1. ABOUT THE BOOK, UNDERSTANDING AND COPING WITH ACHROMATOPSIA About the Book. Understanding and Coping with achromatopsia (9th revision) and Coping with achromatopsia What is achromatopsia? What is it like to have The genetics of blue cone monochromacy. Achromats who see color. Getting diagnosed. achromatopsia in print http://www.achromat.org/uc_book.html

About the Book Understanding and Coping with Achromatopsia (9th revision) This 160-page, spiral bound book, first published in 1998 and updated in 2003, presents a substantial amount of helpful and interesting information pertaining to achromatopsia. This is a very useful book not only for individuals and families who are affected by this rare vision disorder but also for vision care professionals, special education teachers, counselors, and other professionals who work with the visually impaired. The information that is included in this book was gathered in various ways, including input from members of the Achromatopsia Network, library research, and consultations with specialists in different fields. The author, Frances Futterman, has complete achromatopsia. She serves as facilitator of the network and also editor and reporter for the Achromatopsia Network Journal. Following are titles from the Table of Contents page of the current edition of Understanding and Coping with Achromatopsia: What is achromatopsia? What is it like to have achromatopsia?

2. GENETICS and the disease s relation to genetics. Phenylketonuria brief definition; goodfor Middle School students. top. Color Blindness. The achromatopsia Network. http://library.brynmawrschool.org/genetics_project.htm

LOWER SCHOOL LIBRARY Site Map Libraries' Home Bryn Mawr Home EDITH HAMILTON LIBRARY Online Catalog Quick Finder (Search the Libraries' Site) Tips for searching Online Catalog Selected Websites Virtual Internet Library Alphabetical Index of Virtual Internet Library - Click on a letter to begin A B C D ... Z GENETICS PROJECT For resources from the Bryn Mawr Library, click on Bibliography . Also, search on SIRS Discoverer and ProQuest, which are periodical subscription databases accessible from the library's main page. Go to "Virtual Internet Library," then "Online Resources." Using the resources provided, you should be able to determine the causes, symptoms, treatments, and the ways they are inherited for the following genetic disorders: Websites useful for more than one disease Achondroplasia (dwarfism) Neurofibromatosis (elephant man's disease) Albinism ... Huntington's Disease Websites Useful for More than One Topic: DNA from the Beginning, an Animated Primer on the Basics of DNA, Genes, and Heredity - Prepared by the Dolan DNA Learning Center, Cold Spring Harbor, NY. DNA Interactive - Also from Dolan DNA Learning Center; Excellent Graphics

3. Ask NOAH About: Genetic Disorders have for Your genetics Specialist Mountain States genetics Network Research - Genetic Alliance. genetics and Medications (Pharmacogenetics) Specific Disorders. achromatopsia http://www.noah-health.org/english/illness/genetic_diseases/geneticdis.html

Ask NOAH About: Genetic Disorders Ask NOAH About: Genetic Disorders is a work-in-progess on diseases that have a known or suspected genetic origin. This page will attempt to keep pace with the the Human Genome Project's published breakthoughs on genetic medicine. If the genetic disorder you need information on is not listed here, please try the NOAH search engine . For information on basic genetics, please visit Ask NOAH About: Genetics, Genomes, Cell Biology, and Cloning What are Genetic Disorders? Genetics Basics The Basics Glossaries Children ... Living with Genetic Diseases Specific Conditions Achromatopsia Adrenoleukodystrophy Aicardi Syndrome Albinism/Hypopigmentation ... Information Resources What Are Genetic Disorders? Genetics Basics The Basics Birth Defects - Merck Manual, 2nd Home Edition Birth Defects - March of Dimes (NOAH PROVIDER) (also in Spanish Changes to Chromosomes - New South Wales Genetics Program, Australia Changes to Chromosomes: Translocations - New South Wales Genetics Program, Australia An Introduction to Genetics and Genetic Testing - Kidshealth ... Genetics and Neuromuscular Diseases - Muscular Dystrophy Association (also in Spanish Genetics Overview - Merck Manual Home Edition Genes and Disease - NCBI ... Genes and Populations - National Institute of General Medical Sciences (also in Spanish Heritable Disorders of Connective Tissue - NIAMS Impact of Medical Genetics - Mountain States Genetics Network Simply Stated: Genetic Myths - Muscular Dystrophy Association ... What are Genetic Disorders? - University of Utah

