61. Transmembrane S1 Mutations In CNGA3 From Achromatopsia 2 Patients Cause Loss Of achromatopsia 2, an inherited retinal disorder resulting in attenuation or lossof cone Molecular analysis of achromatopsia 2 mutations may be useful in http://www.iovs.org/cgi/content/abstract/46/7/2282

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Investigative Ophthalmology and Visual Science by The Association for Research in Vision and Ophthalmology, Inc. DOI: 10.1167/iovs.05-0179 This Article Full Text Full Text (PDF) Submit a response ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Download to citation manager PubMed PubMed Citation Articles by Patel, K. A. Articles by Tanaka, J. C. Transmembrane S1 Mutations in from Achromatopsia 2 Patients Cause Loss of Function and Impaired Cellular Trafficking of the Cone CNG Channel Kirti A. Patel, Kristen M. Bartoli, Richard A. Fandino, Anita N. Ngatchou, Gustaw Woch, Jannette Carey, and Jacqueline C. Tanaka From the Center for Biotechnology, Temple University, Philadelphia, Pennsylvania; and the Chemistry Department, Princeton University, Princeton, New Jersey. PURPOSE Achromatopsia 2, an inherited retinal disorder resulting

62. Variant Phenotypes Of Incomplete Achromatopsia In Two Cousins With GNAT2 Gene Mu Variant Phenotypes of Incomplete achromatopsia in Two Cousins with GNAT2 GeneMutations. Thomas Rosenberg,1 Britta Baumann,2 Susanne Kohl,2 Eberhart Zrenner http://www.iovs.org/cgi/content/abstract/45/12/4256

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Investigative Ophthalmology and Visual Science by The Association for Research in Vision and Ophthalmology, Inc. DOI: 10.1167/iovs.04-0317 This Article Full Text Full Text (PDF) Submit a response ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Download to citation manager PubMed PubMed Citation Articles by Rosenberg, T. Articles by Wissinger, B. Variant Phenotypes of Incomplete Achromatopsia in Two Cousins with Gene Mutations Thomas Rosenberg, Britta Baumann, Susanne Kohl, Eberhart Zrenner, Arne Lund Jorgensen, and Bernd Wissinger From the Gordon Norrie Centre for Genetic Eye Diseases, National Eye Clinic for the Visually Impaired, Hellerup, Denmark; the Institute of Human Genetics, University of Aarhus, Denmark. PURPOSE The present study was designed to elucidate the molecular genetic basis of a congenital stationary cone dysfunction characterized by congenital nystagmus, moderate visual impairment, and markedly

63. Achromatopsia - ICQ Interest Groups ICQ Interest Groups achromatopsia. Most Active Groups Newly Added Groups Popular achromatopsia. Last Post Sep 10 2002, 1 Post Go to last post http://www.icq.com/groups/group_details.php?gid=1492239

64. The Macula Very few people (about 3 in a million) have total “color blindness” or “achromatopsia”;they see things only in shades of white, gray and black. http://www.tedmontgomery.com/the_eye/macula.html

The Macula Anatomy, Physiology and Pathology of the Human Eye Ted M. Montgomery, Optometric Physician Click on a selection here fovea centralis color vision color deficiency color vision testing macular degeneration Amsler grid cystoid macular edema central serous chorioretinopathy , or scroll down the page. Full Page View The macula lutea is the small, yellowish central portion of the retina , and it is the area providing the clearest, most distinct vision. When one looks directly at something, the light from that object forms an image on one’s macula. A healthy macula ordinarily is capable of achieving at least 20/20 (“normal”) vision or visual acuity, even if this is with a correction in glasses or contact lenses. Not uncommonly, an eye’s best visual acuity is 20/15; in this case, that eye can perceive the same detail at 20 feet that a 20/20 eye must move up to 15 feet to see as distinctly. Some people are even capable of 20/10 vision, which is twice as good as 20/20. Vision this acute may be due to there being more cones per square millimeter of the macula than in the average eye, enabling that eye to distinguish much greater detail. fovea centralis The very center of the macula is called the fovea centralis , an area where all of the photoreceptors are cones ; there are no rods in the fovea. The fovea is the point of sharpest, most acute visual acuity. (The center of the fovea is the “foveola.”) Because the fovea has no rods, small dim objects in the dark cannot be seen if one looks directly at them. For this reason, to detect faint stars in the sky, one must look just to the side of them so that their light falls on a retinal area, containing numerous rods, outside of the macular zone.

