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137 Possible Causes for Ectopia Lentis, Nystagmus, Persistent Fetal Vasculature

  • Knobloch Syndrome Type 1

    In addition, six children had temporal ectopia lentis, found had posterior perinuclear lens opacity, two had developmental delay, one developed epilepsy, and one had heterotopic[cags.org.ae] Persistent fetal vasculature is the other endostatin-deficiency related condition in KS patients.[journals.plos.org] Nystagmus (dancing of the eyes), and strabismus (crossing of the eyes) are often present.[disorders.eyes.arizona.edu]

  • Aniridia

    It can also appear with other ocular anomalies, such as cataracts, glaucoma, corneal pannus, optic nerve hypoplasia, macular hypoplasia, or ectopia lentis.[ncbi.nlm.nih.gov] fetal vasculature, cataract, choroidal coloboma, microphthalmia, and optic nerve dysplasia.[ncbi.nlm.nih.gov] The twins' father presented with congenital aniridia, nystagmus and cataract at birth, while the twins presented with congenital aniridia and nystagmus.[ncbi.nlm.nih.gov]

  • Microcornea

    Ectopia lentis is the major ocular criterion. Minor ocular criteria include flat corneas, increased axial length ( 23.5 mm), and iris hypoplasia with miosis.[jamanetwork.com] @article{1ac7500cf6794aed8d049ea75769f233, title "Endoscopic Vitrectomy for Microcornea, Posterior Megalolenticonus, Persistent Fetal Vasculature, Coloboma Syndrome", author[scholars.northwestern.edu] Retinal detachment was suspected, although the details were obscure because of nystagmus and small pupils.[ncbi.nlm.nih.gov]

  • Congenital Cataract

    Lentis 1, Isolated, Autosomal Dominant Ectopia Lentis, Familial Ectopia Lentis, Isolated Ectopia Lentis, Isolated, Autosomal Dominant ECTOL1 129600 Genetic Test Registry[ukgtn.nhs.uk] Abstract PurposeTo describe the frequency, characteristics, and treatment outcome of persistent fetal vasculature (PFV) in children undergoing surgery for congenital and infantile[ncbi.nlm.nih.gov] PURPOSE: To identify the potential candidate genes for a large Chinese family with autosomal dominant congenital cataract (ADCC) and nystagmus, and investigate the possible[ncbi.nlm.nih.gov]

  • Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome

    lentis Congenital cataract Rare Symptoms - Less than 30% cases Peters anomaly Ectopia pupillae Abnormal iris vasculature Posterior polar cataract Hypertension High myopia[mendelian.co] Fetal Vasculature (PFV) Persistent Hyperplastic Vitreous/Persistent Fetal Vasculature Peters Anomaly Phacoanaphylactic Glaucoma Phacolytic Glaucoma Phacomorphic Glaucoma[catalyst.library.jhu.edu] […] the condition may include: 1 Clinical Features of Retinal degeneration-nanophthalmos-glaucoma syndrome : Visual impairment Abnormal electroretinogram Myopia Microphthalmia Nystagmus[familydiagnosis.com]

  • Congenital Primary Aphakia

    Developmental defects Ectopia lentisEctopia lentis: Displacement of the lens  Congenital  Developmental  Acquired  Subluxation: Partial displacement from its normal[slideshare.net] Persistent hyperplastic primary vitreous Persistent hyperplastic primary vitreous (PHPV) is also referred to as persistent fetal vasculature (PFV) or persistent fetal vasculature[institut-vision.org] The patient exhibited iridodonesis, nystagmus, displacement of pupil and aphakia in both eyes.[ijo.in]

  • Isolated Congenital Sclerocornea

    lentis and megalocornea Goniodysgenesis Hereditary glaucoma Iridocorneal endothelial syndrome Iridogoniodysgenesis Isolated congenital megalocornea Isolated congenital sclerocornea[se-atlas.de] […] of the embryonic blood vessel (the hyaloid artery system) that supplies certain regions of the eyes (persistent fetal vasculature, the hyaloid artery usually disappears during[rarediseases.org] Strabismus and nystagmus may occur.[emedicine.medscape.com]

  • Oculo-Osteo-Cutaneous Syndrome

    Lentis Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation FACES Syndrome fibrochondrogenesis Foveal Hypoplasia and Anterior Segment Dysgenesis[rgd.mcw.edu] fetal vasculature coloboma Microcornea corectopia macular hypoplasia Microphthalmia syndromic 10 Microphthalmia syndromic 4 Microphthalmia syndromic 5 Microphthalmia syndromic[familydiagnosis.com] 32 HP:0009803 22 short metacarpal 32 HP:0010049 23 short metatarsal 32 HP:0010743 UMLS symptoms related to Brachymetapody-Anodontia-Hypotrichosis-Albinoidism: irregular nystagmus[malacards.org]

  • Oculo-Palato-Cerebral Syndrome

    (congenital) 759.89 Ullrich-Feichtiger syndrome 759.89 VATER syndrome 759.89 Weill-Marchesani syndrome (brachymorphism and ectopia lentis) 759.89 "Whistling face" syndrome[icd9data.com] Chapter 145 – Persistent Fetal Vasculature Syndrome A. BAWA DASS MICHAEL T.[medtextfree.wordpress.com] Infant with visual inattention and nystagmus.[ojoonline.org]

  • Isolated Ectopia Lentis

    We here describe an isolated form of ectopia lentis in a large inbred family that shows autosomal-recessive inheritance.[ncbi.nlm.nih.gov] It can also occur as a secondary phenomenon due to persistent fetal vasculature. 1:02 Microspherophakia is a clinical description of a spherical lens, a lens that is reduced[hstalks.com] Phenotypes Amblyopia ; Cataract ; Cognitive impairment ; Ectopia lentis ; Ectopia pupillae ; Hypertension ; Joint stiffness ; Malar flattening ; Mandibular prognathia ; Nystagmus[mousephenotype.org]

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