4. J Med Genet -- Abstracts: Aligianis Et Al. 39 (9): 656 Journal of Medical genetics. SHORT REPORT. Mapping of a novel locus for achromatopsia (ACHM4) to 1p Section of Medical and Molecular genetics, Department of Paediatrics and Child http://jmg.bmjjournals.com/cgi/content/abstract/39/9/656

HOME HELP FEEDBACK SUBSCRIPTIONS ... Email this link to a friend eLetters: Submit a response to this article Similar articles found in: J Med Genet PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: Aligianis, I A Maher, E R Alert me when: new articles cite this article Download to Citation Manager Collections under which this article appears: Genetics Journal of Medical Genetics Journal of Medical Genetics SHORT REPORT Mapping of a novel locus for achromatopsia ( ) to 1p and identification of a germline mutation in the subunit of cone transducin ( I A Aligianis T Forshew S Johnson M Michaelides C A Johnson R C Trembath D M Hunt A T Moore and E R Maher Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK West Midlands Regional Genetics Service, Birmingham Women's Hospital, Birmingham B15 2TG, UK Institute of Ophthalmology, University College London, 11-43 Bath Street, London EC1V 9EV, UK Division of Medical Genetics, Departments of Medicine and Genetics, University of Leicester, Leicester LE1 7RH, UK

5. Achromatopsia Image that s a link to genetics Education Center Support Page achromatopsia.rod monochromacy and blue cone monochromacy. achromatopsia http://www.kumc.edu/gec/support/achromat.html

Achromatopsia rod monochromacy and blue cone monochromacy Achromatopsia Network P.O. Box 214 Berkeley, CA 94701-0214 USA E-mail: Editor@achromat.org (Frances Futterman, network facilitator) Vision disorder, including both rod monochromacy and blue cone monochromacy. Also information on other vision disorders with similar visual manifestations, such as hypersensitivity to light and color vision deficiency Book, Understanding and Coping with Achromatopsia Book, Living with Achromatopsia Book, Complete Colorblindness PBS documentary, Island of the Colorblind Book, The Island of the Colorblind , by Oliver Sacks Also See: National Genetic Organizations and Lay advocacy Groups To locate a genetic counselor or clinical geneticist: Professional Genetics Societies Genetic clinics, centers, departments Genetic Societies Clinical Resources ... Search Genetics Education Center Debra Collins, M.S. CGC , Genetic Counselor, dcollins@kumc.edu This site subscribes to the principles of the HONcode (Health on the Net, Code of Conduct for Medical and Health Web Sites)

6. Achromatopsia Links to information and resources for achromatopsia. achromatopsia is a rare hereditary vision disorder which results in poor visual OMIM achromatopsia. genetics division, Online Mendelian http://rarediseases.about.com/cs/achromatopsia?iam=savvy&terms= achromatopsi

7. Achromatopsia And The Underlying Bioelectrochemistry The authors of the above geneticsbased papers have offerred their explanation ofthe cause of achromatopsia based on their reading of the conventional wisdom. http://www.4colorvision.com/clinical/achromatopsia.htm

DETERMINING THE BIOLOGICAL (FUNCTIONAL) LOCUS OF ACHROMATOPSIA AS A SYNDROME based on PROCESSES IN BIOLOGICAL VISION by JAMES T. FULTON Last Update 01 March 04 Rhodonine and Activa are trademarks A CAUTION There must be a distinct line between the medical and biological aspects of syndromes as serious as achromatopsia. This material should not be considered medical advice. Subjects aware of this syndrome should speak with their doctor. This webpage does not offer any alleviation of these symptoms in the near future. Because of the currency of some of the material presented below, students subject to rote testing based on the content of their textbooks are encouraged to review the Cautions Page before proceeding. Others may find the material controversial. However, the results speak for themselves. INTRODUCTION Achromatopsia (with an s) is a stationary congenital syndrome that is easily recognized in the clinic. It typically presents five different individual symptoms: Photophobia Nystagmus Amblyopia Achromatopia (without an s) Iris operating abnormalities Each of the above symptoms may appear independently and without association with Achromatopsia. In such case, they may be caused by other underlying disease. Abnormal iris operation is common but frequently undocumented.

