Survey
* Your assessment is very important for improving the work of artificial intelligence, which forms the content of this project
Download 6070.pdf
Document related concepts
no text concepts found
Transcript
Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 6070 colobomas ocular Eponyms: Inheritance: COI coloboma iris-choroid-retina autosomal dominant genetic heterogeneity supposed autosomal recessive X-linked recessive Semeiological Ocular disorder, isolated defect. Colobomas multiple, optic atrophy, occasionally cataract. Synthesis: Group Sub group Signs: LABORATORY DATA chromosomal assignment chromosome 7q localization chromosome X localization gene, structural-functional anomalies gene analysis-DNA analysis MOPCB, gene chr.X SHH (SMMCI) (HPE3) (HLP3), gene chr.7q36 OCULAR DISORDERS choroidoretinal defects choroidal coloboma, retinal coloboma, macular coloboma, isolated ocular defects: vitreous/choroidoretinal/optic nerve changes corneal defects not including dystrophy microphthalmos (anteposterior globe diameter less than 20 mm, in adult), anophthalmos iris anomalies aniridia iris, coloboma pupillary membrane, persistence lens, defects cataract, congenital cataract, isolated defect cataract, no isolated defect cataract, unspecified type lens, coloboma optical nerve defects Bergmeister papilla megalopapilla, large optic disc optic atrophy optic nerve, coloboma visus defects myopia OTHERS inheritance inheritance, autosomal dominant inheritance, genetic heterogeneity inheritance, X-linked recessive PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by laboratory data foetal changes, recognized by ultrasound techniques prenatal diagnosis prenatal diagnosis, echographic prenatal diagnosis, molecular colobomas ocular Page 1 of 2 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database Super group: Super aggreg. FOETAL CHANGES foetal changes, recognized by laboratory data Aggregations: foetal changes, recognized by ultrasound techniques ISOLATED OCULAR DISORDERS isolated ocular defects: cataract, isolated defects isolated ocular defects: vitreous/choroidoretinal/optic nerve changes OTHER cataract, not isolated defect Differential diagnosis: Bibliography colobomas ocular 60 1725 28439 5100 6080 7660 27852 28729 15450 28732 7371 19190 19215 21970 Abruzzo-Erickson syndrome aniridia-microcornea-reabsorbed cataract Bateman-Maumenee ocular disease CHARGE syndrome colobomas ocular-cardiac defect syndrome Dinno syndrome Glaser syndrome lens, coloboma macular coloboma megalopapilla optic atrophy 3-4 optic disc pits optic nerve coloboma, familial pupil egg shaped OMIM ID: 120200 OMIM ID: 300345 Am. J. Med. Genet. 101:,114-119,2001 Birth Defects Encyclopedia Atlas of Ophthalmology- Images and Tables. Ed.Richard K.Parrish II, 1999 Annuario Orphanet-Italia delle Malattie Rare 2005, pag. 198 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.31803193,2007 Page 2 of 2
