1. THE ACHROMATOPSIA NETWORK A network for individuals and families affected by the vision disorder achromatopsia (sometimes called achromatopia), including rod monochromacy and blue cone http://www.achromat.org/

THE ACHROMATOPSIA NETWORK P.O. Box 214, Berkeley, CA 94701-0214 USA An information and support network for individuals and families who are affected by the rare inherited vision disorder achromatopsia (sometimes called achromatopia), including both rod monochromacy and blue cone monochromacy Welcome to the Home Page of The Achromatopsia Network The purposes of this website are: (1) To provide information about achromatopsia, the Achromatopsia Network, and the publications that are available for individuals and families affected by achromatopsia. (2) To make connections with persons who may wish to join this network. Individuals who have achromatopsia and families with children or teens who have achromatopsia are invited to become members of the network. Interested professionals involved in providing services or products to the visually impaired are invited to become "Friends of the Achromatopsia Network." (See How to participate in the network. Table of Contents What is achromatopsia? The development of the Achromatopsia Network Purposes of the network and of the network publications Information about what is offered and about ways to connect with the network Subjects with which our network and publications for the network are concerned special needs of persons with achromatopsia Possibilities for networking Who's in the Achromatopsia Network?

2. WHAT IS ACHROMATOPSIA? What Is achromatopsia? Persons with complete achromatopsia must rely on their rod vision. In the normal eye there are 100 million rod photoreceptors. http://www.achromat.org/what_is_achromatopsia.html

What Is Achromatopsia? Congenital achromatopsia is a rare hereditary vision disorder which affects 1 person in 33,000 in the U. S. The incidence varies in different parts of the world. Persons who have achromatopsia do not have normal "cone vision." In normal eyes there are 6 million cone photoreceptors, located mostly at the center of the retina. Persons with complete achromatopsia must rely on their "rod vision." In the normal eye there are 100 million rod photoreceptors. Rods are located mostly at the periphery of the retina. Rods "saturate" at higher levels of illumination. Rods do not provide color vision or good detail vision. Therefore, persons with achromatopsia are either totally colorblind or almost totally colorblind, and they have poor visual acuity. Without normal cone vision, their eyes are not able to adapt normally to higher levels of illumination. There are many variations in the severity of these symptoms among individual achromats. There are complete rod monochromats, incomplete rod monochromats, and blue cone monochromats. Complete rod monochromats have the most severely impaired vision of all achromats. Various diagnostic terms have been applied to patients who have congenital achromatopsia. Some of these terms have been applied inaccurately (misdiagnosis has been a common problem for members of our network), and some of the terms simply demonstrate the fact that the nomenclature in use can vary considerably among different vision care specialists and in different parts of the world. Sometimes a patient with rod monochromacy is diagnosed as having cone dystrophy, because some vision care professionals are accustomed to thinking of all patients with inherited disorders of the cones as having cone dystrophy. Congenital achromatopsia, however, should never be confused with progressive cone dystrophy or cone/rod dystrophy. Congenital achromatopsia the condition for which this network was established is not progressive, and it does not lead to blindness. Some doctors refer to it as "stationary cone dystrophy."

3. Achromatopsia rod monochromacy and blue cone monochromacy. Health on the Net, Code of Conduct for Medical and Health Web Sites) of the Health On the Net Foundation. 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 PBS documentary, Island of the Colorblind Book, The Island of the Colorblind , by Oliver Sacks 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)

4. The Achromatopsia Group Internet resource center, support group, and discussion forum for people affected by the rare vision disorder. http://www.achromatopsia.org/

