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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.[ncbi.nlm.nih.gov] […] 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[radiopaedia.org] A related disorder, dominant ectopia lentis (EL), has also been linked genetically to this locus.[doi.org]

  • Homocystinuria

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

  • Ectopia Lentis

    Ectopia lentis. Dislocated lens into the vitreous secondary to trauma. Ectopia lentis.[emedicine.com] 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[ncbi.nlm.nih.gov] KEYWORDS: Ectopia lentis; Homocystinuria; Non-traumatic; Pakistan[ncbi.nlm.nih.gov]

  • 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[eyewiki.aao.org] 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.[ncbi.nlm.nih.gov] The authors describe recurrent lens dislocation into the anterior chamber in a young girl with homocystinuria.[ncbi.nlm.nih.gov]

  • 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] 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[blueprintgenetics.com] […] 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[study.com]

  • 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.[ncbi.nlm.nih.gov] 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[curehunter.com] Ocular manifestations in the Marfan syndrome and homocystinuria. Am J Ophthalmol 1973; 75 :405–20. 4 Probert LA. Spherophakia with brachydactyly.[nature.com]

  • 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[eyewiki.aao.org] , 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[boks.be] Accumulation of Collagen Elastin Proteoglycans Homocystinuria Manifestation Ocular abnormalities Osteoporosis Skeletal abnormalities Mental retardation Cystathionuria Deficiency[brainscape.com]

  • 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,[medicalhomeportal.org] Homocystinuria, hereditary metabolic disorder involving methionine, a sulfur-containing essential amino acid.[britannica.com] lentis (downward dislocation) [ 3 ] or subluxation of lens Myopia ( Nearsightedness ) Glaucoma Optic atrophy Vascular disease extensive atheroma formation at young age which[dictionnaire.sensagent.leparisien.fr]

  • 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[ommbid.mhmedical.com] Homocystinuria with methylmalonic acidemia is a rare metabolic disorder.[symptoma.com] The combination of methylmalonic aciduria, homocystinuria and normal serum cobalamin concentrations is required to distinguish patients.[orpha.net]

  • Congenital Contractural Arachnodactyly

    We report on a patient with CCA with bilateral ectopia lentis and aortic root dilatation.[ncbi.nlm.nih.gov] Its similarities to Marfan's syndrome and homocystinuria, as well as other syndromes, are discussed.[ncbi.nlm.nih.gov] 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.[ncbi.nlm.nih.gov]

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