65. Achromatopsia, Eastern Carolina achromatopsia University Health Systems of Eastern Carolina serves tarboro,ahoskie, edento, winsor, maxhead, dear county, outebanks counties in eastern http://www.uhseast.com/117493.cfm

Health News Health Library Health Topics Healthy Living ... Nutrition Self-Help Resources Information about national and local self-help organizations and support groups. Achromatopsia This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site. Achromatopsia Network National network. Information and support for individuals and families concerned with the rare inherited vision disorder Achromatopsia (aka achromatopia), including both rod monochromacy and blue cone monochromacy. WRITE: Achromatopsia Network P.O. Box 214 Berkeley, CA 94701-0214 E-MAIL: editor@achromat.org WEBSITE: http://www.achromat.org VERIFIED: 3/17/2004 The above information was "verified" as correct on the date at the end of each entry. Since American Self-Help Group Clearinghouse's database is extensive but staffing is limited and information for these organizations can change, it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information on self-help groups, please visit the American Self-Help Group Clearinghouse web site at http://www.mentalhelp.net/selfhelp

66. HUM-MOLGEN: ACHROMATOPSIA (TOTAL COLOURBLINDNESS) GENE IDENTIFIED news section of the international communication forum in human genetics hummolgen. 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

67. Disease Of The Eye: Achromatopsia achromatopsia is a eye disorder in people who do not have normal. http://nc.essortment.com/achromatopsiadi_rmoh.htm

Disease of the eye: achromatopsia Achromatopsia is a eye disorder in people who do not have normal "cone vision," so in turn, they must use their "rod vision." Therefore, this leaves the person almost or completely colorblind. Achromatopsia is a hereditary vision disorder. It only affects about 1 person out of 33,000 in the Unites States. When a person has achromatopsia they do not see in a cone field but with rod vision. Also a person with achromatopsia will be completely colorblind or almost colorblind. This disorder causes the person to have poor visual acuity. There have been several misdiagnosis when it comes to achromatopsia. Nystagmus is a symptom that occurs with achromatopsia. Yet, now there is a medical eye condition called congenital nystagmus, which is the involuntary movement of the eyes. Another misdiagnosis is when a person has rod monochromacy and has been diagnosed with cone dystrophy. One more misdiagnosis is congenital achromatopsia, which has been confused with cone dystrophy or rod dystrophy; doctors may refer to this disorder as “stationary cone dystrophy”. Yet the actual condition is not progressive and it does not lead to blindness. There have been terms that have been used in diagnosing patients with achromatopsia. The terms show that every specialist sees this condition very differently. There are a couple different kinds of colorblindness that can make the disorders a little more confusing. There is a red-green blindness caused by the proximity of the two pigment genes, this makes an unequal crossover in the X-chromosomes, leading to this disorder. Red-green colorblindness is when a person has trouble telling the difference between red, brown and green. Another type of colorblindness is known as blue colorblindness, which is also known as incompletely achromatopsia, the clue-cone monochromatism. This is a disorder were only the blue cones and the rods can functionally properly. The research shows that the actual signals from another type is complete achromatopsia, which is color blindness. A simple definition of this can be when there is no functioning of the cone cells. The cones and rods are traveling in different pathways to where the wavelength confusion takes place.

68. Achromatopsia Information Diseases Database achromatopsia,Rod monochromatism, Disease Database Information. http://www.diseasesdatabase.com/ddb83.htm

Diseases Database Index Sponsors Contact ... Previous Page Achromatopsia information Search 2 synonyms or equivalents were found. Achromatopsia aka/or Rod monochromatism may cause or feature (Follow link for list.) belong(s) to the category of (Follow link for list.) Achromatopsia: Definition(s) via UMLS Code translations and terms via UMLS Achromatopsia: specific web sites Send Achromatopsia to medical search engines (JavaScript enabled browsers only.) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation Valid XHTML 1.0 Served 2005-09-08 19:04:13 View metadata Last major update 2005-09-03. The medical information here is presented for education, background reading and general interest. The Diseases Database is not a diagnostic or clinical decision-making tool. Please consult your own licensed physician regarding diagnosis and treatment of any medical condition! Content is not asserted complete or error free, please see also our

69. Healthopedia.com - Color Blindness (Dyschromatopsia, Achromatopsia, Color Vision Alternate Names Dyschromatopsia, achromatopsia, Color Vision Deficiency achromatopsia, which is rare, refers to the inability to see colors at all. http://www.healthopedia.com/color-blindness/