The Achromatopsia Group Internet Resource Center Discussion Forum Welcome to the recently formed consolidated internet resource center , support group, and discussion forum rod monochromacy, which affects approximately 8,500 persons in the United States (about 1 in 33,000). Typical symptoms of achromatopsia include photophobia (hypersensitivity to light), color blindness, poor visual acuity, and nystagmus (wobbly eyes). This is a result of few or no cone photoreceptor cells in the retina. People with achromatopsia depend on their rod photoreceptor cells which do not provide color or detail vision, and become saturated by light. Coping with hypersensitivity to light is a major issue. Our Mission and Goals Go To 'Achromatopsia Group' Discussion Forum Go To Achromatopsia Internet Resource Center For more information, email info@achromatopsia.org Last Updated 27 October 2001

5. Incomplete And Complete Achromatopsia Describes the differences between the conditions and its significance. http://serendip.brynmawr.edu/bb/neuro/neuro98/202s98-paper2/DeCastro2.html

This paper was written by a student in a course at Bryn Mawr College, and reflects that student's research and thoughts at the time the paper was written. Like other things on Serendip , the paper is not intended to be "authoritative" but is instead provided to encourage others to themselves learn about and think through subjects of interest, and, by providing relevant web links, to serve as a "window" to help them do so. Web links were active as of the time the paper was posted but are not updated. Biology 202 1998 Second Web Reports On Serendip Incomplete and Complete Achromatopsia Elaine de Castro The human eye requires both rods and cones for normal vision. Over 100 million rods are located in the periphery of the human eye, and about 6 million cones compose the fovea. Rods, the more sensitive of the two to light, are not able to differentiate wavelengths, thus cannot detect color, and perceive shades of grey, black, and white. Cones, on the other hand, are of three types, containing particular pigments. They are categorized as red, blue, and green depending on to which wavelength they are most sensitive. These cones are what render color vision to humans. Red-green color blindness is not uncommon in the general population. The unequal crossover in the X-chromosome which causes this disorder is much more easily achieved than the mechanisms which cause other types of color blindness, due to the proximity of the two pigment genes. Five to eight percent of men are affected with this genetic condition, and due to a lacking pigment, have trouble distinguishing between red, green and brown.

6. The Family Village / Library / Achromatopsia to provide information about achromatopsia, The achromatopsia Network, and the publications Individuals who have achromatopsia and families with children or teens who have http://www.familyvillage.wisc.edu/lib_achr.htm

Achromatopsia Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search AltaVista for "Achromatopsia" Who to Contact Achromatopsia Network P.O. Box 214 Berkeley, CA 94701-0214 E-mail: Editor@achromat.org Website: http://www.achromat.org/ The purpose of this Network is to provide information about achromatopsia, The Achromatopsia Network, and the publications that are available through the network. In addition, it seeks to make connections with persons who may wish to join this network. Individuals who have achromatopsia and families with children or teens who have achromatopsia are invited to become members. Interested professionals involved in providing services or products to the visually impaired are invited to become "Friends of The Achromatopsia Network." Persons who are affected by other eye conditions which cause vision problems similar to those caused by achromatopsia, such as hypersensitivity to light and total or almost total colorblindness, are also welcome to connect with this network. Where to Go to Chat with Others We are unaware of any discussion groups or forums specifically for this diagnosis. However, there are several forums that may be of interest to parents of children with disabilities or special health care needs regardless of diagnosis. See

7. Achromatopsia - Low Vision --NoIR Medical Technologies achromatopsia sunglasses specially made from NoIR Medical Technologies. http://www.noir-medical.com/achrom.htm

NoIR Medical Technologies Achromatopsia Colors 4% Dark Red UVShield U93 45% Red UVShield U90 59% Light Red UVShield U98 4% Dark Red NoIR 199 ... 40% Light Red NoIR 191 For Achromatopsia patients, our standard colors are light, medium, and dark red. Glasses available in three Fit-Over sizes: Large, Medium and Small with 400 Series Flip-up Clip-Ons. Select the sunglass for more information. Percents (%) represent amount of visible light transmitted through each lens. Home Catalog To Order Search ... Contact Us NoIR Medical Technologies P.O. Box 159 South Lyon, MI 48178 800-521-9746 USA 734-769-1708 FAX top

