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893 Possible Causes for Ectopia Lentis, Homocystinuria

  • Marfan Syndrome

    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.[] […] described in 1896 by Antoine Bernard-Jean Marfan , French pediatrician (1858-1942). patients with Loeys-Dietz syndrome have similar features to Marfan syndrome patients with homocystinuria[] A related disorder, dominant ectopia lentis (EL), has also been linked genetically to this locus.[]

  • Homocystinuria

    KEYWORDS: Ectopia lentis; Homocystinuria; Non-traumatic; Pakistan[] Patients with homocystinuria can present at birth or later in life.[] Ectopia lentis, diagnosed several years before, didn't have been considered as possible sign of a metabolic disorder.[]

  • Ectopia Lentis

    Ectopia lentis. Dislocated lens into the vitreous secondary to trauma. Ectopia lentis.[] Homocystinuria is a genetically determined error of metabolism of the amino acid, methionine, which results in increased levels of homocystine and methionine in the blood[] KEYWORDS: Ectopia lentis; Homocystinuria; Non-traumatic; Pakistan[]

  • Lens Dislocation

    . [3] Ocular diseases associated with ectopia lentis Simple ectopia lentis – simple ectopia lentis can occur as a congenital disorder or as a spontaneous disorder later in[] The ocular findings in patients with homocystinuria due to cystathionine-beta-synthetase (CBS) deficiency are reviewed and a new approach to lens surgery is presented.[] The authors describe recurrent lens dislocation into the anterior chamber in a young girl with homocystinuria.[]

  • Isolated Ectopia Lentis

    We here describe an isolated form of ectopia lentis in a large inbred family that shows autosomal-recessive inheritance.[] The syndromic forms of ectopia lentis include Marfan syndrome caused by mutations in the FBN1 gene, homocystinuria caused by mutations in the CBS gene, Weill-Marchesani syndrome[] […] trauma to the eye, such as a ball hitting the eye Certain eye diseases such as microspherophakia and megalocornea Systemic diseases of the body, such as Marfan syndrome and homocystinuria[]

  • Marchesani-Weill Syndrome

    Simple dominant ectopia lentis. Pathogenic variants in FBN1 have been identified in some families. Inheritance is autosomal dominant. Ectopia lentis and pupilae.[] Signal Peptide) : 1 result : IBA Thrombospondins : 1 result : IBA Show All Diseases Related to Weill-Marchesani Syndrome Marfan Syndrome (Marfan's Syndrome) Ectopia Lentis Homocystinuria[] Ocular manifestations in the Marfan syndrome and homocystinuria. Am J Ophthalmol 1973; 75 :405–20. 4 Probert LA. Spherophakia with brachydactyly.[]

  • Hyperlysinemia Type 1

    . [3] Ocular diseases associated with ectopia lentis Simple ectopia lentis – simple ectopia lentis can occur as a congenital disorder or as a spontaneous disorder later in[] , B6 responsive and non responsive 12 homocystinuria due to MTHFR deficiency 13 homocystinuria-megaloblastic anemia Cbl E & G type (extra document voor 11-12-13) 14 methionine[] Accumulation of Collagen Elastin Proteoglycans Homocystinuria Manifestation Ocular abnormalities Osteoporosis Skeletal abnormalities Mental retardation Cystathionuria Deficiency[]

  • Disorder of Sulfur-Bearing Amino Acid Metabolism

    Clinical Characteristics With treatment normal IQ is possible and reduction of thromboembolic events may decrease the incidence of other sequelae, such as ectopia lentis,[] Homocystinuria, hereditary metabolic disorder involving methionine, a sulfur-containing essential amino acid.[] lentis (downward dislocation) [ 3 ] or subluxation of lens Myopia ( Nearsightedness ) Glaucoma Optic atrophy Vascular disease extensive atheroma formation at young age which[]

  • Methylmalonic Acidemia with Homocystinuria Type cblF

    lentis Skin Symptoms Coarse facies ( Table 66-42 ) Skin lesions (vesicobullous lesions, rashes, photosensitivity, hyperkeratosis, ichthyosis, ulcers, nodules, laxity) ( Tables[] Homocystinuria with methylmalonic acidemia is a rare metabolic disorder.[] The combination of methylmalonic aciduria, homocystinuria and normal serum cobalamin concentrations is required to distinguish patients.[]

  • Congenital Contractural Arachnodactyly

    We report on a patient with CCA with bilateral ectopia lentis and aortic root dilatation.[] Its similarities to Marfan's syndrome and homocystinuria, as well as other syndromes, are discussed.[] Ectopia lentis was also linked to the fibrillin gene on chromosome 15, whereas congenital contractural arachnodactyly was linked to the fibrillin gene on chromosome 5.[]

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