8. Homozygosity Mapping Of The Achromatopsia Locus In The Pingelapese 1679Homozygosity Mapping of the achromatopsia Locus in the PingelapeseJeffrey and Mokil atollsachromatopsia. Am J Hum Genet 24304309Jager W (1972) genetics of congenital colour http://linkage.rockefeller.edu/pub/winick99.pdf

9. Entrez PubMed Section of Medical and Molecular genetics, Department of Paediatrics and Child OBJECTIVETo determine the molecular basis for achromatopsia using autozygosity http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

10. Entrez PubMed Linkage of achromatopsia to chromosome 2 is an essential first step in Color VisionDefects/genetics*; Comparative Study; Female; Founder Effect; Genetic Markers; http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?holding=npg&cmd=Retrieve&db=PubMed

11. Birth Defects Genetics Teratology Other Key Information Sources genetics Clinic Directory An introduction to genetic counseling and testing concepts . Genetic/Rare Conditions Support Groups Information. Aarskog syndrome achromatopsia http://www.ibis-birthdefects.org/start/inform.htm

Tips for printing Birth Defects - Genetics - Teratology Other Key Information Sources About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... Etchings A Selection of Internet Sites [*] Outstanding [P] For Professionals [French] [Italian] Information Sources Health Topics A to Z CDC Centers for Disease Control and Prevention Neonatal Diseases and Abnormalities (Mega-Portal) [French] [English] ORPHA net. Search for a drug PEDINFO: An Index of the Pediatric Internet Office of Rare Diseases Genetics Education Center ... Genetics Disorders Search Engine By About.com Office of Rare Diseases National Institutes of Health Clinical Research Database National Institute of Neurological Disorders and Stroke Publications ... Aicardi Syndrome ... Anencephaly ... Angelman Syndrome ... Endocrine Society Fact Sheets Alphabetical List of Specific Diseases/Disorders Karolinska Institutet, Stockholm, Sweden. Developmental (Pediatric) Neurosurgery Information Links Musculoskeletal Diseases (Mega-Portal) View Dysmorphic Syndrome Features A Catalogue of Web pages describing particular abnormalities diagnosable by ultrasound [Italian][P][**] INDICE delle malattie CHORUS Collaborative Hypertext of Radiology Medical College of Wisconsin ...

12. GENETICS genetics. Directory of National Genetic Organizations Support Groups. NIH Office of Rare Diseases. achromatopsia Network. Achondroplasia. AtaxiaTelangiectasia-A-T http://www.bhs1.org/rr/genetics.htm

GENETICS Directory of National Genetic Organizations Support Groups NIH Office of Rare Diseases Achromatopsia Network Achondroplasia ... BACK

13. How Do People Inherit Colorblindness? How Often? People who are protans (red weak) and deutans (green weak) comprise 99% of this group.Molecular genetics. People with achromatopsia and blue cone monochromacy. http://webexhibits.org/causesofcolor/2C.html

Related pages: Appearance Types Genetics Testing Classification Incidence (%) Males Females Anomalous Trichromacy Protanomaly (L-cone defect) Deuteranomaly (M-cone defect) Tritanomaly (S-cone defect) Dichromacy Protanopia (L-cone absent) Deuteranopia (M-cone absent) Tritanopia (S-cone absent) Rod Monochromacy (no cones) Most kinds of congenital colorblindness are caused by defects in the X chromosome. Since females have two X chromosomes and males have an X chromosome and a Y chromosome, colorblindness is much more common in males: females must have defects in both chromosomes before they exhibit colorblindness. A female with the colorblindness defect in one X chromosome is a carrier of colorblindness. Male children of a female carrier are as likely to be colorblind as male children of a male with colorblindness, and male children of a male with colorblindness and a female carrier are extremely likely to be colorblind. Approximately 5% to 8% of the men and 0.5% of the women of the world are born colorblind. That's as high as one out of twelve men and one out of two hundred women. People who are protans (red weak) and deutans (green weak) comprise 99% of this group. Molecular genetics The M- and L-cone photopigment genes lie in a head to tail tandem array on the q-arm of the X-chromosome.

