21. Targeted Disruption Of Exons 1 To 6 Of The Fanconi Anemia Group A 1 to 6 of the Fanconi Anemia group A gene leads to growth retardation, strainspecific microphthalmia, meiotic defects and primordial germ http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

22. Lenz Microphthalmia Syndrome Definition - Medical Dictionary Definitions Of Popu Online Medical Dictionary and glossary with medical definitions. http://www.medterms.com/script/main/art.asp?articlekey=23118

23. Microphthalmia-A Singular View The author explains how microphthalmia has affected her son. http://www.angelfire.com/ok/eyediseases

setAdGroup('67.18.104.18'); var cm_role = "live" var cm_host = "angelfire.lycos.com" var cm_taxid = "/memberembedded" Search: Lycos Angelfire 40 Yr Old Virgin Share This Page Report Abuse Edit your Site ... Next A Singular View My name is Kelly. I am the mother of two wonderful children. This website is about my son Steven... Steven age 9 months He was born with microphthalmia (small eye), partial aniridia (absence of iris) and retinal coloboma (closure defects). These conditions left him unilaterally sighted. I'm making this website in the hopes of connecting with other people who are unilaterally sighted, have family members like this, or people with these eye conditions. Five and a half years ago all I knew about Microphthalmia was that it meant small eye. I've been online for several years now and have made many eye friends. There is such a great comfort in knowing that there are other people dealing with the same situations that you are dealing with. That there are people who have handled what you're about to go through, and being able to help someone deal with something that you have already been through. It was the love and support of my family and friends that helped me deal with what I had once thought was a nightmare. In particular, my mother, who would think nothing of dropping everything and driving two hours, sometimes in the middle of the night, when I needed her. I have learned that the love of a family can help you deal with anything.

24. Microphthalmia-associated Transcription Factor Interacts With Your browser does not support frames. Click here to view the unframed reprint. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

25. Anophthalmia And Microphthalmia Anophthalmia and microphthalmia eye disorder, eye conformers, prosthetic eyes. http://www.caridon.com/anophthalmia-and-microphthalmia.html

anophthalmia and microphthalmia Anophthalmia and microphthalmia are terms that are often used interchangeably. Microphthalmia is a disorder in which one or both eyes are abnormally small, while anophthalmia is the absence of one or both eyes. These rare disorders develop during pregnancy and can be associated with other birth defects. Causes of anophthalmia and microphthalmia Causes of these conditions may include genetic mutations and abnormal chromosomes. Researchers also believe that environmental factors, such as exposure to X-rays, chemicals, drugs, pesticides, toxins, radiation, or viruses, increase the risk of anophthalmia and microphthalmia, but research is not conclusive. Sometimes the cause in an individual patient cannot be determined. Treatment of Anophthalmia and Microphthalmia There is no treatment for severe anophthalmia or microphthalmia that will create a new eye or restore vision. However, some less severe forms of microphthalmia may benefit from medical or surgical treatments. In almost all cases improvements to a child's appearance are possible. Children can be fitted for a prosthetic (artificial) eye for cosmetic purposes and to promote socket growth. A newborn with anophthalmia or microphthalmia will need to visit several eye care professionals, including those who specialize in pediatrics, vitreoretinal disease, orbital and oculoplastic surgery, ophthalmic genetics, and prosthetic devices for the eye.

26. Germ Cell-Specific Expression Of Microphthalmia-Associated Germ CellSpecific Expression of microphthalmia-Associated Transcription Factor mRNA in Mouse Testis Hideo Saito1 2 , Kazuhisa Takeda1 http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

27. Clinical Trial: Molecular Analysis Of Microphthalmia/Anophthalmia Patients with microphthalmia or anophthalmia with mental retardation may be In addition, families with Xlinked microphthalmia/anophthalmia with http://www.clinicaltrials.gov/ct/gui/show/NCT00011843

Home Search Browse Resources ... About Molecular Analysis of Microphthalmia/Anophthalmia This study is currently recruiting patients. Verified by National Institutes of Health Clinical Center (CC) February 2, 2005 Sponsored by: National Human Genome Research Institute (NHGRI) Information provided by: National Institutes of Health Clinical Center (CC) ClinicalTrials.gov Identifier: Purpose This study will try to learn more about the genetic cause and symptoms of microphthalmia (small eyes) or anophthalmia (absence of one or both eyes). Patients with microphthalmia or anophthalmia with mental retardation may be eligible for this study. Patients' parents and siblings will also be included for genetic studies. Patients may participate in both the clinical and laboratory parts of the study or just the laboratory part, as described below: Laboratory The laboratory study consists of DNA analysis to determine the genetic cause of microphthalmia/anophthalmia. The DNA sample is obtained using one of the following methods: -Blood draw - for young children, a numbing cream is applied to the skin before the needlestick to decrease the pain

