Achromatopsia OMIM achromatopsia genetics division, Online Mendelian Inheritance in Man, of NationalInstitutes of Health provides scientific information about the disorder http://rarediseases.about.com/cs/achromatopsia/
Extractions: based on Last Update 01 Nov 01 Rhodonine and Activa are trademarks 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. Achromatopsia (with an s) is a stationary congenital disease that is easily recognized in the clinic. It typically presents four different individual symptoms: However, the severity of these individual symptoms may vary from very severe (complete) cases to less severe (incomplete) cases. The incomplete cases can vary widely.
Achromatopsia Refined genetic mapping of achromatopsia on chromosome 2q11q12. N.C. Arbour 1 , J. Zlotogora 2 , E.M. Stone 3 , and V.C. Sheffield1, 4 . outside of the achromatopsia gene interval using the radiation hybrid panel Genebridge 4 (Research genetics). Two other http://www.ssc.mhie.ac.uk/eyeconds/Achro.htm
Extractions: For whom is this information intended? The information contained in this document is intended for use primarily by parents, other members of the family and older children with visual impairment. The information will also be of use to interested health professionals, carers and teachers. The purpose of each information document The purpose of the information is to explain: This document is written with the minimum use of medical terms and jargon. It is impossible to avoid all medical terms but where we have used them we have attempted to explain them as clearly as we can. Although the information is intended to describe most aspects of the condition each child is different and there will always be exceptions to the rule. As far as we can determine these pages are true and accurate and have been written in good faith. Inevitably there will be some mistakes. We apologise for this. What this information is not for This document is not a substitute for a consultation with a Health Professional and should not to be used as a means of diagnosing a condition.
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
Genetic Conditions / Rare Conditions Information Site Lay advocacy groups, support groups, information on genetic conditions and birth defects for professional Category Health Conditions and Diseases Genetic DisordersGenetic and Rare Conditions Site Medical genetics, University of Kansas Revised March12, 2003 Aarskog syndrome; Achondroplasia; achromatopsia; Acoustic neuroma http://www.kumc.edu/gec/support/
HUM-MOLGEN: ACHROMATOPSIA (TOTAL COLOURBLINDNESS) GENE IDENTIFIED About the Book Understanding and Coping with achromatopsia This 155page, spiral bound book, first published in 1998 and updated in 2002, presents a substantial amount of helpful and interesting information pertaining to achromatopsia. monochromacy. The genetics of blue cone monochromacy. Achromats who see color. Getting diagnosed. achromatopsia in print http://www.hum-molgen.de/bb/Forum7/HTML/000018.html
Extractions: In 1775, the western Pacific island of Pingelap was battered by Typhoon Lengkieki, killing 90% of the population-and many of those who survived the storm died after the ensuing famine. Only a few individuals remained to repopulate the island. One man had a rare mutation which he passed on to his descendants, who by the twentieth century represented a large fraction of the island's population. The mutation led to a condition known as achromatopsia, or total colourblindness, in which affected individuals have a complete inability to distinguish colours and see only in shades of grey. The story of the Pingelapese islanders is recounted in the 1998 book Island of the Colourblind by Oliver Sacks and a BBC documentary of the same title. CONTACTS: Dr. Olof Sundin
HUM-MOLGEN: ACHROMATOPSIA (TOTAL COLOURBLINDNESS) GENE IDENTIFIED 1969 to start the hunt for the gene mutated in the islanders' achromatopsia. an essentialcomponent of the eye's photoreceptor apparatus (Nature genetics, Vol. http://www.hum-molgen.de/NewsGen/06-2000/msg12.html
Extractions: In 1775, the western Pacific island of Pingelap was battered by Typhoon Lengkieki, killing 90% of the population-and many of those who survived the storm died after the ensuing famine. Only a few individuals remained to repopulate the island. One man had a rare mutation which he passed on to his descendants, who by the twentieth century represented a large fraction of the island's population. The mutation led to a condition known as achromatopsia, or total colourblindness, in which affected individuals have a complete inability to distinguish colours and see only in shades of grey. The story of the Pingelapese islanders is recounted in the 1998 book Island of the Colourblind by Oliver Sacks and a BBC documentary of the same title. CONTACTS: Dr. Olof Sundin
