41. UnderstandingAchromatopsia.- Vision World Wide. page. Understanding achromatopsia. by Indiana. achromatopsia is an inheritedcondition that affects approximately 1 in every 33,000 Americans. http://www.visionww.org/drswindsor-achromatopsia.htm

HOME Services Journal, Helpline, Email list, Consumer Protection, Info packs About us ... Back to our Medical Information page Understanding Achromatopsia by Richard L. Windsor, O.D. Laura K. Windsor, O.D. The Low Vision Centers of Indiana 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. Complete Achromatopsia Achromatopsia 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.

42. Clinical Assessment Of Complex Visual Dysfunction Learn to recognize the clinical manifestations of visual agnosia, achromatopsia,alexia, Balint´s syndrome, and akinetopsia. Focus On achromatopsia. http://www.medscape.com/viewarticle/410860_3

43. An Example Of A Bottleneck: Achromatopsia Is The Complete Or Near-complete Inabi Slide 6 of 13. http://faculty.uca.edu/~benw/biol4415/lecture7a/sld006.htm

44. An Example Of A Bottleneck: Achromatopsia Is The Complete Or Near-complete Inabi An example of a bottleneck achromatopsia is the complete or nearcompleteinability to see any colors. Itís very rare worldwide http://faculty.uca.edu/~benw/biol4415/lecture7a/tsld006.htm

An example of a bottleneck: Achromatopsia is the complete or near-complete inability to see any colors. Itís very rare worldwide, but on the tiny island of Pingelap in the Pacific Ocean, about 6% of the people are affected. This is partly due to the founder effect, but also due to a hurricane and crop failure in the 1820s that reduced the population to about 20ósome of whom just happened to be carriers of achromatopsia! Previous slide Next slide Back to first slide View graphic version

45. ORPHANET® : Achromatopsia Incomplete Translate this page ORPHANET. ORPHANET database access. achromatopsia incomplete. Direct accessto details Alias Blue cone monochromatism,Cone dystrophy. Home Page. http://www.orpha.net/static/GB/achromatopsia_incomplete_x.html

ORPHANET database access Achromatopsia incomplete Direct access to details Alias : Home Page

46. Achromatopsia achromatopsia. Follow Ups Post Followup New England Eye Centerdiscussion board Posted by Christina on March 06, 192002 at 223652 http://www.neec.com/messages/2595.html

Achromatopsia Follow Ups Post Followup New England Eye Center discussion board Posted by Christina on March 06, 192002 at 22:36:52: I am told their is no sugery available for this birth defect (no cone vision) in the United States. Can anyone tell me if implanting cones into retnias is being done in other countries. A friend told me that 'a friend' had such surgery in Columbia as an infant. Does anyone have any knowledge in this? Follow Ups: Post a Followup Name: E-Mail: Subject: Comments: : I am told their is no sugery available for this birth defect (no cone vision) in the United States. Can anyone tell me if implanting cones into retnias is being done in other countries. A friend told me that 'a friend' had such surgery in Columbia as an infant. Does anyone have any knowledge in this? Optional Link URL: Link Title: Optional Image URL: Follow Ups Post Followup New England Eye Center discussion board

47. HUM-MOLGEN: ACHROMATOPSIA (TOTAL COLOURBLINDNESS) GENE IDENTIFIED achromatopsia (TOTAL COLOURBLINDNESS) GENE IDENTIFIED, June, 30 2000 025, yourinformation resource in human molecular genetics. The island of the colourblind 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

48. E-Doc: Achromatopsia Medical Dictionary. achromatopsia. Total colour blindness. Alsocalled achromatopia. Information last Updated 199706-27. http://www.edoc.co.za/medilink/dict/118.html

Medical Dictionary Achromatopsia Total colour blindness. Also called achromatopia. Information last Updated: 1997-06-27 Contact Us E-Doc Send Questions and comments to the Pagemaster HTML by: E-Doc Reprohouse Last updated: 06 October 1999

49. Re: Achromatopsia Re achromatopsia. From Hi i'm interested in achromatopsia . Date11 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

50. Clinical Features Of Achromatopsia In Swedish Patients With Title Clinical features of achromatopsia in Swedish patients with defined genotypes.Authors Eksandh, Louise and Kohl, Susanne and Wissinger, Bernd. http://eprints.lub.lu.se/archive/00010718/

51. Achromatopsia - General Practice Notebook Practice Notebook. achromatopsia. achromatopsia is the inability to perceivecolour. The patient may report seeing in shades of grey. The 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...