Set Homepage Email Page Favorites Home Health Centers Medical Encyclopedia Medical Symptoms ... Special Topics Related Resources Health Centers Disabilities Eyes and Vision Genetic Counseling You are here : Healthopedia.com Medical Encyclopedia Diseases and Conditions Color Blindness Category : Health Centers Eyes and Vision Color Blindness Alternate Names : Dyschromatopsia, Achromatopsia, Color Vision Deficiency Attribution Color blindness ranges from the inability to distinguish similar shades of a color, to the complete inability to see color. Dyschromatopsia refers to the ability to see some colors, but not others. Achromatopsia, which is rare, refers to the inability to see colors at all. What is going on in the body? Most of the time, color blindness is a genetic defect that is present when the individual is born. Less commonly, color blindness occurs as part of aging or is caused by a medication or disease. What are the causes and risks of the condition? Color blindness is usually caused by an inherited trait. Dyschromatopsia, or the inability to see some colors, occurs in about 8% of men and less than 1% of women. Color blindness may also be caused by some medications or by normal aging of the lens of the eye. Disorders of the retina of the eye, or of the optic nerve from the eye to the brain, may also interfere with color perception. Next section Author: William Stevens, MD

70. Healthopedia.com - Color Blindness: Diagnosis & Tests (Dyschromatopsia, Achromat achromatopsia may not be uncovered until a child is 3 to 5 years old. The diagnosis of achromatopsia is sometimes determined by performing an electric http://www.healthopedia.com/color-blindness/diagnosis.html

Set Homepage Email Page Favorites Home Health Centers Medical Encyclopedia Medical Symptoms ... Special Topics Related Resources Health Centers Disabilities Eyes and Vision Genetic Counseling You are here : Healthopedia.com Medical Encyclopedia Diseases and Conditions Color Blindness Category : Health Centers Eyes and Vision Color Blindness Alternate Names : Dyschromatopsia, Achromatopsia, Color Vision Deficiency Color Blindness Attribution How is the condition diagnosed? Color blindness is usually self-diagnosed. Achromatopsia may not be uncovered until a child is 3 to 5 years old. To confirm the self-diagnosis, the healthcare provider usually performs a color test. Common tests include the HRR pseudoisochromatic plates or the Ishihara plates. The diagnosis of achromatopsia is sometimes determined by performing an electric eye test. This test is called an electroretinograph. Previous section Next section Author: William Stevens, MD Reviewer: Eileen McLaughlin, RN, BSN Date Reviewed: Par Web Solutions About Us Help/FAQ Editorial Policy ... Link to Us

71. Central Achromatopsia Central achromatopsia, associative visual agnosia, and prosopagnosia due tofusiform gyrus infarction A case report. A. OGATA, S. TOHGO, M. KAWATSU, http://www.kufm.kagoshima-u.ac.jp/~rehabil/koza/jobs/achromatopsia.html

Central achromatopsia, associative visual agnosia, and prosopagnosia due to fusiform gyrus infarction: A case report A. OGATA, S. TOHGO, M. KAWATSU, K. KAWAHIRA, N. TANAKA Department of Rehabilitation and Physical Medicine, Faculty of Medicine, Kagoshima University, Japan. Abstract: These symptoms, combined with the CT and MRI findings, suggest that the (right) fusiform gyrus, as well as area V4 as noted in monkey studies, is important in the transaction or transmission of visual information about objects, faces, and colors. Additionally, the preservation of visuospatial cognition in the present case suggests that the projection to the parietal lobe from the occipital lobe for visuospatial cognition diverged before the fusiform gyrus. The recovery of color cognition is understandable in the present case given the large number of cells in this region which are sensitive to red color. Author's information (in Japanese) is here. For detailed information, please see _ŒoS—Šw

72. Tygo Health And Fitness: Conditions And Diseases: Eye Disorders: Achromatopsia Search Tygo achromatopsia. Tygo Directory Tygo » health and fitness » Conditionsand Diseases » Eye Disorders » achromatopsia http://www.tygo.com/Dir/health_and_fitness/Conditions_and_Diseases/Eye_Disorders

Internet Directory Apply to Become an Editor Advanced Search Submit Your Site Search Tygo: Achromatopsia Tygo Directory: Tygo health and fitness Conditions and Diseases Eye Disorders ... Achromatopsia Tygo Presidential Placement This Could Be Your Site Presidential sponsorship is Tygo’s premier advertisement exposure for the Tygo Directories. Make your listing stand out by branding your name, logo and website right here!! Visit our link to learn more... www.tygo.com Tygo Premiere Placement This Could Be Your Site! Don't be stuck just somewhere in the search, you can be at the TOP! Become a Tygo Proud Sponsor and increase your site traffic by reserving this featured spot right now! Tygo View Tygo Web Page Matches (displaying results 1 - 3 of approximately 3) Severity of Colorblindness Varies Colorblindness is the inability to distinguish hues that are seen as different by people with normal color vision. There are several types of colorblindness and the severity of the condition varies from individual to individual. http://healthlink.mcw.edu/article/999211295.html

