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  1. My Blindy Girl - A Mother's Journey Through Achromatopsia by Ellen Tomaszewski, 2009
  2. Achromatopsia: A Medical Dictionary, Bibliography, And Annotated Research Guide To Internet References by Icon Health Publications, 2004-08-20
  3. My Blindy Girl - A Mother's Journey Through Achromatopsia by Ellen Tomaszewski, 2008
  4. My Blindy Girl - a mother's journey through achromatopsia by Ellen Tomaszewski, 2010-01-17
  5. Visual Disturbances and Blindness: Color Blindness, Alice Walker, Macular Degeneration, Achromatopsia, Akinetopsia, Low Vision, Amblyopia
  6. Understanding and coping with achromatopsia by Frances Futterman, 1998
  7. Achromatopsia

81. Re: RE: Achromatopsia And Any Drivers?
In Reply to RE achromatopsia and any drivers? posted by Stacey on August 21, I have had many patients with achromatopsia (complete and incomplete)over
http://www.biopticdriving.org/archive/webboard/driving/messages/1705.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 William Park on August 28, 2001 at 05:22:59 PM EDT: In Reply to: RE: Achromatopsia and any drivers? posted by Stacey on August 21, 2001 at 11:52:26 PM EDT: : I was curious to know if anyone noticing this site has been diagnosed with complete achromatopsia, and if so, are there any drivers out there w/ the help of bioptic lenses or otherwise that could give myself and my 13 year old son any hope that he could drive some day. This eye condition is so rare, that information regarding it, can be hard to find. ANY information regarding driving and achromaptopsia would be GREATLY appreciated. Thank you.
I have had many patients with achromatopsia (complete and incomplete)over the last 16 years go through my driving program and sucessfully obtain a driving license by demonstrating safe driving skills. It also depends on the state in which you live (re: the law) what your options are. Some states are more liberal than others.
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: : I was curious to know if anyone noticing this site has been diagnosed with complete achromatopsia, and if so, are there any drivers out there w/ the help of bioptic lenses or otherwise that could give myself and my 13 year old son any hope that he could drive some day. This eye condition is so rare, that information regarding it, can be hard to find. ANY information regarding driving and achromaptopsia would be GREATLY appreciated. Thank you. : : I have had many patients with achromatopsia (complete and incomplete)over the last 16 years go through my driving program and sucessfully obtain a driving license by demonstrating safe driving skills. It also depends on the state in which you live (re: the law) what your options are. Some states are more liberal than others.

82. Homozygosity Mapping Of Achromatopsia To Chromosome 2 Using DNA Pooling -- Arbou
achromatopsia is an autosomal recessive disease of the retina, A candidategene for achromatopsia was excluded from this disease interval by radiation
http://hmg.oxfordjournals.org/cgi/content/full/6/5/689
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ISI Web of Science (27)
Request Permissions PubMed PubMed Citation Articles by Arbour, N. C. Articles by Sheffield, V. C. Human Molecular Genetics Pages Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling
Introduction

Results

Exclusion of chromosome 14

Linkage to chromosome 2
...
References
Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling
Nancy C. Arbour Joel Zlotogora Robert G. Knowlton Saul Merin Ada Rosenmann Adam B. Kanis Tatiana Rokhlina Edwin M. Stone and Val C. Sheffield Department of Pediatrics and Department of Ophthalmology, University of Iowa

83. Canine CNGB3 Mutations Establish Cone Degeneration As Orthologous To The Human A
It is phenotypically similar to human achromatopsia, a heterogeneous autosomalrecessive achromatopsia caused by novel mutations in both CNGA3 and CNGB3
http://hmg.oxfordjournals.org/cgi/content/abstract/11/16/1823
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Request Permissions PubMed PubMed Citation Articles by Sidjanin, D. J. Articles by Ostrander, E. A. Human Molecular Genetics, 2002, Vol. 11, No. 16
Oxford University Press
Canine mutations establish cone degeneration as orthologous to the human achromatopsia locus
Duska J. Sidjanin Jennifer K. Lowe John L. McElwee Bruce S. Milne Taryn M. Phippen David R. Sargan Gustavo D. Aguirre Gregory M. Acland and Elaine A. Ostrander Center for Canine Genetics and Reproduction, James A. Baker Institute for Animal Health, College of Veterinary Medicine, Cornell University, Ithaca, NY 14853, USA, Divisions of Human Biology and Clinical Research, Fred Hutchinson Cancer Research Center 1100 Fairview Avenue North, D4-100 Seattle, WA 98109, USA