52. Clinical Features Of Achromatopsia In Swedish Patients With Defined Genotypes Research report. Clinical features of achromatopsia in Swedish patients withdefined genotypes. Louise Eksandh 1 , Susanne Kohl 2 and Bernd Wissinger 2. http://www.szp.swets.nl/szp/journals/og232109.htm

Ophthalmic Genetics 2002, Vol.23, No.2, pp. 109-120 Research report Clinical features of achromatopsia in Swedish patients with defined genotypes Louise Eksandh , Susanne Kohl and Bernd Wissinger University Hospital, Department of Ophthalmology, Lund, Sweden University Eye Hospital, Molekulargenetisches Labor, Tuebingen, Germany Keywords: Achromatopsia , rod monochromacy , blue-cone monochromacy , full-field ERG , CNGA , CNGB3 , phenotype .

53. Achromatopsia achromatopsia. This question 02. I have a fiveyear-old student who Isuspect may have achromatopsia, but it has not been diagnosed. He http://med-aapos.bu.edu/publicinfo/store5/Achromatopsia8.05AM.html

Achromatopsia This question submitted by Teacher of Students with VI on 10/2/02. I have a five-year-old student who I suspect may have achromatopsia, but it has not been diagnosed. He is diagnosed with congenital nystagmus (moderate pendular) and wears glasses. No visual acuity has been determined by an eye specialist because the student is "uncooperative with acuity testing." He is very sensitive to light and seems to close his eyes when outdoors. He is very nearsighted and cannot distinguish between colors (he sometimes can tell the difference between items of 2 contrasting colors to sort them but rarely names the correct color of items). His mother reports that he gets severe migraines when he does not wear his prescription lenses. He does not have tinted lenses. I encourage him to wear sunglasses when outdoors, but he frequently forgets to bring them. He has much less difficulty with drop-offs and curbs when wearing the sunglasses (even though they are not prescription lenses). His mother states that he "cannot see when he is outside." My questions are: Is it possible that this child with nystagmus ALSO has achromatopsia? Is it likely that I will be able to get a diagnosis of this and what sorts of low vision aids might be appropriate?

54. Achromatopsia/3 achromatopsia/3. Not many eye care specialists have had direct experiencewith patients having any of the various types of achromatopsia. http://med-aapos.bu.edu/publicinfo/store1/Achromatopsia.39.33PM.html

Achromatopsia/3 This question submitted by Frances Futterman on 2/4/97. Not many eye care specialists have had direct experience with patients having any of the various types of achromatopsia. Helping to provide such professionals with information about this rare vision disorder is one of the goals of our network. Following is a copy of the comments that I have already sent to that parent and have posted to that discussion and which I want to be sure that you also have a chance to see. Thank you for your desire to help. Sincerely, Frances Futterman, facilitator of the Achromatopsia Network I appreciate the intention of helping that is evident in the messages that have been posted to the forum, but I feel that it is important to correct certain information that has been put forth. For example, Dr. Brown wrote the following: ³The term Œachromatopsia¹ is extremely specific. The 'a' means 'entirely without or completely lacking' and the 'chromatopsia' means 'color sense, retinal cones'. So if your child truly has achromatopsia then he has no CONES in his retina, which are the cells that detect color information and send it to the brain.² Various references were made in your forum to red tinted lenses for achromats. While there are many rod monochromats (the most common form of achromatopsia) who do like wearing red lenses, many others of us do not, for a variety of very good reasons. They are not for all achromats. Many of us prefer to obtain a dark brown tint for outdoors or dark amber or dark brown with a touch of red, etc. And ordinary frames that are available for infants, children, teens, or adults do not tend to meet the unusual needs that we have for light control. There are, however, a number of ways to achieve wraparound tinting, which is what we really need. Topics related to this subject are covered in our network publications.

55. Congenital Achromatopsia : A Guide For Professionals. Translate this page Un clin d'oeil vers VisuNews - Lecture des quotidiens en ligne. Congenital achromatopsia a guide for professionals. Futterman, Frances. Berkeley, Calif. http://typhlophile.com/ouvrages/r-0044.shtml

Passer menu Aller au fil de nouvelles Cette page renferme des scripts utilisant le JavaScript. Un clin d'oeil vers : Les Jeunes Voix, groupe des jeunes romands de la Fédération suisse des aveugles et malvoyants. Congenital achromatopsia : a guide for professionals. Futterman, Frances. Berkeley, Calif. : Resources for limited vision, 1995. 30 p. Consultation importante : Unification internationale du braille français. Accueil TyphloFil Actualité ... Écrivez-moi! Rechercher dans le site LaCriée Mots-clés: Trouver: Chaque mot Tous les mots L'expression Aide à la recherche L-4101 L.C. Ce texte provient de la publication Info-Doc l'Institut Nazareth et Louis-Braille Haut de la page. [Certifier Description Le Typhlophile webmestre@typhlophile.com Pour vos commentaires et suggestions.