8. Ask NOAH About: The Eye U. W. achromatopsia. achromatopsia The achromatopsia Network. What is achromatopsia? - The achromatopsia Network. Amblyopia http://www.noah-health.org/english/illness/eye/eye.html

Ask NOAH About: The Eye Common Eye Health Topics Care and Treatment Basic Eye Information Basic Anatomy Normal Vision Optical Illusions ... Social Resources Related Concern Information Resources Eye Care Special Concerns Clinical Trials and New Medications Enucleation and Orbital Implants Eye Health and Safety ... Research Common Eye Health Topics Basic Eye Information Anatomy Eye Anatomy - Phillips Eye Institute Physical Structures of the Eye - Univ of Pennsylvania Glossary - Boston University Glossary of Eye Terminology - Methodist Health Care System, Houston TX (also in Spanish The Eyes (Complete Home Medical Guide/Columbia University Heredity of Eye Color - McGraw Hill How We See Things That Move - Howard Hughes Medical Institute, Chevy Chase, MD ... What Is the Blind Spot? - Serendip Normal Vision 20/20 Vision - American Optometric Association (AOA) Find good habits for good eyes - American Association of Retired Persons Infants' Vision - American Optometric Association (AOA) Your School-age Child's Eyes - American Optometric Association (AOA) ... Vision Changes During Pregnancy - BabyZone Optical Illusions Fading Dot - The Exploratorium, San Francisco CA

9. Achromatopsia - Medical Dictionary Definitions Of Popular Medical Terms Online Medical Dictionary and glossary with medical definitions achromatopsia An hereditary disorder of sight due to a lack of cone vision that type of vision Lacking cones, persons with http://www.medterms.com/script/main/art.asp?articlekey=11286

10. Achromatopsia Displaying listings 13. achromatopsia From the Online Mendelian Inheritance in Man From the Online Mendelian Inheritance in Man Back http//laran.waisman.wisc.edu/fv/www/lib_ achr.htm achromatopsia an information and support network for individuals and families concerned with http://www.doctorpage.com/findit/Diseases_and_Conditions/Achromatopsia

doctorpage Diseases and Conditions Achromatopsia Displaying listings 1-3 Achromatopsia From the Online Mendelian Inheritance in Man From the Online Mendelian Inheritance in Man Back http://laran.waisman.wisc.edu/fv/www/lib_achr.htm Achromatopsia an information and support network for individuals and families concerned with the rare inherited vision disorder achromatopsia, including both rod monochromacy and blue cone monochromacy. http://www.kumc.edu/gec/support/achromat.html THE ACHROMATOPSIA NETWORK A network for individuals and families affected by the vision disorder achromatopsia (sometimes called achromatopia), including rod monochromacy and blue cone monochromacy. http://www.achromat.org/ Listings 1-3 of 3 displayed. Add a Site to This Page Get A Free Site Find Physicians Cosmetic Surgery ... Findit Try this search on... HotBot Infoseek AltaVista Excite ... Metacrawler doctor page .com

11. Achromatopsia And Color Blindness achromatopsia. Understanding achromatopsia. achromatopsia is an inherited condition that affects approximately 1 in every 33,000 Americans. http://www.lowvision.org/achromatopsia_and_color_blindnes.htm

Achromatopsia Understanding Achromatopsia Richard L. Windsor, O.D., F.A.A.O. Laura K. Windsor, O.D., F.A.A.O. Published in Vision Enhancement Journal Achromatopsia is an inherited condition that affects approximately 1 in every 33,000 Americans. It is also known as rod monochromatism. This condition is associated with color blindness, visual acuity loss, extreme light sensitivity and nystagmus. It is a condition found throughout the world with varying incidence. There are two primary forms, the complete achromatopsia and incomplete achromatopsia. C omplete Achromatopsia A chromatopsia means “without color” and is defined as little or no function of the cone cells. Persons with achromatopsia are only able to perceive black, white and shades of gray. Patients with complete achromatopsia have no real understanding of the concept of color. A color like red may be perceived as dark gray while yellow may be perceived as a light gray. The vision is much like that of a black and white photograph with varying shades of gray. Incomplete Achromatopsia atients with incomplete achromatopsia have profound color impairment, but do have a small residual amount of color vision and slightly better visual acuity due to the presence of some functioning cone cells in the retina.