14. Esm_klug_genetics_7|Population Genetics|Web Search Population genetics. Web Search. The Internet is filled with pseudoscience and misinformation. It is in your best interest to learn how to critically evaluate the acuracy and relevance of all information. achromatopsia. consanguineous marriage. gene pool. genetic drift. genetic variability. Hardy Weinberg law. hybrid vigor. inbreeding. mutation. natural selection. population genetics http://wps.prenhall.com/esm_klug_genetics_7/0,4803,249084-,00.html

Home Population Genetics Web Search Population Genetics Web Search The Internet is filled with pseudoscience and misinformation. It is in your best interest to learn how to critically evaluate the acuracy and relevance of all information. The following resource offers guidance as you develop your critical review skills with these chapter terms. Testing the Surf http://info.lib.uh.edu/pr/v8/n3/smit8n3.html Smith, Alastiar G. "Testing the Surf: Criteria for Evaluating Internet Information Resources." The Public-Access Computer Systems Review 8, no.3 (1997). (Refereed Article) This article offers a review of criteria for evaluating on-line content. Search the Web: Select one or more of the search terms in the list at right, then use the search buttons below to find pages on the Web which include those terms. Search in: Search Terms: achondroplasia achromatopsia consanguineous marriage gene pool ... Prentice-Hall, Inc. A Pearson Company Legal Notice

15. Achromatopsia,achromatopsia,achromatopsia,achromatopsia,achromat,achromatope,ach at The Johns Hopkins University reported in the July 2000 issue of Nature genetics(25 289293) that Pingelapese islanders with achromatopsia have a single http://www.icomm.ca/geneinfo/achromat.htm

achromatopsia,achromatopsia,achromatopsia,achromatopsia,achromat,achromatope,achromatopic For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Acromatopsia also known as: Congenital Achromatopsia (as defined at http://www.achromat.org/what_is_achromatopsia.html What Is Achromatopsia? Congenital achromatopsia is a rare hereditary vision disorder which affects 1 person in 33,000 in the U. S. The incidence varies in different parts of the world. Persons who have achromatopsia do not have normal "cone vision." In normal eyes there are 6 million cone photoreceptors, located mostly at the center of the retina. Persons with complete achromatopsia must rely on their "rod vision." In the normal eye there are 100 million rod photoreceptors. Rods are located mostly at the periphery of the retina. Rods "saturate" at higher levels of illumination. Rods do not provide color vision or good detail vision. Therefore, persons with achromatopsia are either totally colorblind or almost totally colorblind, and they have poor visual acuity. Without normal cone vision, their eyes are not able to adapt normally to higher levels of illumination.

16. Blackwell Synergy - Cookie Absent Li, Milunsky, Jeff, DeStefano, Anita Baldwin, Clinton T (1999) A locus for autosomalrecessive achromatopsia on human chromosome 8q. Clinical genetics 56 (1 http://dx.doi.org/10.1034/j.1399-0004.1999.560112.x

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17. The University Of Chicago Press - Doi:10.1086/302423 Morton NE (1972) Pingelap and Mokil atolls achromatopsia. Am J Hum Genet 24304309 First citation in article PubMed; Jager W (1972) genetics of congenital http://dx.doi.org/10.1086/302423

Published by the University of Chicago Press Title Homozygosity Mapping of the Achromatopsia Locus in the Pingelapese Author(s) Jeffrey D. Winick, Maude L. Blundell, Brandi L. Galke, Ambar A. Salam, Suzanne M. Leal, and Maria Karayiorgou Identifiers The American Journal of Human Genetics , volume 64 (1999), page 1679 DOI: PubMed ID: Availability This site: HTML PDF PS Abstract Achromatopsia, or total color blindness (also referred to as "rod monochromacy"), is a severe retinal disorder characterized clinically by an inability to distinguish colors, impaired visual acuity in daylight, photophobia, and nystagmus. Inherited as an autosomal recessive trait, achromatopsia is rare in the general population (1:20,000 1:50,000). Among the Pingelapese people of the Eastern Caroline Islands, however, the disorder occurs at an extremely high frequency, as recounted in Oliver Sacks's popular book The Island of the Colorblind 10% of this island population have the disorder and 30% carry the gene. This extraordinary enrichment of the disease allele most likely resulted from a sharp reduction in population in the late 18th century, in the aftermath of a typhoon and subsequent geographic and cultural isolation. To obtain insights into the genetic basis of achromatopsia, as well as into the genetic history of this region of Micronesia, a genomewide search for linkage was performed in three Pingelapese kindreds with achromatopsia. A two-step search was used with a DNA pooling strategy, followed by genotyping of individual family members. Genetic markers that displayed a shift toward homozygosity in the affected DNA pool were used to genotype individual members of the kindreds, and an achromatopsia locus was identified on 8q21