Human Molecular Genetics: May 1997 (Volume 6, No 5) Rokhlina, EM Stone and VC Sheffield Homozygosity mapping of achromatopsia to chromosome HumanMolecular genetics is a monthly journal of original peerreviewed http://www.hum-molgen.de/journals/HMG/0034.html
Achromatopsia Links to information, resources, and support for achromatopsia. Online Mendelian Inheritance in Man achromatopsia. genetics division of National Institutes of Health provides http://lupus.about.com/msub2.htm
ABOUT THE BOOK, UNDERSTANDING AND COPING WITH ACHROMATOPSIA Inheritance factors; The genetics of rod monochromacy; The genetics of blue conemonochromacy; Achromats who see color; Getting diagnosed; achromatopsia in print; http://www.achromat.org/uc_book.html
Extractions: This 155-page, spiral bound book, first published in 1998 and updated in 2002, 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 Understanding and Coping with Achromatopsia: What is achromatopsia? What is it like to have achromatopsia? Comparing achromatopsia with other vision disorders Individual differences Vision and coping strategies of a complete achromat Inheritance factors The genetics of rod monochromacy The genetics of blue cone monochromacy Achromats who see color Getting diagnosed Achromatopsia in print About being colorblind Adapted lifestyles and adapted environments Orientation and mobility Accommodations in the workplace and elsewhere Vocational choices for persons with achromatopsia Social and psychological aspects of achromatopsia
ABOUT THE BOOK, COMPLETE COLORBLINDNESS poor vision; The genetics of complete colorblindness; Achromatopisain print; The achromatopsia Network; Suggested references. This book http://www.achromat.org/cc_book.html
Extractions: This 50-page, spiral bound book (8 1/2" X 11") brings together some of the material from the book, Understanding and Coping with Achromatopsia, and some of the material from the book, Living with Achromatopsia. It is intended primarily for persons who wish to learn about this rare vision disorder but who do not need to have as much information as do individuals and families who are actually affected by the condition or professionals serving the visually impaired. The author, Frances Futterman, has complete achromatopsia and serves as facilitator of the Achromatopsia Network. The term "achromatopsia" means "without color vision." Persons affected by this vision disorder experience other kinds of vision problems in addition to their lack of color vision, and information about all of this is included in this book. Following are titles from the Table of Contents page of this book: What is achromatopsia?
Extractions: Products MSDS Store BioBeat Subscribe Contact Breakthroughs ... Awards Mystery of Total Color Blindness on Pacific Atoll Finally Solved By Michael D. O'Neill In culmination of research work that began over three decades ago, Dr. Irene Hussels Maumenee and colleagues at the Johns Hopkins University School of Medicine, have determined the underlying molecular cause of a form of hereditary total color blindness ( achromatopsia ) that afflicts a significant portion of the native population on the Pacific atoll of Pingelap [ Nature Genetics , July 2000)] [ Medline abstract Aided by technology from Applied Biosystems, Dr. Maumenee's group has shown that the cause of this disease in the Pingelapese islanders is a single base change in a gene the scientists identified within the achromatopsia disease gene region on chromosome 8. This newly identified gene ( ) codes for a subunit of an ion channel in the cone photoreceptors in the eye. Specifically, the mutation is a missense mutation [a cytosine (C)-to-thymidine (T) substitution] that causes a serine-to-phenylalanine amino-acid change at a highly conserved site in the sixth membrane-spanning domain of the beta subunit of the cone photoreceptor cyclic guanosine monophosphate (cGMP)-gated cation channel. This channel constitutes a central component of the light-signaling pathway in cone photoreceptors (see
How Do People Inherit Colorblindness? How Often? achromatopsia is a form of colorblindness characterized by the total loss of allcolor vision. Related pages Appearance Types genetics Testing. Look for http://webexhibits.org/causesofcolor/2C.html
Extractions: (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