12. Welcome To InteliHealth achromatopsia. Color blindness takes many forms. The most severe is achromatopsia, a partial or complete lack or dysfunction of the cone cells. http://www.intelihealth.com/hope/htmH27index.html

Achromatopsia Color blindness takes many forms. About one in ten boys and one in 250 girls are born with red-green color blindness, which is usually no more than an annoyance. But color blindness has much more seriousthough much rarerforms. The most severe is achromatopsia, a partial or complete lack or dysfunction of the cone cells. These are the color-sensing cells in the retina in the back of the eye. People with achromatopsia can see little or no color. They also never develop sharp vision; they are especially limited in their ability to see at a distance. Most are legally blind, with visual acuities around 20/200. This inherited disorder affects about 1 person in 33,000. Most patients are diagnosed as children. The main symptom of achromatopsia is extreme sensitivity to light (photophobia). Patients are blinded by the sun when they're outdoors. Some are so sensitive to light that they're uncomfortable even indoors in a normally lit room. The condition is hard to diagnose because the back of the eyes usually look normal when the doctor checks them. The diagnosis is made by the person's symptoms and an electroretinogram, which must be done at a special clinic. While there is no cure, the symptoms can be managed. Patients can control glare by wearing wraparound sunglasses and a broad-brimmed hat. An eye doctor can prescribe tinted contact lenses that cut glare and let patients see more clearly (the young boy in the TV spot got red lenses). Patients may also benefit from low vision rehabilitation, which may also include occupational therapy, orientation and mobility instruction (to learn safe walking and travel skills), social work, genetic counseling, and consultation with a teacher of the visually impaired.

13. HealthlinkUSA Achromatopsia Links Search results from 9 different search engines. Finding achromatopsia is a Click Away at 2020Search.com re looking for on%3A achromatopsia%3F 2020Search will instantly provide you http://www.healthlinkusa.com/Achromatopsia.htm

14. Achromatopsia A short discription about achromatopsia and what it is. A person with achromatopsia does not have normal cone vision, which makes them Individuals affected with achromatopsia are either totally colorblind or almost totally colorblind http://www.eyeconditions.homestead.com/Achromatopsia.html

Achromatopsia Incomplete Achromatopsia or Blue Cone Monochromatism an X-linked recessive disorders with absent red and green cone responses but normal rod and blue cone function. It is due to rearrangement of the red and green opsin genes or deletion of an adjacent regulatory region. Cerebral Ahromatopsia An acquired form of total colorblindness that can result from trauma, illness, or some other cause. Persons who develop cerebral achromatopsia report that they see a monochromatic world, all in shades of gray. They are able to see gray because of having previously experienced color vision, making it possible for them to perceive the absence of color as gray. Diagnosis: Treatment: Technology and science have yet to find a truly effective way to correct this vision deficiency. The histology of the blue cone monochromat eye has yet to be discovered, much less the true functioning of the achromat eye. The condition of complete achromatopsia is more than simply complete color-blindness, but a combination of other symptoms including reduced visual acuity, photophobia, and nystagmus. Achromatopsia Network http://www.achromat.org/what_is_achromatopsia.html

15. Achromatopsia Serendip achromatopsia. Marion Howard. cones. The symptoms of achromatopsia provide an excellent illustration for the functioning of rod vision. http://serendip.brynmawr.edu/bb/neuro/neuro99/web2/Howard.html

