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3,821 Possible Causes for Ectopia Lentis, Midline Occipital Bone Defect, Nystagmus

  • 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[] Nystagmus (dancing of the eyes), and strabismus (crossing of the eyes) are often present.[] ID Abbreviation Name OMIM ID Individuals Phenotypes Associated with genes Associated tissues Disease features 01764 - Ectopia lentis, isolated autosomal recessive 225100 16[]

  • Homocystinuria

    KEYWORDS: Ectopia lentis; Homocystinuria; Non-traumatic; Pakistan[] Other findings included peripheral retinopathy (8/12 [67%]), nystagmus (8/12 [67%]), strabismus (5/12 [42%]), and optic atrophy (6/12 [50%]).[] Case 2 involves an 8-year-old girl with nystagmus and developmental delay in whom megaloblastic anaemia was detected at 11 weeks of age.[]

    Missing: Midline Occipital Bone Defect
  • Aniridia

    It can also appear with other ocular anomalies, such as cataracts, glaucoma, corneal pannus, optic nerve hypoplasia, macular hypoplasia, or ectopia lentis.[] The twins' father presented with congenital aniridia, nystagmus and cataract at birth, while the twins presented with congenital aniridia and nystagmus.[] In addition, we observed corneal opacity and microphthalmus in family 1, and strabismus, left ectopia lentis, microphthalmus, and microcornea in family 2.[]

    Missing: Midline Occipital Bone Defect
  • Isolated Congenital Sclerocornea

    lentis and megalocornea Goniodysgenesis Hereditary glaucoma Iridocorneal endothelial syndrome Iridogoniodysgenesis Isolated congenital megalocornea Isolated congenital sclerocornea[] Strabismus and nystagmus may occur.[] Congenital lens dislocation/AD/FBN1/#129600 ECTOPIA LENTIS, ISOLATED/Lens dislocation/AR/ADAMTSL4/#225100 EHLERS-DANLOS SYNDROME /Myopia, ectopia lentis, blue sclera, epicanthal[]

    Missing: Midline Occipital Bone Defect
  • Lens Coloboma

    We present a case of Marfan syndrome with lens coloboma in one eye and ectopia lentis in the other. A 14-year-old girl reported decreased vision in the left eye.[] […] increased pressure inside the eye (glaucoma) that can damage the optic nerve, vision problems such as nearsightedness (myopia), involuntary back-and-forth eye movements (nystagmus[] Bilateral ectopia lentis with isolated lens coloboma in Marfan syndrome Case Report Abstract A rare case of bilateral ectopia lentis with isolated lens coloboma in Marfan[]

    Missing: Midline Occipital Bone Defect
  • Stroke

    Patients have a marfanoid habitus, ectopia lentis, and myopia and generally have intellectual disability. [29] Thromboembolic events are the most common cause of death for[] The first patient (female, 50 years old) had dysarthria, nystagmus and trunk ataxia on admission. Her blood alcohol level was 2.3‰.[] Posterior cerebral artery Monocular loss of vision (amaurosis) Ophthalmic artery (a branch of the internal carotid artery) Unilateral or bilateral cranial nerve deficits (eg, nystagmus[]

    Missing: Midline Occipital Bone Defect
  • Cerebellar Stroke

    Patients have a marfanoid habitus, ectopia lentis, and myopia and generally have intellectual disability. [29] Thromboembolic events are the most common cause of death for[] Remaining 8 patients were also symptomatic for vertigo, but they had spontaneous nystagmus. The latter group was called "disease control."[] It is important to observe the nystagmus periodically after onset.[]

    Missing: Midline Occipital Bone Defect
  • Oculo-Osteo-Cutaneous Syndrome

    Lentis Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation FACES Syndrome fibrochondrogenesis Foveal Hypoplasia and Anterior Segment Dysgenesis[] 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[] lentis Bloom syndrome Blue cone monochromatism Borjeson-Forssman-Lehmann syndrome Bradyopsia Brittle cornea syndrome Brown syndrome CADASIL Carney complex Cat eye syndrome[]

    Missing: Midline Occipital Bone Defect
  • 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[] […] the condition may include: 1 Clinical Features of Retinal degeneration-nanophthalmos-glaucoma syndrome : Visual impairment Abnormal electroretinogram Myopia Microphthalmia Nystagmus[] ANTERIOR SEGMENT DYSGENESIS 2; ASGD2 Is also known as aphakia, congenital primary;cpak, cpa; Related symptoms: Autosomal recessive inheritance Nystagmus Abnormal facial shape[]

    Missing: Midline Occipital Bone Defect
  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    Lentis Craniosynostosis with Fibular Aplasia Craniosynostosis with Ocular Abnormalities and Hallucal Defects Craniosynostosis, Adelaide Type Craniosynostosis, Anal Anomalies[] Axial NECT shows a small amount of brain protruding posteriorly through a midline defect in the occipital bone. 56 Figure 2. Encephalocele.[] Synopsis partial or complete absence of cerebellar vermis cystic dilation of the fourth ventricle (dilated fourth ventricle) hydrocephalus bulging occiput cranial nerve palsies nystagmus[]

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