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52 Possible Causes for Ectopia Lentis, Postural Defect

  • Homocystinuria

    KEYWORDS: Ectopia lentis; Homocystinuria; Non-traumatic; Pakistan[ncbi.nlm.nih.gov] Ectopia lentis, diagnosed several years before, didn't have been considered as possible sign of a metabolic disorder.[ncbi.nlm.nih.gov] It is necessary to rule out homocystinuria in patients with ectopia lentis, even in the absence of systemic symptoms.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Optic Atrophy and Cataract

    Some patients with Leber hereditary optic neuropathy have cardiac conduction defects.[merckmanuals.com] lentis and megalocornea Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome Goldmann-Favre syndrome Goniodysgenesis Gonococcal conjunctivitis Granular[se-atlas.de] Progression of ectopia lentis in the Marfan syndrome. Alcorn DM, Maumenee IH. In preparation.[columbiaeye.org]

  • Familial Congenital Palsy of Trochlear Nerve

    Neuropathology shows a primary defect of the superior division of oculomotor nerve. CFEOM3 phenotype.[yumpu.com] lentis-chorioretinal dystrophy-myopia syndrome Endophthalmitis Endotheliitis Essential iris atrophy Familial benign flecked retina Familial congenital palsy of trochlear[se-atlas.de] Most common CFEOM phenotype: bilateral ptosis, infraducted globes in primary position, limited supraduction, chin-up head posture and variably restricted horizontal gaze.[yumpu.com]

  • Cutis Laxa

    Dystonic posturing was discriminatory for PYCR1 and ALDH18A1 defects. Metabolic markers of mitochondrial dysfunction were found in one patient with PYCR1 mutations.[ncbi.nlm.nih.gov] lentis, myopia, retinal detachment Cardiac findings: congenital heart defect, aortic root enlargement, thoracic aneurysm, aortic dissection, other aneurysms/dissections,[unmc.edu] Epilepsy was most common in ATP6V0A2 defects. Corpus callosum dysgenesis was associated with PYCR1 and ALDH18A1 mutations.[ncbi.nlm.nih.gov]

  • X-Linked Osteoporosis with Fractures

    Postural unsteadiness is evident when patients begin walking.[disorders.eyes.arizona.edu] Ectopia lentis occurs in 90% of patients and 94% of these are noted by the age of 20 years.[disorders.eyes.arizona.edu] Hepatomegaly and jaundice may also be an early diagnostic feature as bile acid metabolism is defective. Infant hypotonia is often seen.[disorders.eyes.arizona.edu]

  • Hereditary Optic Atrophy

    Some patients with Leber hereditary optic neuropathy have cardiac conduction defects.[merckmanuals.com] lentis-chorioretinal dystrophy-myopia syndrome Familial benign flecked retina Familial drusen Familial flecked retinopathy Familial primary hypomagnesemia with hypercalciuria[se-atlas.de] Other patients have minor neurologic abnormalities, such as a postural tremor, loss of ankle reflexes, dystonia, spasticity, or a multiple sclerosis–like illness.[merckmanuals.com]

  • Dysautonomia

    However, the following have been identified and may be involved: Single gene defects. Accumulation of toxins. Autoantibodies.[patient.info] lentis, isolated, autosomal dominant Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form Ehlers-Danlos syndrome, hydroxylysine-deficient Ehlers-Danlos syndrome[pentacorelab.hu] Ganglionic receptor antibodies (postural orthostatic tachycardia syndrome). Ganglioside autoantibodies (Guillain-Barré syndrome).[patient.info]

  • Hypermobility Syndrome

    Ectopia lentis is absent.[rheumatologyadvisor.com] […] orthostatic tachycardia syndrome (POTS) People with EDS or Marfans can experience a range of other serious symptoms because these disorders cause a defect in all the connective[buzzfeed.com] It is characterized by marfanoid body habitus, ectopia lentis, mental retardation, and generalized joint hypermobility.[jmgims.co.in]

  • Ehlers-Danlos-Syndrome Type 10

    Visually and posturally mediated tilt illusion in Parkinson’s disease and in labyrinthine defective subjects.[journal.frontiersin.org] MFS is an autosomal-dominant disorder that affects the cardiovascular, ocular and skeletal system with aortic root dilation/dissection, ectopia lentis and bone overgrowth,[ncbi.nlm.nih.gov] Related disorders include Loeys-Dietz Syndrome, Ehlers-Danlos Syndrome, Familial Thoracic Aortic Aneurysm and Dissection, MASS Phenotype, Ectopia Lentis Syndrome, Beals Syndrome[charities.org]

  • Optic Atrophy

    Some patients with Leber hereditary optic neuropathy have cardiac conduction defects.[merckmanuals.com] lentis-chorioretinal dystrophy-myopia syndrome Familial benign flecked retina Familial drusen Familial flecked retinopathy Familial primary hypomagnesemia with hypercalciuria[se-atlas.de] Other patients have minor neurologic abnormalities, such as a postural tremor, loss of ankle reflexes, dystonia, spasticity, or a multiple sclerosis–like illness.[merckmanuals.com]

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