Biology 202 1999 Second Web Reports On Serendip Achromatopsia Marion Howard When I was young, I was told that "color blindness" did not mean that the person saw the world like an old movie, but rather it meant that they could not distinguish between green and red. I thought that this understanding was very advanced and would quickly share my knowledge with any less-informed children. After looking into the matter, I have been forced to reject this generalization in favor of a broader range of diseases resulting in very different types of inabilities to perceive color in a "normal" fashion. While the typical color blindness I was told about affects 8 percent of men and less than 1 percent of women in the United States , there are many other types. The most common types of color blindness, effecting red and green vision, are not too serious for the sufferers, who can function normally and do not have overly impaired vision other than an inability to distinguish between certain colors. There are, however, more serious forms of "color blindness", such as blue cone monochromatopsia, partial rod monochromatopsia, and total rod monochromatopsia . The rod monochromats are also known as achromats, meaning they see no color at all. Only about 1/33,000 Americans has this disease, and women and men are effected roughly equally

16. Links Page - The Achromatopsia Group The achromatopsia Group Internet Resource Center Back to Main PageDiscussion Forum. Please email suggested links to webmaster@achromatopsia.org. http://www.achromatopsia.org/links.htm

The Achromatopsia Group Internet Resource Center Back to Main Page Discussion Forum Below are some useful links to various sites (achromatopsia, related disorders, support organizations, low vision resources, education resources, and research articles) Please email suggested links to webmaster@achromatopsia.org The Achromatopsia Network - EXCELLENT site containing the most accurate and comprehensive information available on the subject of achromatopsia (e.g. go to " What Is Achromatopsia? "). Offers several superb publications, including Understanding And Coping With Achromatopsia Living With Achromatopsia Complete Colorblindness , and The Island Of The Colorblind (by Oliver Sacks) , as well as The Achromatopsia Network Journal newsletter. This should be the starting point for anyone wanting to learn more about achromatopsia Vision In A Complete Achromat: A Personal Account - By Knut Nordby. An autobiographical description of how an achromat from Norway has coped with achromatopsia. Note: this article is listed with the permission of Knut Nordby.

17. Achromatopsia achromatopsia. Day night. A person with achromatopsia does not have normal cone vision, which makes them rely mainly on their rod vision. http://eyeconditions.homestead.com/Achromatopsia.html

Achromatopsia Incomplete Achromatopsia or Blue Cone Monochromatism an X-linked recessive disorders with absent red and green cone responses but normal rod and blue cone function. It is due to rearrangement of the red and green opsin genes or deletion of an adjacent regulatory region. Cerebral Ahromatopsia An acquired form of total colorblindness that can result from trauma, illness, or some other cause. Persons who develop cerebral achromatopsia report that they see a monochromatic world, all in shades of gray. They are able to see gray because of having previously experienced color vision, making it possible for them to perceive the absence of color as gray. Diagnosis: Treatment: Technology and science have yet to find a truly effective way to correct this vision deficiency. The histology of the blue cone monochromat eye has yet to be discovered, much less the true functioning of the achromat eye. The condition of complete achromatopsia is more than simply complete color-blindness, but a combination of other symptoms including reduced visual acuity, photophobia, and nystagmus. Achromatopsia Network http://www.achromat.org/what_is_achromatopsia.html

18. HealthlinkUSA Achromatopsia Links Kanoodle.com. You can find achromatopsia right now at Info.com. Click here for page 1 of achromatopsia information from the HealthlinkUSA directory. http://www.healthlinkusa.com/2ent.htm

19. Achromatopsia; Treatment, Prevention, Cure achromatopsiaSearch information from many of the best achromatopsia health sites. achromatopsia While there is no cure, the symptoms can be managed. http://www.healthlinkusa.com/content/2.html

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20. Achromatopsia And The Underlying Bioelectrochemistry DETERMINING THE BIOLOGICAL (FUNCTIONAL) LOCUS OF achromatopsia AS A SYNDROME based on. achromatopsia IS CAUSED BY A SINGLE POINT FAILURE. 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.

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