What Causes Colorblindness? Related pages Appearance Types genetics Testing. For example, achromatopsia,the loss of all color vision, can be acquired as a result of brain damage http://webexhibits.org/causesofcolor/2B.html
Extractions: Related pages: Appearance Types Genetics Testing An unusual type of colorblindness occurs in the mind, not the eye. This is a drawing of a patient who was unable to see the world in color after a cerebral accident. The patient was an artist, and the drawings were made from memory. The drawings represent (clockwise): a banana, a tomato, a cantaloupe and leaves. Interestingly, this is analogous to the luminance-based paintings of some Picasso paintings. In most colorblindness, the person has a different mixture of cones from normal. The cone cells on the retina are the crucial physical components in seeing color. People with normal color perception have three different cones, each cone is tuned to perceive mostly either Long wavelengths (reddish), Middle wavelengths (greenish), or Short wavelengths (bluish), referred to as L-, M-, and S- cones. Our minds determine what "color" we are seeing by determining the ratio between signals from different types of cones. In people with colorblindness, either a type of cone is missing, or the cone has a different peak absorption from normal. Congenital color vision deficiencies overwhelmingly affect the L-cones or the M-cones. Full color blindness and insensitivity to blue light are relatively rare. L-cone and M-cone deficiencies are collectively known as red-green colorblindness, because they reduce the ability to distinguish those two colors. Yellow-blue colorblindness stems from the much rarer deficiencies involving the S-cones.
BU Bridge Research Briefs - 13 August 1999 Researchers say that the discovery of a second gene for achromatopsia provides newinsights into the genetics of vision and color vision and will facilitate http://www.bu.edu/bridge/archive/1999/08-13/research.html
Extractions: Gene for rare vision disorder identified. BU School of Medicine researchers have identified the second chromosomal position for the recessive gene that causes achromatopsia. People suffering from this rare genetic disorder cannot see any color at all and are regarded as legally blind. Photophobia (abnormal sensitivity to light), extreme nearsightedness, and uncontrollable movement of the eyes are other features of the disorder. Dr. Aubrey Milunsky , BUSM professor of human genetics and pediatrics and director of the Human Genetics Center, studied a unique family in which 5 of 12 children were affected with achromatopsia, which enabled the researchers to detect the locus of this rare gene, which maps to chromosome 8q. The research team also suspected that three of the children, who suffered from mental retardation in addition to achromatopsia, might also somehow be affected by the action of this gene. However, Milunsky explains, "We found no linkage to the 8q locus thus far, and a thorough evaluation, including an X-chromosome study using DNA probes, did not reveal a locus on the X-chromosome or a related or contiguous gene." Researchers say that the discovery of a second gene for achromatopsia provides new insights into the genetics of vision and color vision and will facilitate development of therapeutic approaches for this rare and debilitating disorder. The report appears in the July issue of the journal Clinical Genetics.
Nature Publishing Group month in Nature genetics, Sundin and colleagues 3 report the identification of thecausative gene for a fascinating disorder known as achromatopsia, a visual http://www.nature.com/cgi-taf/DynaPage.taf?file=/nm/journal/v6/n7/full/nm0700_74
Genetic Basis Of Total Colourblindness Among The Pingelapese Islanders Two independent frameshift deletions establish that achromatopsia is the null 1.Laboratory of Developmental genetics, Johns Hopkins University School of http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v25/n3/abs/ng0700_28
Extractions: 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 Diseases? Genetics Basics Information Resources What Are Genetic Diseases? Genetics Basics The Basics Birth Defects - Merck Manual, Home Edition Changes to Chromosomes - New South Wales Genetics Program, Australia Changes to Chromosomes: Translocations - New South Wales Genetics Program, Australia ... Genetics and Neuromuscular Diseases - Muscular Dystrophy Association (also in Spanish Genetics Overview - Merck Manual Home Edition Genes and Disease - NCBI ... What are Genetic Disorders? - U of Utah
