81. Re: Achromatopsia Re achromatopsia. From Hi i m interested in achromatopsia . Date 11 Dec 2002 Time 132039. Comments. Hi nicole, My name is Lurka http://www.yandle.com/bcm/_disc/00000046.htm

Blue Cone Monochromacy Home Contents Search Post ... Up Re: Achromatopsia From: Hi i'm interested in achromatopsia.... Date: 11 Dec 2002 Time: Comments Last changed: December 11, 2002

82. Re: RE: Achromatopsia And Any Drivers? Re RE achromatopsia and any drivers? Posted by John Knox on August 22, 2001 at 103524 AM EDT In Reply to Re RE achromatopsia and any drivers? http://www.biopticdriving.org/archive/webboard/driving/messages/1691.html

BiOptic Driving Network HOME CONTACT THANKS NEWS ... Horde login Re: RE: Achromatopsia and any drivers? Follow Ups Post Followup Low Vision Driving Posted by John Knox on August 22, 2001 at 10:35:24 AM EDT: In Reply to: Re: RE: Achromatopsia and any drivers? posted by Simon Phillips on August 22, 2001 at 05:38:45 AM EDT: Now to answer the question (which is based on information I gathered from the publication "Understanding and Coping with Achromatopsia"), there are very few persons diagnosed with achromatopsia who have sufficient vision to become drivers. The average visual acuity of persons with achromatopsia ranges from 20/160 to 20/200; there is a wide range of visual functioning among persons diagnosed with achromatopsia. In addition to the individual's range of acuity, much will also depend on the degree of photophobia (sensitivity to light) which can also greatly affect daytime acuity. For example, my 4-yr-old functions quite normally indoors and many people don't even realize he is visually impaired (indoors); but as soon as he is outdoors in daylight, even with dark sunglasses, it becomes quite apparent that he has greatly reduced acuity. I believe that those people with achromatopsia who do drive are likely "incomplete achromats" meaning that there is some degree of functioning cone photoreceptor cells in the retina. Traits to look for that "might" indicate a future in driving would include: a high degree of visual functioning, minimal photophobia, ability to easily use monocular aids, and a long-term demonstration in daytime orientation and mobility such as bike riding, skating, etc, especially.

83. Achromatopsia incomplete achromatopsiaGenetic analyzes identified mutations that have been associated with recessively inherited colorblindness, also known as achromatopsia. http://www.fz-juelich.de/ibi/ibi-1/Achromatopsia/

INSTITUTE FOR BIOLOGICAL INFORMATION PROCESSING (IBI) CELLULAR SIGNAL PROCESSING (IBI-1) IBI Home IBI-1 Home Research Topics Highlights ... 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

84. Amazon.com: Magazine Subscriptions: Achromatopsia Network Newsletter [NEWSLETTER achromatopsia Network Newsletter. Title, achromatopsia Network Newsletter. Manufacturer, achromatopsia Ntwk%f Futterman. Category, Magazine http://magazines.ilomilo.de/Achromatopsia-Network-Newsletter-B00006K1IX.html

Your Gold Box Search browse subjects top ... professional SEARCH Magazines Newspapers Newsletters All Products Top Sellers in : Explore this magazine buying info editorial reviews Share your thoughts write a review e-mail a friend about this item RATE THIS MAGAZINE I dislike it I love it! Edit your ratings White Sale Sign in to turn on 1-Click ordering. Don't have one? We'll set one up for you. Achromatopsia Network Newsletter [NEWSLETTER SUBSCRIPTION] Price: Read more Publishers: add a cover image and description to your magazine or periodical. Ready to Renew? Learn how Counts toward FREE Super Saver Shipping on orders over $25. See details Availability: Irregular. Read more Cancellation: This magazine subscription cannot be canceled or refunded. Read more Amazon.com = low prices. Did you find this subscription priced lower than $49.55 somewhere else? See more product details Product Details Format: Magazine Shipping: Currently, item can be shipped only within the U.S. Publisher: Achromatopsia Ntwk%f Futterman ASIN: For magazine orders, your name and mailing address will be shared with the appropriate publisher. This magazine subscription is provided by Magazine Express, Inc.