73. Shore Family Eyecare Treats Low Vision, Glacoma,strabismus And More. achromatopsia is the abnormality or absence of retinal cones. achromatopsia isa rare hereditary vision disorder which affects 1 person in 33000 in the http://www.lowvision-nj.com/diseaseMain.html

Visual Conditions Shore Family Eyecare Treats Achromatopsia Achromatopsia is the abnormality or absence of retinal cones. There is a complete and incomplete form. Achromatopsia is a rare hereditary vision disorder which affects 1 person in 33,000 in the U.S. Someone with achromatopsia has little or no cone cell function in the retinas of their eyes. Cone cells permit color vision, perception of fine detail, and the ability to adapt to all higher levels of illumination. Cones provide "day vision." Signs and symptoms: Vision is worse in bright light. Eye function is markedly better in reduced illumination. Characteristics: visual acuity about 20/200 in complete form. Basically normal retina, or definite macular abnormality. Nystagmus is present. Total lack of color discrimination is pathognomonic. The cone ERG is absent as is the first portion of the scotopic red response in both the complete and incomplete forms. In children wiht poor acuity, nystagmus,, and a normal fundus, who are too young to treat, the ERG assumes a major role in differential diagnosis. In the incomplete forms of congenital cone blindness, the acuity range is better (20/40 to 20/100); there may be misleading and may be diagnosed as macular degeneration or ocular albinism. In these cases, the ERG is essential for confirming the diagnosis. Field: Normal Prognosis: nonprogressive. Vision remains relatively good in subdued light. Nystagmus and photophobia improves with age.

74. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Eye_Disorders/Colo The achromatopsia Network A network for individuals and families affected by Low Vision Sunglasses - achromatopsia sunglasses specially made from NoIR http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Eye_Disorde

@import "/styles/navbar.css"; @import "/styles/tabStyles.css"; Set home page Bookmark site Add search Latest News ... Email to friend Text Size A A A Front Page ... Color Blindness : Achromatopsia Subtopics Search Google: Achromatopsia News Books Links [ More news about Achromatopsia by: Icon Health Publications See Larger Image Amazon.com's Price: Prices subject to change. Used Price: $32.71 Third Party New Price: $28.95 Availability: Usually ships in 24 hours Binding: Paperback EAN: ISBN: Number Of Items: Number Of Pages: Publication Date: August 20, 2004 Publisher: Icon Health Publications Sales Rank: Editorial Review: Book Description: In March 2001, the National Institutes of Health issued the following warning: 'The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading.' Furthermore, because of the rapid increase in Internet-based information, many hours can be wasted searching, selecting, and printing.This book was created for medical professionals, students, and members of the general public who want to conduct medical research using the most advanced tools available and spending the least amount of time doing so. Download Description: This is a 3-in-1 reference book. It gives a complete medical dictionary covering hundreds of terms and expressions relating to achromatopsia. It also gives extensive lists of bibliographic citations. Finally, it provides information to users on how to update their knowledge using various Internet resources. The book is designed for physicians, medical students preparing for Board examinations, medical researchers, and patients who want to become familiar with research dedicated to achromatopsia. If your time is valuable, this book is for you. First, you will not waste time searching the Internet while missing a lot of relevant information. Second, the book also saves you time indexing and defining entries. Finally, you will not waste time and money printing hundreds of web pages.

75. Health Library - colorblindSome people with achromatopsia can only see shades of gray. achromatopsia maynot be uncovered until a child is 3 to 5 years old. http://12.42.224.150/library/healthguide/en-us/SelfHelp/topic.asp?hwid=shc29ach

76. Network Of Care achromatopsia Network. Back to Top. National network. Information and supportfor individuals achromatopsia Network PO Box 214 Berkeley, CA 947010214 http://sacramento.networkofcare.org/aging/library/hwdetail.cfm?hwid=shc29ach&cat

77. Achromatopsia - Talk Medical Humanfriendly medical definition of achromatopsia. http://www.talkmedical.com/medical-dictionary/158/Achromatopsia