28. Requested Page Cannot Be Found microphthalmiamicrophthalmia, Anophthalmia and other related eye disorders Lenz microphthalmiaSyndrome Symptoms and SelfAssessment Test - Lenz microphthalmia http://www.peteducation.com/cats_dogs/microphthalmia.htm

29. Welcome To The Microphthalmia/Anophthalmia Message Board Welcome to the microphthalmia/Anophthalmia Message Board. http://amazingforums.com/forum/KELLYBROOK/1.html

Author Topic: Welcome Kelly Brooks (Moderator) posted 2/24/02 5:56 AM Hi Everybody,I hope that this is going to be a place where people can contact other people dealing with similiar situations. JW posted 3/7/02 5:03 AM Hello!! It has been almost a year since I have visited this site. My daughter MacKenna was born with microphthalmus and I was looking in this area last year for some advice on how to deal with: what at the time seemed like such a horrible ordeal: and now realizing that it was just a blessing in disguise. All the E-mail responses I received from people helped a lot. My daughter is now 13 months old and doing great she has a prosthetic eye that is absolutely perfect. If you did not know her you would not she had microphthalmia. Freddy posted 4/28/02 1:36 AM hi my daughter was diagonosed with microphthamus of her left eye...im very concerned and worried any help Sharon posted 2/5/03 9:00 PM Hi Everybody: My daughter was born almost a year ago with micropthalmia of the right eye and coloboma of the left. She has a prosthetic eye and it looks wonderful! I am just wondering if anyone else out there has had any genetic testing done and, if so, what were the results? Do your children have siblings and, if so, were they also affected with the same condition? We have recently had genetic testing done and it was inconclusive. We only have one child and we have been told that it is possible that one of us carries the "defective" gene that causes this or that we do not at all. At any rate, the doctors have told us that any other children have a to 50% chance of being affected with either micropthalmia or coloboma or both. We have now also been told that, should the retina of the left eye detach, it is possible that it is not correctable by surgery.

30. Welcome To The Microphthalmia/Anophthalmia Message Board Welcome to the microphthalmia/Anophthalmia Message Board. http://amazingforums.com/forum/KELLYBROOK/4.html

Author Topic: Bilateral microphthalmia Michelle posted 3/28/03 1:58 AM Michelle Jacalyn posted 4/4/03 0:58 AM Hi I just wanted to say hi and tell you taht my parents went through a lot of teh same battles it sounds like you have had. Please e-mail me anytime I would love to chat. JacalynUW@hotmail.com Jacalyn Hosey Kelly posted 4/5/03 8:45 PM Hi Michelle, It's nice to meet you! That is such wonderful news, and I agree, a miracle. No matter how bad a situation seems, I think that there is always hope. Please keep us updated on your son's progress. Amy posted 2/22/04 4:33 AM linda bruel posted 8/30/05 10:04 PM [This message has been edited on 09/03/2005] Back To Post New Topic

31. Microphthalmia And Anophthalmia Definition. Anophthalmia is the complete absence of an eye. microphthalmia is aneye that has an abnormal smallness. http://www.healthatoz.com/healthatoz/Atoz/ency/microphthalmia_and_anophthalmia.j

32. Www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?989 microphthalmia definition of microphthalmia by the Free Online Definition of microphthalmia in the Online Dictionary. Meaning of microphthalmia.What does microphthalmia mean? microphthalmia synonyms, microphthalmia http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?989

33. Microphthalmia - Definition Of Microphthalmia By The Free Online Dictionary, The microphthalmia Patient UKThey have not been specifically checked to see if microphthalmia is included,but these large, mainly US, sites are fairly comprehensive. http://www.thefreedictionary.com/microphthalmia

Domain='thefreedictionary.com' word='Microphthalmia' Your help is needed: American Red Cross The Salvation Army join mailing list webmaster tools Word (phrase): Word Starts with Ends with Definition subscription: Dictionary/ thesaurus Computing dictionary Medical dictionary Legal dictionary Financial dictionary Acronyms Columbia encyclopedia Wikipedia encyclopedia Hutchinson encyclopedia Microphthalmia Also found in: Medical Wikipedia 0.03 sec. Page tools Printer friendly Cite / link Email Feedback n. An unnatural smallness of the eyes, occurring as the result of disease or of imperfect development. Mentioned in References in classic literature No references found No references found Dictionary/thesaurus browser Full browser microphonic microphonics microphoning microphonous ... microphotometer Microphthalmia Microphyllous microphysics Microphytal microphyte ... Microphotonics Microphthalmia Microphyll Microphyllous Microphylum microphysics ... Micropower broadcasting Word (phrase): Word Starts with Ends with Definition Free Tools: For surfers: Browser extension Word of the Day NEW!

