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1,004 Possible Causes for Ectopia Lentis, Nystagmus

  • Homocystinuria

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

  • 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] 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] In addition, we observed corneal opacity and microphthalmus in family 1, and strabismus, left ectopia lentis, microphthalmus, and microcornea in family 2.[ncbi.nlm.nih.gov]

  • Foveal Hypoplasia - Presenile Cataract Syndrome

    Ectopia lentis may be hereditary or acquired.[archive.org] Foveal hypoplasia Nystagmus Optic atrophy Presenile cataracts Visual impairment Back to: « Foveal hypoplasia Genetics of Foveal hypoplasia and presenile cataract syndrome[familydiagnosis.com] Most infantile forms of nystagmus, such as idiopathic nystagmus with or without a mutation in FRMD7 or nystagmus associated with albinism, are in the horizontal direction.[nature.com]

  • Isolated Congenital Sclerocornea

    lentis and megalocornea Goniodysgenesis Hereditary glaucoma Iridocorneal endothelial syndrome Iridogoniodysgenesis Isolated congenital megalocornea Isolated congenital sclerocornea[se-atlas.de] Strabismus and nystagmus may occur.[emedicine.medscape.com] 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]

  • 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.[ncbi.nlm.nih.gov] […] 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[icdlist.com] 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[egms.de]

  • 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[emedicine.medscape.com] The first patient (female, 50 years old) had dysarthria, nystagmus and trunk ataxia on admission. Her blood alcohol level was 2.3‰.[ncbi.nlm.nih.gov] 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[msdmanuals.com]

  • 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[emedicine.medscape.com] Remaining 8 patients were also symptomatic for vertigo, but they had spontaneous nystagmus. The latter group was called "disease control."[ncbi.nlm.nih.gov] It is important to observe the nystagmus periodically after onset.[ncbi.nlm.nih.gov]

  • 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] Nystagmus (dancing of the eyes), and strabismus (crossing of the eyes) are often present.[disorders.eyes.arizona.edu] 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]

  • 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] 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] lentis Bloom syndrome Blue cone monochromatism Borjeson-Forssman-Lehmann syndrome Bradyopsia Brittle cornea syndrome Brown syndrome CADASIL Carney complex Cat eye syndrome[familydiagnosis.com]

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

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