1. Achromatopsia.info - Genetics The Genetics of Achromatopsia Genetics is about how information is stored and transmitted between generations. http://www.achromatopsia.info/genetics/

Home Achromat Vision Debilitating Glare Colorblindness ... Links Navigation Home Achromat Vision Debilitating Glare Colorblindness ... Links The Low Vision Centers Our Practice Our Doctors Our Awards Positions Held ... Contact Us Social Facebook Twitter The Genetics of Achromatopsia: Genetics is about how information is stored and transmitted between generations. - John M Smith All humans are believed to carry variant genes. Infact, each human, on average, carries about six defective genes. This is out of 20,000 to 25,000 genes in the human chromosomes. Genes carry the instruction codes to create proteins or RNA to build the human body. Most of us are unaware of these impaired genes, as they do not create major problems in our life. In achromatopsia several different gene variants can each separately create the condition we call achromatopsia. Not all genetic causes of achromatopsia may have been identified, but the ones discussed in this section account for about 79% of all cases. There are two main forms of congenital achromatopsia, rod monochromatism and blue cone monochromatism. Each has a different form of inheritance. Rod monochromatism is an autosomal recessive condition and is the most common form of achromatopsia. Rod monochromats usually have more vision loss, more color vision loss, and greater light sensitivity. They can be complete with no color vision or incomplete with traces of color vision.

2. Conditions By People Affected (Prevalence/Incidence) - WrongDiagnosis.com Medical information on symptoms, diagnosis, and misdiagnosis of more than 2,000 conditions and diseases. Research symptoms in our Symptoms Center or research diseases and http://www.wrongdiagnosis.com/lists/preval.htm

3. Achromatopsia | Ask.com Encyclopedia Achromatopsia (ACHM), is a medical syndrome that exhibits symptoms relating to at least five separate individual diseases. Although the term may refer to acquired disorders such as http://www.ask.com/wiki/Achromatopsia?qsrc=3044

4. Achromatopsia - Wikidoc Genetics, Pharmacogenomics, and Proteinomics of Achromatopsia Genetics of Achromatopsia • Pharmacogenomics of Achromatopsia • Proteomics of Achromatopsia http://www.wikidoc.org/index.php/Achromatopsia

5. Achromatopsia Achromatopsia Network P.O. Box 214 Berkeley, CA 947010214 USA E-mail Editor@achromat.org (Frances Futterman, network facilitator) Vision disorder, including both rod monochromacy 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

6. The Genetic Basis For Achromatopsia: Different Reporting Styles In The Media This web page was produced as an assignment for an undergraduate course at Davidson College. The Genetic Basis for Achromatopsia Different Reporting Styles in the Media http://www.bio.davidson.edu/courses/genomics/2006/martens/colorblind.html

Home Achromatopsia GSH1 and SET4 GSH1 and SET4 Expression ... Davidson College This web page was produced as an assignment for an undergraduate course at Davidson College. The Genetic Basis for Achromatopsia Different Reporting Styles in the Media About Achromatopsia Color blindness is generally defined as the inability to differentiate between hues of color. The most common forms of color blindness are red-green (sometimes referred to as Daltonian) and blue-purple. There is also a form of color blindness in which all ability to distinguish hues is lost, called achromatopsia. People with this condition are generally considered to be legally blind, but a significant portion of people with red-green or blue-purple color blindness are unaware of their condition. Daltonian color-blindness is an X-linked trait, with the vast majority of those affected being male. Achromatopsia can be caused either by genetic defect or through cerebral damage, and affects men and women with equal frequencies. An island in Micronesia has a very high frequency of achromatopsia. It is thought that due to a severe storm a few hundred years ago, much of the genetic diversity on the island was erased. A few individuals remaining carried genetic mutations that cause achromatopsia. This island has become the center of attention for much research into achromatopsia. Scientific journals and the popular press often report on scientific discoveries in markedly different ways. What follows is a comparison of these differing treatments. This web page focuses on achromatopsia, or "true" color blindness, and compares and contrasts the ways in which the various scientific journals and venues of popular press discuss the disease.

7. Achromatopsia Visually Impairing Conditions. by Dr Andrew Blaikie for VI Scotland Medical Information on Achromatopsia. For whom is this information intended? http://www.ssc.education.ed.ac.uk/resources/vi&multi/eyeconds/Achro.html

8. Achromatopsia OMIM Achromatopsia Genetics division, Online Mendelian Inheritance in Man, of National Institutes of Health provides scientific information about the disorder. http://rarediseases.about.com/cs/achromatopsia/?iam=savvy&terms= achromatops

9. Achromatopsia Larger Ca 2+ permeability of mutant cone CNG channels causes incomplete achromatopsia. Genetic analyzes identified mutations that have been associated with recessively inherited http://www.fz-juelich.de/isb/isb-1/Achromatopsia/