34. Physician: Microphthalmia - Physician microphthalmia. There is an orphan available with a condition calledMICROOPHTHALMIA. She is 18mos old and is blind in one eye. http://international.adoption.com/foreign/ia-doc-microophthalmia.html

@import url(/uni/adoption.com/rev6/styles/common.css); @import url(/uni/adoption.com/rev6/styles/screen.css); @import url(/uni/adoption.com/rev6/styles/tabs.css); @import url(/uni/adoption.com/rev6/styles/nav.css); Physician: Microphthalmia There is an orphan available with a condition called MICROOPHTHALMIA. She is 18mos old and is blind in one eye. Can you tell me more about this condition? Can anything be done to regain her vision? Is this condition linked with a syndrome that may not be showing yet? Micropthalmia is a disorder of the development of the eye which is akin to not having developed an eye at all. Midline defects such as this are often associated with other abnormalities since the development of the eye begins very early in development. In other words something that effects the development of the eye seems to effect the development of a lot of other things in the body. This disorder can be seen as part of fetal alcohol syndrome but in my review of the literature it seems it may be most commonly associated with some genetic/prenatal insult. Without other information it is impossible to say what is the prognosis for this unfortunate child because this may depend on other factors that may only be known with time. It may or may not be associated with other abnormalities, some of which are severe.

35. Accessing Article Lenz microphthalmia is inherited in an Xlinked recessive pattern and comprises Clinical details of individuals with Lenz microphthalmia and OFCD http://www.nature.com/uidfinder/10.1038/ng1321

NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? Most users gain access to full text articles through a site license. This is available to institutional customers only. For further information visit the Librarian Gateway. Full-text articles are also available through a number of other options: I want to purchase this article Select this option to view this article immediately and access it for seven days. Price: US$18* In order to purchase this article you must be a registered user. Click here to register or log in above. I want to subscribe to Nature Genetics Select this option to purchase a personal subscription. I am already a personal subscriber to Nature Genetics Personal subscribers to Nature Genetics can view this article. To do this you need to associate your subscription with your registration via the My Account page. If you already have an active online subscription, log in via the login box in the top right-hand corner of this page. You can request the document from a number of document delivery services: British Library Document Supply Centre CISTI Canadian Institute for Scientific and Technical Information Infotrieve Thomson ISI Document Delivery You can also request the document from your local library through interlibrary loan services.

36. Waardenburg Syndrome Type 2 Caused By Mutations In The Human Microphthalmia (MIT Mutations at the mouse microphthalmia locus are associated with defects in a Cloning of MITF, the human homolog of the mouse microphthalmia gene and http://www.nature.com/doifinder/10.1038/ng1194-251

@import "/ng/style.css"; NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Article Nature Genetics doi:10.1038/ng1194-251 Waardenburg syndrome type 2 caused by mutations in the human microphthalmia ( MITF ) gene Mayada Tassabehji , Valeria E. Newton Department of Medical Genetics, St. Mary's Hospital, Manchester M13 0JH, UK Centre for Audiology, University of Manchester, Manchester M13 9PL, UK Correspondence should be addressed to A.P.R. MITF , the human homologue of the mouse microphthalmia ( mi mi mutations show reduced pigmentation of the eyes and coat, and with some alleles, microphthalmia, hearing loss, osteopetrosis and mast cell defects. Here we show that affected individuals in two WS2 families have mutations affecting splice sites in the MITF gene. REFERENCES Waardenburg, P.J. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am. J. hum. Genet.

37. Microphthalmia Anophthalmia and microphthalmia are often used interchangeably. microphthalmia isa disorder in which one or both eyes are abnormally small, http://www.akitaclub.org/health/Microphthalmia.htm