18. Ask NOAH About: The Eye The achromatopsia Network Amblyopia Retinitis Pigmentosa Eye Clinic and RetinitisPigmentosa British Retinitis Pigmentosa Society genetics and Retinitis http://www.noah-health.org/english/illness/eye/eye.html

Ask NOAH About: The Eye Common Eye Health Topics Care and Treatment Basic Eye Information Basic Anatomy Normal Vision Optical Illusions ... Social Resources Related Concern Information Resources Eye Care Special Concerns Clinical Trials and New Medications Enucleation and Orbital Implants Eye Health and Safety ... Research Common Eye Health Topics Basic Eye Information Anatomy Eye Anatomy - Phillips Eye Institute Physical Structures of the Eye - Univ of Pennsylvania Glossary - Boston University Glossary of Eye Terminology - Methodist Health Care System, Houston TX (also in Spanish The Eyes (Complete Home Medical Guide/Columbia University Heredity of Eye Color - McGraw Hill How We See Things That Move - Howard Hughes Medical Institute, Chevy Chase, MD ... What Is the Blind Spot? - Serendip Normal Vision 20/20 Vision - American Optometric Association (AOA) Find good habits for good eyes - American Association of Retired Persons Infants' Vision - American Optometric Association (AOA) Your School-age Child's Eyes - American Optometric Association (AOA) ... Vision Changes During Pregnancy - BabyZone Optical Illusions Fading Dot - The Exploratorium, San Francisco CA

19. Wilmer History Timeline islanders and the discovery of the achromatopsia gene by Olof H. Sundin, Ph.D., butalso groundbreaking work in the new fields of molecular genetics and biology http://www.wilmer.jhu.edu/history/genetics.html

When Irene Maumenee, M.D., the Ort Family Professor of Ophthalmology, founded the first Center for Hereditary Eye Diseases at Wilmer, she helped establish an area of ophthalmic research which today includes not only her classic studies of achromatopsia (lack of color vision) among Micronesian islanders and the discovery of the achromatopsia gene by Olof H. Sundin, Ph.D., but also groundbreaking work in the new fields of molecular genetics and biology, pursued in several laboratories throughout the Institute. The goal of the molecular researchers is to develop new tools to diagnose, prevent, and even cure major blinding diseases such as age-related macular degeneration and diabetic retinopathy For example, the laboratory of Peter A. Campochiaro, M.D., the George S. and Dolores Dora Eccles Professor of Ophthalmology, is investigating, among many other topics, the role of vascular endothelial growth factor in macular degeneration and diabetic retinopathy, and the possibility of stopping abnormal blood vessel growth using an oral medication. Dr. Campochiaro and Betsy Campochiaro, R.N., his wife, together with Donald Zack, M.D., Ph.D., have launched the Wilmer Genetic Study of Macular Degeneration, involving DNA analysis of thousands of people over several years. They have recently discovered genetic mutations involved in the disease.

20. The Johns Hopkins Center For Hereditary Eye Diseases for the genes causing Leber’s congenital amaurosis, achromatopsia, and nystagmus. IreneH. Maumenee, MD developed the subspecialty of ophthalmic genetics. http://www.wilmer.jhu.edu/research/hered.htm

The Johns Hopkins Center for Hereditary Eye Diseases An International Referral Center for Genetic Eye Diseases and Ocular Diseases of Childhood Many eye diseases have a genetic component; similarly, many genetic diseases and birth defects have significant ocular pathology. Irene H. Maumenee, M.D The Laboratory of the Johns Hopkins Center for Hereditary Eye Diseases has developed a DNA registry and receives specimens from all over the world. Sophisticated tests performed in the laboratory include those for diseases such as oculocutaneous albinism, retinitis pigmentosa and other hereditary retinal dystrophies, retinoblastoma, colobomatous malformations, anterior segment malformations, storage diseases, familial retinal detachments (including Norrie disease), congenital cataracts, dislocated lenses, and congenital glaucoma. The Center's laboratory will soon offer clinical DNA diagnosis of some genetic eye diseases, including affection, carrier status and prenatal diagnosis. More than 55 fellows have been trained in the Johns Hopkins Center for Hereditary Eye Diseases; many have established similar centers in the USA and abroad.

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