Bilateral coloboma of lens in Marfan's syndrome. 1985

A S Mehrotra, and N Solanki, and K K Sabharwal

UI MeSH Term Description Entries
D007908 Lens, Crystalline A transparent, biconvex structure of the EYE, enclosed in a capsule and situated behind the IRIS and in front of the vitreous humor (VITREOUS BODY). It is slightly overlapped at its margin by the ciliary processes. Adaptation by the CILIARY BODY is crucial for OCULAR ACCOMMODATION. Eye Lens,Lens, Eye,Crystalline Lens
D008297 Male Males
D008382 Marfan Syndrome An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2. Marfan Like Connective Tissue Disorder,Marfan Syndrome Type 1,Marfan Syndrome Type 2,Marfan Syndrome, Type II,Marfan Syndrome, Type I,Marfan's Syndrome,Marfans Syndrome
D003103 Coloboma Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation. Coloboma Of Iris, Choroid, And Retina,Coloboma, Ocular,Coloboma, Uveoretinal,Ocular Coloboma,Uveoretinal Coloboma,Colobomas,Colobomas, Ocular,Colobomas, Uveoretinal,Ocular Colobomas,Uveoretinal Colobomas
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults

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