56. Achromatopsia – Brain Damage Resulting In The Loss Of Memory Of achromatopsia – Brain damage resulting in the loss of memory of colour as wellas the ability to perceive colour, while still being able to perceive form and http://www.psybox.com/web_dictionary/Achromatopsia.htm

57. Acromatopsia Congenita Achromatopsia Congenital Bambi Translate this page Acromatopsia congenita achromatopsia congenital Associazione Acromati Italiani VicePresidente Elisabetta Luchetta Via 4 Novembre, 25 38073 Cavedine(TN) Tel e http://fastnet.it/enti/bambi/acromatopsia.htm

Acromatopsia congenita Achromatopsia congenital Associazione Acromati Italiani   Vice Presidente Elisabetta Luchetta Via 4 Novembre, 25 38073 Cavedine(TN) Tel e fax: 0461568435 Tel. 0461-569165 Cell. 333-4473568 e-mail giluche@tin.it e-mail elisabettaluchetta@libero.it ACROMATOPSIA CONGENITA Nome inglese: achromatopsia, congenital Frequenza (stime) 1persona su 33.000 negli USA, circa 2.000 persone in Italia ATTENZIONE: Le informazioni da noi fornite hanno lo scopo di essere uno strumento informativo per chi si interessa alle malattie genetiche o rare e di aiutare i pazienti a raggiungere un rapporto di consenso informato con il medico. In nessun caso possiamo fornire consulenze di tipo medico su casi specifici, e in nessun caso chi legge dovrà prendere decisioni solamente sulla base delle informazioni da noi fornite. E' necessario e consigliabile rivolgersi ad uno specialista che abbia familiarità con la malattia : solo con lui sarete in grado di prendere le decisioni appropriate. In nessun caso potremo essere responsabili di decisioni mediche prese sulla base del materiale da noi fornito. Che cos'è é l'acromatopsia congenita?

58. A DIFFERENTIAL DIAGNOSTIC APPROACH TO CONGENITAL ACHROMATOPSIA: APPLICATION IN T A DIFFERENTIAL DIAGNOSTIC APPROACH TO CONGENITAL achromatopsia APPLICATIONIN TWO CLINICAL CASES. This case was considered a complete achromatopsia. http://www.dog.org/1999/e-abstract99/512.html

97th DOG Annual Meeting 1999 A DIFFERENTIAL DIAGNOSTIC APPROACH TO CONGENITAL ACHROMATOPSIA: APPLICATION IN TWO CLINICAL CASES A. Farkas, K. Wenzel', R. Vamos, J. Gyory Purpose: To investigate the possibility of differential diagnosis of congenital achromatopsia through analysis of two cases. Patients and Methods: Clinical, psychophysical and electrophysiological examinations were carried out in two (31 years old male and 58 years old female) patients with achromatopsia.The clinical test battery comprised visual acuity, anterior segment and fundus examination. Psychophysical tests were color vision, spectral sensitivity, dark adaptation, perimetry and CFF. The electrophysiological test used was ERG. Results: The clinical examinations demonstrated classical signs of achromatopsia in both patients. The psychophysical examinations revealed a considerable difference in the spectral sensitivity curves of the two patients. The maximum of the spectral sensitivity curve was found at 507 nm in the first case, which corresponds to that of the rods. This case was considered a complete achromatopsia. The second case showed maximal spectral sensitivity at 527 nm, a value between that of the rods and the MWS cones. This case would appear to be an incomplete achromatopsia. Conclusions: Consideration of spectral sensitivity is essential in the differential diagnosis of patients with congenital achromatopsia and is suitable for differentiating complete and incomplete forms of the disease.

59. Achromatopsia Medical Information on achromatopsia. For whom is this information intended? Website www.viscotland.org.uk. Medical Information Document On achromatopsia. http://www.ssc.mhie.ac.uk/eyeconds/Achro.htm

60. Sensory Information Service Sensory Information Service. achromatopsia. achromatopsia or totalcolour blindness is caused by cone dysfunction in the retina. http://www.ssc.mhie.ac.uk/VPages/F6/V621.htm

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