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coloboma - congenital defect of one of the structures of the eye such as iris, retina, choroid or optic disk Definition for coloboma some common symptoms defect in iris of eye defects in eye tissue some related diagnoses 1 - 6 of 6 diagnoses linear sebaceous nevus syndrome coloboma of iris-anal atresia syndrome Rieger Syndrome basal-cell nevus syndrome Sly Syndrome XXXXX Syndrome   more do i have 'coloboma'? In addition the following diagnostic tests might be need to help verify the diagnosis: diagnostic test search results for 'coloboma' NO RESULTS coloboma and diagnostic tests therapeutic procedures for 'coloboma'? Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for coloboma: therapeutic procedure search results for 'coloboma' 1 - 1 of 1 therapeutic procedures rankings are computer generated. please consult your health care provider. examination under anesthesia coloboma and examination under anesthesia medications search results for 'coloboma' rankings are computer generated. please consult your health care provider. web search results for coloboma Web (All)  |  Treatment  |  Drugs  |  Tests  |  Research  |  Diet Results 1 - 50 - coloboma Coloboma - Wikipedia, the free encyclopedia A coloboma (from the Greek koloboma, meaning defect,[1] and also part of the rare Cat eye ... The effects a coloboma has on the vision can be mild or more severe ... http://en.wikipedia.org/wiki/Coloboma   en.wikipedia.org - summary Renal coloboma syndrome - Genetics Home Reference Renal coloboma syndrome (also known as papillorenal syndrome) is a condition that ... The prevalence of renal coloboma syndrome is unknown; at least 60 ... http://ghr.nlm.nih.gov/condition=renalcolobomasyndrome   ghr.nlm.nih.gov - summary Renal Coloboma Syndrome - GeneReviews - NCBI Bookshelf PAX2 is the only gene known to be associated with renal coloboma syndrome. ... Renal coloboma syndrome is inherited in an autosomal dominant manner. ... http://www.ncbi.nlm.nih.gov/books/NBK1451/   www.ncbi.nlm.nih.gov - summary Coloboma of the iris: MedlinePlus Medical Encyclopedia Coloboma of the iris is a hole or defect of the iris of the eye. ... Coloboma of the iris may look like a black, round hole located in or next to the colored part of the eye ... http://www.nlm.nih.gov/medlineplus/ency/article/003318.htm   www.nlm.nih.gov - summary Coloboma - Glossary Entry - Genetics Home Reference ocular coloboma. Definition(s) Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal ... http://ghr.nlm.nih.gov/glossary=coloboma   ghr.nlm.nih.gov - summary Hereditary macular coloboma. Sorsby A. CONGENITAL COLOBOMA OF THE MACULA: TOGETHER WITH AN ACCOUNT OF THE FAMILIAL ... CONGENITAL COLOBOMA OF THE MACULA: TOGETHER WITH AN ACCOUNT OF THE ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1468870/   www.ncbi.nlm.nih.gov - summary Coloboma of the iris: MedlinePlus Medical Encyclopedia Image A coloboma is a defect in the iris of the eye. It can appear as a black notch of varying depth at the edge of the pupil, giving the pupil an irregular shape. ... http://www.nlm.nih.gov/medlineplus/ency/imagepages/8750.htm   www.nlm.nih.gov - summary The familial contribution to non-syndromic ocular coloboma in ... The familial contribution to non-syndromic ocular coloboma in south India ... Ocular coloboma can be associated with other systemic abnormalities in a ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1771576/   www.ncbi.nlm.nih.gov - summary Optic disc duplication or coloboma? Optic disc duplication or coloboma? N Islam,1,2,3 J Best,2,4 J S ... Results: All 11 cases represented peripapillary chorioretinal coloboma, some of which lie superior to the ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772490/   www.ncbi.nlm.nih.gov - summary Renal coloboma syndrome - References - Genetics Home Reference These sources were used to develop