens are young individuals. But a few - such as the Zebra Shark case listed above, which was 6 feet (1.85 metres) long - were quite large and may have been reproductively mature. Yet, if shark pigmentation patterns play a role in courtship signaling and other agonistic displays, it seems unlikely that an albino shark would compete effectively against 'normally' pigmented members of their own species.
NIH Guide: OCULAR ALBINISM (OA1) AND RETINAL GANGLION CELL DEVELOPMENT
OCULAR albinism (OA1) AND RETINAL GANGLION CELL DEVELOPMENT RELEASE DATE January14, 2003 RFA EY03-003 National Eye Institute (NEI) (http//www.nei.nih.gov
http://grants.nih.gov/grants/guide/rfa-files/RFA-EY-03-003.html

Extractions: OCULAR ALBINISM (OA1) AND RETINAL GANGLION CELL DEVELOPMENT RELEASE DATE: January 14, 2003 RFA: EY-03-003 National Eye Institute (NEI) ( http://www.nei.nih.gov http://grants.nih.gov/grants/funding/modular/modular.htm pad@nei.nih.gov o Direct your questions about peer review issues to: Samuel C. Rawlings, Ph.D. Chief, Scientific Review Branch National Eye Institute Executive Plaza South, Suite 350 6120 Executive Blvd, MSC 7164 Bethesda MD 20892-7164 Telephone: (301) 496-5561 FAX: (301) 402-0528 Email: rawlings@nei.nih.gov o Direct your questions about financial or grants management matters to: William W. Darby Grants Management Officer National Eye Institute Executive Plaza South, Suite 350 6120 Executive Blvd, MSC 7164 Bethesda MD 20892-7164 Telephone: (301) 496-5884 FAX: (301) 496-9997 Email: wwd@nei.nih.gov SUBMITTING AN APPLICATION Applications must be prepared using the PHS 398 research grant application instructions and forms (rev. 5/2001). The PHS 398 is available at http://grants.nih.gov/grants/funding/phs398/phs398.html
NIH Guide: OCULAR ALBINISM AND THE NEUROSCIENCE OF RETINAL GANGLION CELL AXON GU
OCULAR albinism AND THE NEUROSCIENCE OF RETINAL GANGLION CELL AXON GUIDANCE RELEASEDATE January 14, 2002 RFA RFAEY-02-001 PARTICIPATING INSTITUTES AND
http://grants.nih.gov/grants/guide/rfa-files/RFA-EY-02-001.html

Extractions: OCULAR ALBINISM AND THE NEUROSCIENCE OF RETINAL GANGLION CELL AXON GUIDANCE RELEASE DATE: January 14, 2002 RFA: RFA-EY-02-001 PARTICIPATING INSTITUTES AND CENTERS (ICs): National Eye Institute ( http://www.nei.nih.gov http://grants.nih.gov/grants/funding/modular/modular.htm pad@nei.nih.gov o Direct your questions about peer review issues to: Samuel C. Rawlings, Ph.D. Chief, Scientific Review Branch National Eye Institute Executive Plaza South, Suite 350 6120 Executive Blvd, MSC 7164 Bethesda, MD 20892-7164 Telephone: (301) 496-5561 FAX: (301) 402-0528 Email: rawlings@nei.nih.gov o Direct your questions about financial or grants management matters to: William W. Darby Grants Management Officer National Eye Institute Executive Plaza South, Suite 350 6120 Executive Blvd, MSC 7164 Bethesda, MD 20892-7164 Telephone: (301) 496-5884 FAX: (301) 496-9997 Email: wwd@nei.nih.gov SUBMITTING AN APPLICATION Applications must be prepared using the PHS 398 research grant application instructions and forms (rev. 5/2001). The PHS 398 is available at http://grants.nih.gov/grants/funding/phs398/phs398.html
Sort It! - Eye Information - Albinism
cloudy. albinism. When people are born with little or no colour (or pigment)in their eyes, skin and hair. albinism. What is albinism? There
http://www.sortit.org.uk/eyecond_alb.htm

Extractions: There are two main types of albinism. The first is when people are born with little or no colour (or pigment) in their eyes, skin and hair. This means that they may have pale skin and very light blonde hair. The second type of albinism only affects people's eyes. However, they may still have slightly paler skin and lighter hair than other members of their family.
Albinism
Menu. Oculocutaneous albinism (six distinct types). Carrier detection. Prenatal diagnosis.Possible for 20310 (oculocutaneous albinism, tyrosinase) Chromosome 11
http://oxmedinfo.jr2.ox.ac.uk/Pathway/Disease/12334.htm
Albinism
DEFINITION. albinism refers to a group of inherited conditions. People withalbinism have absent or reduced pigment in their eyes, skin or hair.
http://www.blindpreschool.ca/fact04.html

Extractions: 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-Iinked 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)
White Doberman , White Dobermans -- Facts About Albino Dobermans
white Dobermans. We present scientific explanations of albinism, behavioraland health problems, reports by owners, and much more.
http://www.geocities.com/~amazondoc/albinism/
Untitled
What is albinism? The term albinism encompasses a wide range of traits, allof which result from problems with pigment production or distribution.
http://www.geocities.com/~amazondoc/albinism/textframe2.html

Extractions: last update 10/18/02 The term "albinism" encompasses a wide range of traits, all of which result from problems with pigment production or distribution. So far, more than 60 different mutations have been isolated from many different species. Many of these mutations and their subsequent effects have been found to be identical in both humans and non-humans. Since the basic mechanisms for pigment production are nearly identical across all mammals, most data gathered from one species can easily be applied to other species. The various albino mutations may act in different ways and may occur at several different sites, but the end result is always a defect in the amount of pigment being produced and/or distributed. To see databases of some of the many types of albinistic mutations already described in humans and mice, look here and here.

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