Home Up VMDR_2002.pdf Akita Health Resource ... Health Links [ Microphthalmia ] Polyarthritis Retinal Dysplasia A Unique Juvenile When Worlds Collide MICROPHTHALMIA DOES AFFECT OUR BREED Taken from the AKC Akita Standard Eyes-Dark brown, small deep-set and triangular in shape. Home Breaking News! Disease What is Micro? Anophthalmia and microphthalmia are often used interchangeably. Microphthalmia is a disorder in which one or both eyes are abnormally small, while anophthalmia is the absence of one or both eyes. These rare disorders develop during pregnancy and can be associated with other birth defects. Microphthalmia and multiple congenital ocular anomalies: Microphthalmia is a birth defect in which one or both eyes are smaller than normal , leading to a restricted field of vision. Microphthalmic eyes are considered to be a fault by many breed clubs. While microphthalmia itself is not particularly harmful, it is often found associated with more severe eye defects such as coloboma, retinal dysplasia, and cataracts. Photos of Microphthalmic Canines Current Research Studies: NCBI - Current Research Project MSU - Instructions for Obtaining Cheek Swabs It is imperative that breeders and owners alike participate in these studies with affected dogs, sires and dams of affected dogs, siblings of affected dogs and dogs that may be genetically clear! With submissions to the research laboratories, we can establish DNA markers for many disorders genetically passed on in this breed and ultimately breed healthier Akitas! Research studies are

38. Microphthalmia In Cavalier King Charles Spaniel Health and severe genetic diseases of the Cavalier King Charles Spaniel;microphthalmia. http://www.cavalierhealth.org/microphthalmia.htm

Cavalier Health org serving the cavalier King charles spaniel HOME OVERVIEW ABOUT US BREEDERS ... HEALTH Clinics Updated: September 8, 2005 INSIDE TOPICS Breeders Questions for breeders Breeders' excuses Blood platelets ... Clinics Updated! Congestive heart Failure Corneal dystrophy Curly coat syndrome Cushing's disease ... Vision disorders CavalierHealth.org provides this information for your education only. Advice or suggestions found on this website are not meant to replace professional veterinary care. Consult your veterinarian before attempting to medically treat your dog or changing your dog's medical treatment. Microphthalmia in Cavaliers: Genetically Caused, Abnormally Small Eyeb all Microphthalmia is an inherited defect which is particularly common in the Cavalier King Charles Spaniel. One or both of the dog's eyes is smaller than normal, resulting in restricted vision and possible blindness. There is no treatment for microphthalmia. All CKCSs should be examined at least annually by a board certified veterinary ophthalmologist. They are listed on this webpage of the website of the American College of Veterinary Ophthalmologists (ACVO): www.acvo.org/locate.htm Breeders' Responsibilities The Genetics Committee of the ACVO recommends that CKCSs affected with microphthalmia not be bred.

39. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Eye_Disorders/Micr Books Gale Encyclopedia of Medicine microphthalmia and anophthalmia A Singular View The author explains how microphthalmia has affected her son. 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 ... Eye Disorders : Microphthalmia Subtopics See Also: Health: Conditions and Diseases: Chronic Illness Search Google: Microphthalmia News Books Links ... Protein Amplification In Melanoma Is Possible Drug Target (July 12, 2005) full story [ More news about Microphthalmia by: Laith Farid Gulli M.D. See Larger Image Amazon.com's Price: Prices subject to change. Third Party New Price: $2.30 Availability: Available for download now Manufacturer: Thomson Gale Editorial Review: Book Description: The article is excerpted from Gale Encyclopedia of Medicine. Consult the second edition of this authoritative, comprehensive, in-depth medical guide for information on more than 1,700 medical topics in language accessible to adult laypersons. Presented in a single alphabetical sequence, articles range in length from one or two paragraphs for minor topics, to several pages or more for major topics. Disease/disorder articles typically cover definition; description; causes and symptoms; diagnosis; treatments; prevention; and more. Test/treatment articles typically cover definition; purposes; precautions; preparation; risks; normal and abnormal results; and much more. This second edition includes more than 200 new entries, 300 updated entries, approximately 650 color images and illustrations, and a comprehensive subject index. New features include biographical and historical sidebars throughout the text.

40. Microphthalmia - Eye Conditions - Neville Clarence Technologies Suppliers of an extensive range of adaptive technology products. Our servicesinclude product engineering, installation and maintenance, training, http://www.nctec.co.za/eye_conditions/microphthalmia.html

Eye Condition Fact Sheets What is Microphthalmia? Microphthalmia is commonly called 'small eye syndrome'. Most children born with this condition are affected in one eye. The eye is obviously reduced in size, and according to statistics, is blind with no vision at all. However it has been known for children who have bilateral microphthalmia to have some vision. It is suspected that a fungicide, "Benomyl", which is still used on fruit and vegetable crops has been linked to cases of micro and anophthalmia. It is yet to be conclusively determined is whether the chemical interferes with the development of the eyes in children whose mothers are exposed to the chemical during pregnancy. Where can I get more advice? If you need advice on treatment options it is best to speak to an ophthalmologist (eye surgeon) rather than your regular family doctor or local optometrist. For information on electronic optical aids, including special software to assist with computer use, call NCTec at: (012) 346-3464. If calling from outside South Africa dial +27 12 346-3464.

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