the Genetics Home Reference condition summary on renal coloboma syndrome. Amiel J, Audollent S, Joly D, Dureau ... http://ghr.nlm.nih.gov/condition/renal-coloboma-syndrome/show/References   ghr.nlm.nih.gov - summary Coloboma del iris: MedlinePlus enciclopedia médica Un coloboma pequeño, especialmente si no está adherido a la pupila, puede hacer que una imagen secundaria se enfoque en la parte posterior del ojo, ocasionando: ... http://www.nlm.nih.gov/medlineplus/spanish/ency/article/003318.htm   www.nlm.nih.gov - summary MACULAR COLOBOMA: HISTOLOGICAL REPORT MACULAR COLOBOMA: HISTOLOGICAL REPORT. Arnold Sorsby and John O. Oliver. London. This ... CONGENITAL COLOBOMA OF THE MACULA: TOGETHER WITH AN ACCOUNT OF THE ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1143139/   www.ncbi.nlm.nih.gov - summary Ocular Coloboma Ocular coloboma and dorsoventral neuroretinal patterning defects in Lrp6 mutant ... Ocular Coloboma: Report of Cases Ocular Coloboma: Report of Cases ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1761296/   www.ncbi.nlm.nih.gov - summary Abnormal latent inhibition and impulsivity in coloboma mice ... Abnormal latent inhibition and impulsivity in coloboma mice, a model of ADHD ... The coloboma mouse model of ADHD exhibits profound hyperactivity. ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1761697/   www.ncbi.nlm.nih.gov - summary ATYPICAL COLOBOMA OF THE IRIS ReviewA 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature. ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC513141/   www.ncbi.nlm.nih.gov - summary Congenital upper eyelid coloboma and cryptophthalmos. PURPOSE: To discuss the relation between congenital upper eyelid coloboma and cryptophthalmos and to present a new grading for both conditions. ... http://www.ncbi.nlm.nih.gov/pubmed/12352825   www.ncbi.nlm.nih.gov - summary Classification of microphthalmos and coloboma. A new classification of microphthalmos and coloboma is proposed to bring order to the complexity of clinical and aetiological heterogeneity of these conditions. ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1016495/   www.ncbi.nlm.nih.gov - summary Uveal colobomata and Klinefelter syndrome. François J, Leuven MT, Gombault P. Uveal coloboma and true Klinefelter syndrome. ... François J, Leuven MT, Gombault P. Uveal coloboma and true Klinefelter syndrome. ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1042789/   www.ncbi.nlm.nih.gov - summary Repair of Bilateral Upper Eyelid Colobomas in Infants The initial evaluation of an upper eyelid coloboma consists of measuring the size of the ... the flap laterally to the coloboma edge, the surgeon must trim the ... http://www.aao.org/aao/publications/eyenet/201001/pearls.cfm   www.aao.org - summary Left Macular Coloboma [Macular coloboma and alternating diffuse chorio-retinal dysplasia] ... Macular coloboma-like lesions and pigment abnormalities as complications of cryotherapy ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2181166/   www.ncbi.nlm.nih.gov - summary Anophthalmos, microphthalmos, and typical coloboma in the ... Anophthalmos, microphthalmos, and typical coloboma in the United Kingdom: a prospective study of incidence and risk. Shah SP, Taylor AE, Sowden ... http://www.ncbi.nlm.nih.gov/pubmed/20574025   www.ncbi.nlm.nih.gov - summary WebMD Health A-Z - Find reliable health and medical ... Find a comprehensive index of trusted health and medical information. It is your ultimate guide to reliable ... Coloboma, Heart, Atresia of the Choanae, ... http://www.webmd.com/a-to-z-guides/health-topics/ck-co.htm   www.webmd.com - summary CHARGE syndrome - Genetics Home Reference CHARGE stands for coloboma, heart defect, atresia choanae (also known as choanal ... A coloboma may be present in one or both eyes and can affect a person's vision, ... http://ghr.nlm.nih.gov/condition=chargesyndrome   ghr.nlm.nih.gov - summary Talk:Coloboma - Wikipedia, the free encyclopedia Also, I was thinking that this article could use a photograph of a coloboma. ... The coloboma is an integral part of the parents' exhaustive campaign ... http://en.wikipedia.org/wiki/Talk:Coloboma   en.wikipedia.org - summary Colobomatous cupping of the optic disc. BILATERAL PARTIAL COLOBOMA OF THE OPTIC NERVE. Br J Ophthalmol. 