1. Achromatopsia OMIM achromatopsia genetics division, Online Mendelian Inheritance in Man, ofNational Institutes of Health provides scientific information about the http://rarediseases.about.com/cs/achromatopsia/

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases Essentials ... 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/496/7.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Rare / Orphan Diseases newsletter! See Online Courses Search Rare / Orphan Diseases Achromatopsia Guide picks Achromatopsia is a rare hereditary vision disorder which results in poor visual acuity (can't see well) and colorblindness. The Achromatopsia Network Offers information, support, networking, and book reviews. Colour Vision Defects Information about color blindness and visual defects. OMIM - Achromatopsia Genetics division, Online Mendelian Inheritance in Man, of National Institutes of Health provides scientific information about the disorder. Topic Index Email to a Friend Our Story Be a Guide ... New York Times Company Around About Win $5,000 Shopping Spree from About.com Free Online Games Photo Gallery: Paris Photo Gallery: Las Vegas Strip ... Nudity and the Spa What's Hot Bubonic Plague The Elephant Man Amyotrophic Lateral Sclerosis The Boy in the Bubble ... Mitochondrial Disease Headlines Understanding mechanisms of inherited ALS About 10% of individuals with amyotrophic lateral sclerosis (Lou Gehrig's...

2. Achromatopsia This is why it is important that families with a child affected by Achromatopsia receive counselling from a specialist in genetics. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

3. Rod Monochromatism This is why it is important that families with a child affected by Achromatopsia receive counselling from a specialist in genetics. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

4. Achromatopsia Online Mendelian Inheritance in Man achromatopsia genetics division of National Institutes of Health provides scientific information http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

5. Achromatopsia OMIM achromatopsia genetics division, Online Mendelian Inheritance in Man, of National Institutes of Health provides scientific http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

6. HUM-MOLGEN ACHROMATOPSIA (TOTAL COLOURBLINDNESS) GENE IDENTIFIED ACHROMATOPSIA (TOTAL COLOURBLINDNESS) GENE IDENTIFIED (C) Nature Genetics press release. Nature Genetics, Vol. 25, No. 3. Nature Medicine http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. Canine CNGB3 Mutations Establish Cone Degeneration As Orthologous To Human Molecular Genetics, 2002, Vol. 11, No. mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3 http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

8. Mutations In The CNGB3 Gene Encoding The {beta}-subunit Of The Human Molecular Genetics, 2000, Vol. 9, No. of the cone photoreceptor cGMPgated channel are responsible for achromatopsia (ACHM3) linked to http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. WHAT IS ACHROMATOPSIA? What Is Achromatopsia? Congenital achromatopsia is a rare hereditary vision disorder which affects 1 person in 33 000 in the U. S. The http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

10. Homozygosity Mapping Of Achromatopsia To Chromosome 2 Using DNA Your browser does not support frames. Click here to view the unframed reprint. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. Homozygosity Mapping Of Achromatopsia To Chromosome 2 Using DNA Human Molecular Genetics, Vol 6, 689694, Copyright 1997 by Oxford University Press ARTICLES Homozygosity mapping of achromatopsia to http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

12. Achromatopsia Image that s a link to genetics Education Center Support Page. achromatopsia achromatopsia Network PO Box 214 Berkeley, CA 947010214 USA E-mail 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 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) of the Health On the Net Foundation

13. Achromatopsia And The Underlying Bioelectrochemistry Table of achromatopsia. The authors of the above geneticsbased papers haveofferred their explanation of the cause of achromatopsia based on their reading 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.

14. Achromatopsia,achromatopsia,achromatopsia,achromatopsia,achromat Nature genetics (25 289293) that Pingelapese islanders with achromatopsia to ensure that genetic mutations such as congenital achromatopsia are http://www.icomm.ca/geneinfo/achromat.htm

15. Genetic Basis Of Total Colourblindness Among The Pingelapese Islanders - Nature 1 Laboratory of Developmental genetics, Johns Hopkins University School of Medicine, Complete achromatopsia is a rare, autosomal recessive disorder http://www.nature.com/ng/journal/v25/n3/abs/ng0700_289.html

@import "/ng/style.css"; nature.com homepage Login My account ... Browse by subject Search This journal All of nature.com Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Letter Nature Genetics doi:10.1038/77162 Genetic basis of total colourblindness among the Pingelapese islanders Olof H. Sundin , Jun-Ming Yang , Yingying Li , Danping Zhu , Jane N. Hurd , Thomas N. Mitchell , Eduardo D. Silva Laboratory of Developmental Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. Johns Hopkins Center for Hereditary Eye Diseases, Department of Ophthalmology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland , USA. 1120 C Street SE, Washington DC, USA. Correspondence should be addressed to Olof H. Sundin osundin1@jhmi.edu Complete achromatopsia is a rare, autosomal recessive disorder characterized by photophobia, low visual acuity, nystagmus and a total inability to distinguish colours. In this disease, cone photoreceptors, the retinal sensory neurons mediating colour vision, seem viable but fail to generate an electrical response to light (ref. 4).

16. Mapping Of A Novel Locus For Achromatopsia (ACHM4) To 1p And Identification Of A 1 Section of Medical and Molecular genetics, Department of Paediatrics and Child Objective To determine the molecular basis for achromatopsia using http://jmg.bmjjournals.com/cgi/content/abstract/39/9/656

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Full Text Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Add article to my folders ... Cited by other online articles PubMed PubMed Citation Articles by Aligianis, I A Articles by Maher, E R Related Collections 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

17. Achromatopsia Caused By Novel Mutations In Both CNGA3 And CNGB3 -- Johnson Et Al 2 Section of Medical and Molecular genetics, Department of Paediatrics and Child Complete achromatopsia or rod monochromatism is a stationary cone http://jmg.bmjjournals.com/cgi/content/extract/41/2/e20

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Full Text Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Add article to my folders ... Cited by other online articles PubMed PubMed Citation Articles by Johnson, S Articles by Hunt, D M Related Collections Online mutation reports Genetics Journal of Medical Genetics ONLINE MUTATION REPORT Achromatopsia caused by novel mutations in both and S Johnson M Michaelides I A Aligianis J R Ainsworth J D Mollon E R Maher A T Moore and D M Hunt Institute of Ophthalmology, University College London, 11-43 Bath Street, London EC1V 9EV, UK Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK Department of Experimental Psychology, University of Cambridge, Downing Street, Cambridge CB2 3EB, UK

18. Entrez PubMed Laboratory of Developmental genetics, Johns Hopkins University School of Medicine, Complete achromatopsia is a rare, autosomal recessive disorder http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

19. Log In Problems The most common of these rare disorders is complete achromatopsia—also ter of partial achromatopsia called blue cone monochromatism is due to genetic http://www.medscape.com/viewarticle/501761_6

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20. HUM-MOLGEN: ACHROMATOPSIA (TOTAL COLOURBLINDNESS) GENE IDENTIFIED news section of the international communication forum in human genetics hummolgen . achromatopsia (TOTAL COLOURBLINDNESS) GENE IDENTIFIED http://hum-molgen.org/NewsGen/06-2000/msg12.html

home genetic news bioinformatics biotechnology ... register for news alert ACHROMATOPSIA (TOTAL COLOURBLINDNESS) GENE IDENTIFIED June, 30 2000 0:25 The island of the colourblind 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 Johns Hopkins University School of Medicine Department of Ophthalmology Baltimore, Maryland

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