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175 Possible Causes for Ectopia Lentis Spherophakia

  • Marchesani-Weill Syndrome

    Abstract Background Weill-Marchesani syndrome is a rare systemic connective tissue disorder consisting of brachymorphy, brachydactyly, ectopia lentis, spherophakia and glaucoma[nature.com] (PMID: 19696795) Ben Yahia S … Khairallah M (Journal of human genetics 2009) 3 22 60 Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis,[genecards.org] These typically include unusually small, round lenses of the eyes (spherophakia) that may be prone to dislocating ectopia lentis as well as other ocular defects.[wikidoc.org]

  • Secondary Glaucoma

    Homepage Rare diseases Search Search for a rare disease Glaucoma secondary to spherophakia/ectopia lentis and megalocornea Disease definition Glaucoma secondary to spherophakia[orpha.net] In addition to congenital megalocornea, affected children presented with secondary glaucoma from spherophakia and/or ectopia lentis.[ncbi.nlm.nih.gov] ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia[orpha.net]

  • Ectopia Lentis

    John Kanellopoulos, MD Meeting 2017 Annual Meeting Date May 09, 2017 A 4-year-old girl presented with severe visual loss in the left eye and superonasal ectopia lentis and[ascrs.org] Patient diagnoses included Marfan syndrome (nine eyes), ectopia lentis et pupillae (three eyes), simple ectopia lentis (two eyes), homocystinuria (two eyes), and sporadic[ncbi.nlm.nih.gov] , ectopia lentis et pupillae, spherophakia, iris coloboma, retinitis pigmentosa, and Reiger syndrome.[visualdx.com]

  • Isolated Congenital Sclerocornea

    ectopia lentis and megalocornea Goniodysgenesis Hereditary glaucoma Iridocorneal endothelial syndrome Iridogoniodysgenesis Isolated congenital megalocornea Isolated congenital[se-atlas.de] Corneogoniodysgenesis Corneoiridogoniodysgenesis Distal monosomy 6p Essential iris atrophy Glaucoma associated with neural crest cell migration anomaly Glaucoma secondary to spherophakia[se-atlas.de]

  • Familial Recurrent Peripheral Facial Palsy

    lentis-microspherophakia-stiff joints-short stature syndrome Glaucoma secondary to spherophakia/ectopia lentis and megalocornea Glaucoma-sleep apnea syndrome GLB1 deficiency[orpha.net] GIST GIST-paraganglioma dyad Gitelman syndrome Giuffré-Tsukahara syndrome GLA Glanzmann thrombasthenia Glass bone disease Glassy cell carcinoma of the cervix uteri Glaucoma-ectopia[orpha.net]

  • Lens Dislocation

    , ectopia lentis et pupillae, spherophakia, iris coloboma, retinitis pigmentosa, and Reiger syndrome.[visualdx.com] Other less common conditions associated with ectopia lentis include Ehlers-Danlos syndrome, sulfite oxidase deficiency, hyperlysinemia, congenital syphilis, Apert's disease[visualdx.com]

  • Marfan Syndrome

    Meyer and Nada Al Tassan , Homozygous Mutations in ADAMTS10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature , The American[doi.org]

  • Granulomatous Mastitis

    lentis-microspherophakia-stiff joints-short stature syndrome Glaucoma secondary to spherophakia/ectopia lentis and megalocornea Glaucoma-sleep apnea syndrome GLB1 deficiency[orpha.net] GIST GIST-paraganglioma dyad Gitelman syndrome Giuffré-Tsukahara syndrome GLA Glanzmann thrombasthenia Glass bone disease Glassy cell carcinoma of the cervix uteri Glaucoma-ectopia[orpha.net]

  • Hydrophthalmos

    Most patients have additional signs such as ectopia lentis and spherophakia.[disorders.eyes.arizona.edu] THIS CONDITION IS THEREFORE RECLASSIFIED AS " MEGALOCORNEA, ECTOPIA LENTIS, AND SPHEROPHAKIA ".[disorders.eyes.arizona.edu]

  • Hereditary Hyperekplexia

    759.89 Stickler 759.89 stiff-baby 759.89 Taybi's (otopalatodigital) 759.89 Ullrich-Feichtiger 759.89 VATER 759.89 Weill-Marchesani (brachymorphism and ectopia lentis) 759.89[icd9data.com] […] hemihypertrophy and short stature) 759.89 Seckel's 759.89 sick Silver's (congenital hemihypertrophy and short stature) 759.89 Smith-Lemli-Opitz (cerebrohepatorenal syndrome) 759.89 spherophakia-brachymorphia[icd9data.com]

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