85. The University Of Chicago Press - Doi:10.1086/302423 All rights reserved. Homozygosity Mapping of the achromatopsia Locus in the Pingelapese. Figure 1 Pedigrees of three Pingelapese families with achromatopsia. 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

86. GeneCards Disorder Information: Achromatopsia-3 GeneCards Disorder Information achromatopsia3. Search different databases containing disease information by clicking on the buttons below. http://genecards.bcgsc.ca/cgi-bin/disodisp?Achromatopsia-3

87. Re: RE: Achromatopsia And Any Drivers? Re RE achromatopsia and any drivers? Posted by Michael Zaleski on August 22, 2001 at 120557 PM EDT In Reply to Re RE achromatopsia and any drivers? http://www.albinism.org/webboard/driving/messages/1692.html

Re: RE: Achromatopsia and any drivers? Follow Ups Post Followup Low Vision Driving Posted by Michael Zaleski on August 22, 2001 at 12:05:57 PM EDT: In Reply to: Re: RE: Achromatopsia and any drivers? posted by John Knox on August 22, 2001 at 10:35:24 AM EDT: : I believe that those people with achromatopsia : who do drive are likely "incomplete achromats" I am an incomplete achromat and I have a NJ driver's license and previously had one in NY. The information posted (the whole article, edited for brevity) agrees with what I have learned talking to eye doctors. Follow Ups: Re: RE: Achromatopsia and any drivers? Randy Willoughby 10:18:47 PM 08/27/01 These webboards are no longer accepting new posts. For interactive discussions related to albinism please visit NOAH's Albinism On-lineCommunity at http://www.albinism.org/aoc.html

88. Re: RE: Achromatopsia And Any Drivers? Re RE achromatopsia and any drivers? Posted by Randy Willoughby on August 27, 2001 at 101847 PM EDT In Reply to Re RE achromatopsia and any drivers? http://www.albinism.org/webboard/driving/messages/1701.html

Re: RE: Achromatopsia and any drivers? Follow Ups Post Followup Low Vision Driving Posted by Randy Willoughby on August 27, 2001 at 10:18:47 PM EDT: In Reply to: Re: RE: Achromatopsia and any drivers? posted by Michael Zaleski on August 22, 2001 at 12:05:57 PM EDT: : : I believe that those people with achromatopsia : : who do drive are likely "incomplete achromats" : I am an incomplete achromat and I have a NJ : driver's license and previously had one in NY. : The information posted (the whole article, edited : for brevity) agrees with what I have learned : talking to eye doctors. I am a partial achromat and have held a driver's licence in Manitoba for a little more than 5 years. I agree with Mr. Zaleski that Mr. Knox is correct in his observations: Follow Ups: These webboards are no longer accepting new posts. For interactive discussions related to albinism please visit NOAH's Albinism On-lineCommunity at http://www.albinism.org/aoc.html

89. HUM-MOLGEN: ACHROMATOPSIA (TOTAL COLOURBLINDNESS) GENE IDENTIFIED achromatopsia (TOTAL COLOURBLINDNESS) GENE IDENTIFIED, June, 30 2000 025, The island of the colourblind In 1775, the western Pacific http://www.hum-molgen.de/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

90. Network Of Care Results Self Help Clearinghouse. achromatopsia. This information achromatopsia Network. Back to Top. National network. Information and support http://santacruz.networkofcare.org/aging/library/hwdetail.cfm?hwid=shc29ach&cat=

91. A1: Abetalipoproteinemia | Acanthosis Nigricans | Acanthamoeba | ACE Inhibitor | Copyright © 20012005 ESAURUS.ORG. http://www.esaurus.org/a_list.htm

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