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583 Possible Causes for Isolated Ectopia Lentis

  • Ectopia Lentis

    Isolated ectopia lentis usually becomes apparent in childhood. The lens may drift further off-center over time. Vision problems are common in isolated ectopia lentis.[ghr.nlm.nih.gov] Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.[ebi.ac.uk] Mutations in the FBN1 or ADAMTSL4 gene cause isolated ectopia lentis.[ghr.nlm.nih.gov]

  • Isolated Ectopia Lentis

    Isolated ectopia lentis usually becomes apparent in childhood. The lens may drift further off-center over time. Vision problems are common in isolated ectopia lentis .[ghr.nlm.nih.gov] Screening of ADAMTSL4 should be considered in all patients with isolated ectopia lentis, with or without family history.[ncbi.nlm.nih.gov] PURPOSE: To examine the fibrillin-1 (FBN1) gene for mutations in members of a Chinese family with isolated ectopia lentis.[ncbi.nlm.nih.gov]

  • Lens Dislocation

    CONCLUSIONS: Late-onset isolated ectopia lentis with secondary glaucoma is consistent with a novel mutation in FBN1.[ncbi.nlm.nih.gov] ) ectopia lentis primary ocular disorders aniridia intra-ocular tumors infective conditions, e.g. syphilis Marfan syndrome, homocystinuria and Weill-Marchesania account for[radiopaedia.org] Ectopia lentis can be inherited as an isolated condition, usually autosomal dominant (simple ectopia lentis).[visualdx.com]

  • Marfan Syndrome

    Mutations in the FBN1 gene have also been observed in families with isolated ectopia lentis and MASS syndrome (myopia, mitral valve prolapse, borderline/non-progressive aortic[genedx.com] ectopia lentis.[emedicine.com] Marfan-like disorders, such as the MASS (myopia, mitral valve prolapse, borderline and nonprogressive aortic enlargement, nonspecific skin and skeletal findings) phenotype and isolated[emedicine.com]

  • Marchesani-Weill Syndrome

    Identification of a novel FBN1 mutation in a Chinese family with isolated ectopia lentis. Mol Vis 17:3481-5,2011.[pubs.sciepub.com] "A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis."[eyewiki.aao.org] lentis Familial Aortic Aneurysm and Dissection (FTADD) Familial ectopia lentis FBN1 FBN1 genetic Fibrillin Fibrillin1 Isolated ascending aortic aneurysm Isolated ascending[mayomedicallaboratories.com]

  • Familial Hypercholesterolemia

    lentis et pupillae 1 Ectopia Lentis, Isolated Autosomal Recessive 1 Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 3 EDICT Syndrome 1 Ehlers-Danlos Syndrome[preventiongenetics.com] […] and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma 1 Miller Syndrome 5 Miller-Dieker Lissencephaly Syndrome 1 Minicore Myopathy With External[preventiongenetics.com] , with Coloboma 10 1 Microphthalmia, Isolated, With Coloboma 3 2 Microphthalmia, Isolated, With Coloboma 6 1 Microphthalmia, Isolated, with Coloboma 9 1 Microspherophakia[preventiongenetics.com]

  • Micturition Syncope

    […] with Ocular Anomalies Microphthalmia with cataract Microphthalmia with myopia and corectopia Microphthalmia with ectopia lentis Microphthalmia with congenital retinal detachment[aao.org] A Practical Classification of Microphthalmia/Coloboma Isolated Microphthalmia Colobomatous Isolated uveoretinal coloboma Microphthalmia with cyst Non-colobomatous Microphthalmia[aao.org]

  • MASS Syndrome

    More than 30 mutations in the FBN1 gene have been found to cause isolated ectopia lentis.[ghr.nlm.nih.gov] Familial ectopia lentis 1 Isolated ectopia lentis has been shown to segregate as a dominant trait in several families.[emedicine.medscape.com] Mutations in the FBN1 gene have also been observed in families with isolated ectopia lentis and MASS syndrome (myopia, mitral valve prolapse, borderline/non-progressive aortic[genedx.com]

  • Isolated Congenital Sclerocornea

    Lentis 1, Isolated, Autosomal Dominant Ectopia Lentis, Familial Ectopia Lentis, Isolated Ectopia Lentis, Isolated, Autosomal Dominant ECTOL1 129600 Genetic Test Registry[ukgtn.nhs.uk] lentis and megalocornea Goniodysgenesis Hereditary glaucoma Iridocorneal endothelial syndrome Iridogoniodysgenesis Isolated congenital megalocornea Isolated congenital sclerocornea[se-atlas.de] Congenital lens dislocation/AD/FBN1/#129600 ECTOPIA LENTIS, ISOLATED/Lens dislocation/AR/ADAMTSL4/#225100 EHLERS-DANLOS SYNDROME /Myopia, ectopia lentis, blue sclera, epicanthal[eyewiki.org]

  • Knobloch Syndrome Type 1

    […] megalocornea Isolated congenital sclerocornea Isolated cryptophthalmia Isolated distichiasis Isolated ectopia lentis Isolated optic nerve hypoplasia/aplasia Juvenile cataract-microcornea-renal[se-atlas.de] ID Abbreviation Name OMIM ID Individuals Phenotypes Associated with genes Associated tissues Disease features 01764 - Ectopia lentis, isolated autosomal recessive 225100 16[databases.lovd.nl] […] aniridia Isolated ankyloblepharon filiforme adnatum Isolated anophthalmia-microphthalmia syndrome Isolated congenital alacrima Isolated congenital ectropion Isolated congenital[se-atlas.de]

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