Home Medications Medical Dictionary Talk Medical ... Medical Dictionary Newsletter Subscribe to the free monthly health digest. Relevant health articles just for you. Tell a friend Achromatopsia Achromatopsia: An hereditary disorder of sight due to a lack of cone vision - that type of vision provided by the cone photoreceptors in the retina. In the normal eye, there are some 6 million cone photoreceptors; they are located largely in the center of the retina. Lacking cones, persons with achromatopsia have to rely on their rod photoreceptors. There are about 100 million rod photoreceptors which are located mainly around the periphery of the retina. Rods saturate at higher levels of illumination and do not provide color vision or good detail vision. Achromats (people with achromatopsia) are therefore completely colorblind or nearly so and have very poor visual acuity. Their eyes do not adapt normally to higher levels of illumination and are very light sensitive (photophobic). There are many degrees of severity of symptoms among achromats. Of all achromats, those who are complete rod monochromats have the most severely impaired vision. There are also incomplete rod monochromats and blue cone monochromats who are less severely affected. At high levels of illumination, the vision of achromats decreases unless they make use of tinted lenses. In moderately bright indoor spaces or outdoors just after dawn or just before dusk some achromats adapt to their reduced level of visual functioning without resorting to tinted lenses by using visual strategies such as blinking, squinting, or positioning themselves in relation to the light source. Others routinely wear medium tinted lenses in such settings. In full sunlight outdoors or in very bright indoor spaces, almost all achromats need to use very dark tinted lenses to have a reasonable amount of vision, since their retinas do not possess the photoreceptors needed for seeing well in such settings.

78. B Achromatopsia /b achromatopsia is characterized by the lack of normal cone vision. Where normaleyes have 6 million cone photoreceptors, located mostly at the center of http://www.nfss.com/b.html

Achromatopsia is characterized by the lack of normal "cone vision." Where normal eyes have 6 million cone photoreceptors, located mostly at the center of the retina, achromats have far fewer and rely on "rod vision." Rods do not provide color vision or good detail vision, thus achromat patients are typically totally colorblind or almost totally colorblind, and have poor visual acuity. The following filter selections are available. Select your filter preference. Available Filter Colors and Frame Styles are presented in each section. Glare Shields - Offer UV and Visible Spectrum Protection Matching the Corning CPF Glare Cutter product line UV Shields ... - Offer UV, Visible and Infrared protection

79. Achromatopsia Of Augusta, Georgia achromatopsia University Health Care System of Augusta, Georgia. http://www.universityhealth.org/18193.cfm

About University About Augusta Business and Industry Contact UHCS ... Nutrition Search Self-Help Resources Information about national and local self-help organizations and support groups. Achromatopsia This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site. Achromatopsia Network National network. Information and support for individuals and families concerned with the rare inherited vision disorder Achromatopsia (aka achromatopia), including both rod monochromacy and blue cone monochromacy. WRITE: Achromatopsia Network P.O. Box 214 Berkeley, CA 94701-0214 E-MAIL: editor@achromat.org WEBSITE: http://www.achromat.org VERIFIED: 3/17/2004 The above information was "verified" as correct on the date at the end of each entry. Since American Self-Help Group Clearinghouse's database is extensive but staffing is limited and information for these organizations can change, it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information on self-help groups, please visit the American Self-Help Group Clearinghouse web site at http://www.mentalhelp.net/selfhelp

80. WebMD With AOL Health - Blind / Visually Impaired achromatopsia Network. National Keratoconus Foundation. Aniridia Network achromatopsia Network PO Box 214 Berkeley, CA 947010214 http://aolsvc.health.webmd.aol.com/hw/vision/shc10.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; Thursday, September 08, 2005 WebMD Main Condition Centers Medical Library Health Tools ... Site Map You are in Women, Men, Lifestyle Choose a Topic Overview Alternative Medicine Dental Health Emotional Wellness Eye Health Fitness and Exercise Healthy Aging Healthy Men Healthy Sexuality Healthy Women Health Topics Symptoms Medical Tests Medications ... Online ROP (Retinopathy Of Prematurity) Support Group Blind / Visually Impaired American Council of the Blind National. 70 affiliates. Founded 1961. Aims to improve the well-being of all blind and visually impaired people and their families through education, support, and advocacy. National conference, information and referrals, phone support, state and special interest affiliates (e.g. guide dog users, blind lawyers, teachers and students, etc), monthly magazine (available in braille, half speed cassette, large print, diskette, and online or via e-mail). Scholarships. Online job bank. Chapter development guidelines. WRITE: American Council of the Blind 1155 15th St. NW, #1004

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 4     61-80 of 96    Back | 1  | 2  | 3  | 4  | 5  | Next 20