84. Achromatopsia - A Medical Dictionary, Bibliography, And Annotated Research Guide
This is a 3in-1 reference book. It gives a complete medical dictionary coveringhundreds of terms and expressions relating to achromatopsia.
http://www.libreriauniversitaria.it/BUS/0497000121/Achromatopsia_-_A_Medical_Dic
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Achromatopsia - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet Referen
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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.

85. Achromatopsia - General Practice Notebook
achromatopsia is the inability to perceive colour. The patient may report seeingin shades of grey. The lesion is usually in the contralateral
http://www.gpnotebook.co.uk/cache/892665922.htm
achromatopsia Achromatopsia is the inability to perceive colour. The patient may report seeing in shades of grey. The lesion is usually in the contralateral occipito-temporal cortex.
Click here for more information...

86. Journal Of Vision - Patterns Of Cortical Damage In Achromatopsia And Prosopagnos
For achromatopsia, a voxelby-voxel analysis revealed a single region of maximum Although rare, selective cases of achromatopsia and prosopagnosia
http://journalofvision.org/4/8/205/
Volume 4, Number 8, Abstract 205, Page 205a doi:10.1167/4.8.205 http://journalofvision.org/4/8/205/ ISSN 1534-7362 Patterns of cortical damage in achromatopsia and prosopagnosia Seth E. Bouvier University of California, Los Angeles USA Stephen A. Engel Abstract
History Received June 9, 2004; published August 13, 2004 Citation Journal of Vision http://journalofvision.org/4/8/205/, doi:10.1167/4.8.205. Keywords None On-Line Presentation None for related articles by these authors
for papers that cite this paper Get citation -Select Format- BibTeX EndNote MEDLARS ProCite ReferenceManager Get help with this

87. Health/Conditions And Diseases/Eye Disorders/Color Blindness/Achromatopsia -- Th
The achromatopsia Group Internet resource center, support group, Understandingachromatopsia Vision specialists explain how this condition is inherited,
http://www.thedoctorslounge.net/dir/Health/Conditions_and_Diseases/Eye_Disorders
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  • report abuse/spam url: report-abuse.dmoz.org/?cat=Health/Conditions_and_D... The Achromatopsia Group Internet resource center, support group, and discussion forum for people affected by the rare vision disorder. url: www.achromatopsia.org/ The Achromatopsia Network A network for individuals and families affected by the vision disorder including rod monochromacy and blue cone monochromacy. url: www.achromat.org/ Blue Cone Monochromacy A discussion board for those affected by BCM. Read the contents, search and post from this location. url: www.yandle.com/bcm Incomplete and Complete Achromatopsia Describes the differences between the conditions and its significance. url: serendip.brynmawr.edu/bb/neuro/neuro98/202s98-pape...
  • 88. Science Blog - Science Gifts - Achromatopsia Network Journal
    Research News in Science, Health, Medicine, Space, Physics and More.
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    89. Achromatopsia
    Larger Ca2+ permeability of mutant cone CNG channels causes incompleteachromatopsiaGenetic analyzes identified mutations that have been associated with
    http://www.fz-juelich.de/ibi/ibi-1/Achromatopsia/
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    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