Institute Home Imprint Search INSTITUTE OF STRUCTURAL BIOLOGY AND BIOPHYSICS (ISB) CELLULAR BIOPHYSICS (ISB-1) ISB Home ISB-1 Home Cellular Signalling Protein Biophysics ... Achromatopsia Larger Ca permeability of mutant cone CNG channels causes incomplete achromatopsia Genetic analyzes identified mutations that have been associated with recessively inherited colorblindness, also known as achromatopsia . The vast majority of these mutations have been identified in the genes encoding CNGA3 and CNGB3, the two subunits of the cyclic nucleotide-gated (CNG) channel of cone photoreceptors (Figure 1). Figure 1: Transmembrane topology of a CNG channel subunit and the composition of the cone CNG channel. The cone CNG channel subunits CNGA3 (A) and CNGB3 (B) are assumed to adopt similar topologies with 6 transmembranal segments (S1-S6) and a pore forming region between S5 and S6. The amino (N) terminus and the carboxy (C) terminus, containing the cGMP-binding site, are located intracellularly. Recent evidence suggests that the cone CNG channel comprises three CNGA3 subunits and one CNGB3 subunit. CNG channels are located at high density in the plasma membrane of photoreceptors. These channels serve an important function in phototransduction (Figure 2): CNG channels are directly and cooperatively activated by cGMP. In the dark, the cGMP concentration in photoreceptors is high and open CNG channels conduct a depolarizing inward current carried by Ca

10. Achromatopsia Convention Convention Topic latest discoveries in Achromatopsia, genetics, including discussion of status of Carver Lab testing program. Current Projects http://www.achromatopsiaconvention.org/

Achromatopsia AUGUST 13-15, 2009 Home This is the 2nd annual convention inviting those with Achromatopsia and all family and friends to meet in Chicago, IL. Considering the rarity of Achromatopsia (1 in 33,000 in the U.S.), this convention will give many of us a chance to meet others affected by this intriguing condition for the first time. Although we have been able to connect with each other over the Internet, we are now given the chance to meet each others in person. Meeting can help us to know we are not alone and allow us to create stronger bonds. Location Convention Convention Site The 2009 Achromatopsia Convention will be held at The Chicago Lighthouse for People who are Blind or Visually Impaired. The Chicago Lighthouse was founded in 1906 by a group of women volunteers, both blind and sighted, working out of the basement of a doctors home offering clothing and food to Chicagoans who were blind, many of them homeless. Since then, the Chicago Lighthouse..... READ MORE Parking: The Chicago Lighthouse has a limited number of parking spaces available for reserve. Please contact Rob Cancilla at robcancilla_gmail.com by Friday, August, 7th if you require a parking spot. Spots will be assigned on a first come basis. Food: Complimentary coffee and snacks will be available in the mornings in our meeting room at the Chicago Lighthouse. Lunch will also be provided complimentary of the Lighthouse on both days and will consist of sandwiches, salads, drinks and snacks. If you have any dietary restrictions or would prefer an alternative to the lunch menu the Lighthouse has a full service cafeteria. The cafeteria is open for breakfast and lunch. Food purchased in the cafeteria is not complimentary but the prices are very reasonable and low priced. Menus will be available in the meeting room.

11. Achromatopsia Online Mendelian Inheritance in Man Achromatopsia Genetics division of National Institutes of Health provides scientific information about the disorder. http://rarediseases.about.com/msub2.htm

zWASL=1;zGRH=1 zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zDO=0 Home Health Rare Diseases Rare Diseases Search Rare Diseases Diseases A-Z Pediatric Diseases In the News ... Share w(x2+zWl+'?p=1" zT="18/1[N" rel="nofollow">Print') Filed In: Rare Diseases Achromatopsia Rare hereditary vision disorder which results in poor visual acuity and color blindness The Achromatopsia Network Information, support, networking, and book reviews. Achromatopsia - Personal Information Commentary on an essay provides information about the disorder. Colour Vision Defects Information about color blindness and visual defects. Online Mendelian Inheritance in Man - Achromatopsia Genetics division of National Institutes of Health provides scientific information about the disorder. Vision in a Complete Achromat: A Personal Account Autobiographical information from someone with the disorder. Related Articles Achromatopsia - Definition of Achromatopsia Forms, Folds, and Sizes by Poppy Evans - Book Review for Desktop Publishing... Borderline Personality Disorder for Dummies - An Expert Review of Borderlin... Linux Network Administrators Guide - Purpose and Audience for This Book ... to guide this site zSB(3,3) zSbL=3;zSB(2);zSbL=0

12. Causes Of Achromatopsia - WrongDiagnosis.com Contagiousness for Achromatopsia; Genetics of Achromatopsia; Hidden causes of Achromatopsia; Causes of Achromatopsia Online Medical Books. 16 MEDICAL BOOKS ONLINE! http://www.wrongdiagnosis.com/a/achromatopsia/causes.htm

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