1946 Nov;30(11):692?696. ... Magnus John A. BILATERAL PARTIAL COLOBOMA OF THE OPTIC NERVE. ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1208384/   www.ncbi.nlm.nih.gov - summary STRUCTURAL ORGANIZATION OF CHOROIDAL COLOBOMAS OF YOUNG AND ... AGE AT FIRST PRESENTATION OF PATIENTS WITH COLOBOMA AND RETINAL DETACHMENT ... They also found "retinal breaks within the rudimentary retina of the coloboma. ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1447584/   www.ncbi.nlm.nih.gov - summary Bilateral macular coloboma and pigmented paravenous ... Bilateral macular coloboma and pigmented paravenous retinochoroidal atrophy. ... A patient had bilateral macular coloboma with aggregations of pigment clumps located ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC504242/   www.ncbi.nlm.nih.gov - summary Miller syndrome - Genetics Home Reference Miller syndrome is a rare condition that mainly affects the development of the ... is exposed (ectropion), and a notch in the lower eyelids called a coloboma. ... http://ghr.nlm.nih.gov/condition/miller-syndrome   ghr.nlm.nih.gov - summary Iris coloboma, ptosis, hypertelorism, and mental retardation ... To sibs and an unrelated single patient have a combination of iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation. ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1015421/   www.ncbi.nlm.nih.gov - summary Morning Rounds: The Case of the Patient Who Had Cat Eyes It includes trauma, Marfan's syndrome, homocystinuria, hyperlysinemia, aniridia, iris coloboma, simple ectopia lentis and ectopia lentis et pupillae. ... http://www.aao.org/publications/eyenet/200504/am_rounds.cfm   www.aao.org - summary Iris coloboma, ptosis, hypertelorism, and mental retardation. Iris coloboma, ptosis, hypertelorism, and mental retardation: ... ReviewIris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1015546/   www.ncbi.nlm.nih.gov - summary Systemic associations of uveal coloboma. Systemic associations of uveal coloboma. P M James, A G Karseras, and ... TOWER P. Coloboma of lower lid and choroid, with facial defects and deformity of hand and ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1215057/   www.ncbi.nlm.nih.gov - summary Focal dermal hypoplasia - Genetics Home Reference Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. ... in a gap or split in these structures, which is called a coloboma. ... http://ghr.nlm.nih.gov/condition/focal-dermal-hypoplasia   ghr.nlm.nih.gov - summary Ocular coloboma and dorsoventral neuroretinal patterning ... Ocular coloboma and dorsoventral neuroretinal patterning defects in Lrp6 mutant eyes. ... Coloboma, an ocular birth defect seen in humans and other species, is ... http://www.ncbi.nlm.nih.gov/pubmed/18985738   www.ncbi.nlm.nih.gov - summary PAX2 - paired box 2 - Genetics Home Reference renal coloboma syndrome - caused by mutations in the PAX2 gene ... embryonic development, causing the signs and symptoms of renal coloboma syndrome. ... http://ghr.nlm.nih.gov/gene/PAX2   ghr.nlm.nih.gov - summary Extrapapillary Coloboma Extrapapillary Coloboma. Ralph I. Lloyd. Full text. Full text is available as a scanned copy ... Sorsby Arnold, Oliver John O. MACULAR COLOBOMA: HISTOLOGICAL REPORT. ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1315055/   www.ncbi.nlm.nih.gov - summary Congenital coloboma in a IIama Congenital coloboma in a IIama. JoAnn C.L. Schuh, James G. Ferguson, ... Unilateral giant coloboma of the upper eyelid associated with other congenital anomalies ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1480992/   www.ncbi.nlm.nih.gov - summary Coloboma of the optic nerve entrance. COLOBOMA OF THE OPTIC DISK MISTAKEN CLINICALLY FOR RETINOBLASTOMA. ... Crampton George S. Two Cases of Binocular Coloboma of the Optic Nerve in the Same Family. ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC506308/   www.ncbi.nlm.nih.gov - summary Aicardi syndrome - Genetics Home Reference Aicardi syndrome is a disorder that occurs almost exclusively in ... (microphthalmia) or a gap or hole (coloboma) in the optic nerve, a structure that carries ... http://ghr.nlm.nih.gov/condition=aicardi-syndrome   ghr.nlm.nih.gov - summary Choroidal neovascularization associated with coloboma of the ... Choroidal neovascularization associated with coloboma of the choroid: a series of three ... We describe three cases of coloboma choroid where there was loss of ... http://www.ncbi.nlm.nih.gov/pubmed/21350286   www.ncbi.nlm.nih.gov - summary Partial coloboma of the limbus. Partial coloboma of the limbus. Singh D, Singh M, Singh A. PMID: ... Types: Case Reports. MeSH Terms. Adolescent. Coloboma* Cornea/abnormalities* Female. Humans ... http://www.ncbi.nlm.nih.gov/pubmed/711272   www.ncbi.nlm.nih.gov - summary CHARGE syndrome - Wikipedia, the free encyclopedia C - Coloboma of the eye, central nervous system anomalies. H - Heart ... Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: ... http://en.wikipedia.org/wiki/CHARGE_syndrome   en.wikipedia.org - summary Uveal coloboma and true Klinefelter syndrome. Syndrome of Coloboma with Multiple Congenital Abnormalities in Infancy. ... ANGELMAN H. Syndrome of coloboma with multiple congenital abnormalities in ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1468893/   www.ncbi.nlm.nih.gov - summary Coloboma with Multiple Congenital Anomalies Full text is available as a scanned copy of the original print version. ... Coloboma with Multiple Congenital Anomalies Coloboma with Multiple Congenital Anomalies ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1954524/   www.ncbi.nlm.nih.gov - summary Coloboma with Multiple Congenital Anomalies Coloboma with Multiple Congenital Anomalies. J. H. Edwards, R. B. Young, and H. V. L. ... Coloboma with Multiple Congenital Anomalies Coloboma with Multiple Congenital ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1969514/   www.ncbi.nlm.nih.gov - summary Optical Coherence Tomographic Finding in a Case of Macular ... Optical Coherence Tomographic Finding in a Case of Macular Coloboma ... The OCT can be beneficial to confirm the diagnosis of macular coloboma. ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2629682/   www.ncbi.nlm.nih.gov - summary Papillorenal syndrome - Wikipedia, the free encyclopedia Papillorenal syndrome, also called Renal-coloboma syndrome or isolated renal hypoplasia, ... Renal-coloboma syndrome: Prenatal detection and clinical spectrum in a large family" ... http://en.wikipedia.org/wiki/Papillorenal_syndrome   en.wikipedia.org - summary Mutational screening of 10 genes in Chinese patients with ... Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma ... Microphthalmia and coloboma may be isolated or syndromic with the ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2802294/   www.ncbi.nlm.nih.gov - summary Lenz microphthalmia syndrome - Genetics Home Reference Lenz microphthalmia syndrome is a condition characterized by abnormal ... in structures that make up the eye (coloboma), and a higher risk of an eye disease called ... http://ghr.nlm.nih.gov/condition/lenz-microphthalmia-syndrome   ghr.nlm.nih.gov - summary PAX2 - References - Genetics Home Reference Gene Review: Renal Coloboma Syndrome. Muratovska A, Zhou C, He S, Goodyer P, Eccles MR. Paired-Box genes are frequently expressed in cancer and ... http://ghr.nlm.nih.gov/gene/PAX2/show/References   ghr.nlm.nih.gov - summary show more 1  2