    90. What Is Achromatopsia? - Healthfinder®
    A description of congenital achromatopsia a rare hereditary vision disorder including symptoms and diagnosis with some emphasis on the different
    http://mentalhealth.about.com/library/h/docs/bld04508.htm
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    What is Achromatopsia?
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    A description of congenital achromatopsia a rare hereditary vision disorder including symptoms and diagnosis with some emphasis on the different diagnostic terms that have been applied to patients who have congenital achromatopsia. Keywords: Achromatopsia Adults Consumer Resources Research Visual Impairment
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    91. Health Library -
    en.mimi.hu/disease/achromatopsia.html Qango Health Diseases and Conditions A achromatopsiaQango Directory achromatopsia, all of Qango only this category, Options Help Home Health Diseases and Conditions A achromatopsia, Suggest a Site
    http://12.31.13.113/library/healthguide/en-us/SelfHelp/topic.asp?hwid=shc29ach

    92. Maskun - Enpsychlopedia
    www.oedilf.com/db/Lim.php?Word=achromatopsia www.recipeland.com/encyclopaedia/index.php/Achroma Arch Ophthalmol Abstract Congenital Xlinked incomplete Congenital X-linked incomplete achromatopsia. Evidence for slow progression,carrier fundus findings, and possible genetic linkage with glucose-6-phosphate
    http://psychcentral.com/psypsych/Achromatopsia
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    Maskun
    (Redirected from Achromatopsia Maskun is a medical condition (also called achromatopsia ) characterized by a low cone count or lack of function in cone cells; these are the light receptors responsible for colour perception. It is endemic on Pohnpei and was described by Oliver Sacks in Island of the Colourblind . Sacks went there with a Norwegian who had maskun, and the book narrates his experiences on the island. People with maskun have difficulty seeing in bright daylight because their rod cells (the receptors responsible for detecting brightness) are saturated. People with normal colour vision do not perceive things in the same way as those with maskun, because they depend on colour more than on luminosity to identify objects and patterns, whereas achromatopics depend almost entirely on luminosity to identify patterns. The closest that normal-sighted persons can come to experiencing maskun-type vision is in the dark, when the rod cells become the predominant receptors for vision due to their sensitivity to variations in brightness. Achromatopsia can vary in its severity from being mild enough that it is not diagnosed to causing near blindness. It is a relatively rare condition requiring two recessive genes. The condition is generally stable over the course of one's life. Many achromats function normally with the aid of darkened lenses, while others use guide dogs, canes, and are considered legally blind.

    93. Achromatopsia Caused By Novel Mutations In Both CNGA3 And CNGB3 -- Johnson Et Al
    Complete achromatopsia or rod monochromatism is a stationary cone dystrophy, Individuals with incomplete achromatopsia retain some colour vision.3
    http://jmg.bmjjournals.com/cgi/content/extract/41/2/e20

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    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 Alert me to new issues of the journal ... 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

    94. Mapping Of A Novel Locus For Achromatopsia (ACHM4) To 1p And Identification Of A
    Objective To determine the molecular basis for achromatopsia using autozygosity After excluding linkage to the two known achromatopsia genes (CNGA3 and
    http://jmg.bmjjournals.com/cgi/content/full/39/9/656

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    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

    95. Pingelapese Achromatopsia: Correlation Between Paradoxical Pupillary Response An
    Conclusions Clinical manifestations of achromatopsia include total colour Complete achromatopsia or rod monochromatism is a rare autosomal recessive
    http://www.bjophthalmol.com/cgi/content/full/88/2/223

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    Other ophthalmology
    British Journal of Ophthalmology
    BMJ Publishing Group Ltd
    SCIENTIFIC REPORT
    Pingelapese achromatopsia: correlation between paradoxical pupillary response and clinical features
    G J Ben Simon F A Abraham and S Melamed The Goldschleger Eye Institute, Sheba Medical Center, Tel-Hashomer, Israel, 52621 Correspondence to:
    Guy J Ben Simon
    MD, The Goldshcleger Eye Institute, Sheba Medical Center, Tel Hashomer, Israel 52621; Accepted for publication 1 July 2003
    ABSTRACT
    Aim: To evaluate the paradoxical pupillary constriction in darkness in patients with Pingelapese achromatopsia (PA), and to describe

    96. Color Vision Deficiency - Types - VisionChannel
    achromatopsia is the congenital, or inherited, inability to see color, A person with achromatopsia perceives the visual world in shades of gray, black,
    http://www.visionchannel.net/colorvision/types.shtml
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