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Case Reports

Homocysteinemia due to MTHFR deficiency in a young adult presenting with bilateral lens subluxations

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Pages 91-94 | Received 11 Nov 2015, Accepted 07 Jan 2016, Published online: 04 Apr 2016

References

  • Prasad AN, Rupar CA, Prasad C. Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy. Brain Dev 2011;33:758–769.
  • Sibani S, Christensen B, O’Ferrall E, et al. Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria. Hum Mutat 2000;15:280–287.
  • Homberger A, Linnebank M, Sewell A, et al. Severe methylenetetrahyrofolate reductase deficiency: Two novel genotypes with different clinical course. J Inherit Metabol Disorders 2001;24(Suppl. 1):50.
  • Hafidi Z, Daoudi R. Images in clinical medicine. Anterior dislocation of the lens. N Engl J Med 2014;370:1343.
  • Hafidi Z, Berradi S, Handor H, et al. Atypical presentation of ectopia lentis in homocystinuria. J Pediatr 2015;166:1091.
  • Martínez-Gutiérrez JD, Mencía-Gutiérrez E, Gracia-García-Miguel T, et al. Classical familial homocystinuria in an adult presenting as an isolated lens subluxation. Int Ophthalmol 2011;31:227–232.
  • Shafique M, Muzaffar W, Ishaq M. The eye as a window to a rare disease: Ectopia lentis and homocystinuria, a Pakistani perspective. Int Ophthalmol 2016;36:79–83.
  • Mudd SH, Skovby F, Levy HL, et al. The natural history of homocystinuria due to cystathionine beta-synthase deficiency. Am J Hum Genet 1985;37:1–31.
  • Cross HE, Jensen AD. Ocular manifestations in the Marfan syndrome and homocystinuria. Am J Ophthalmol 1973;75:405–420.
  • Kaliaperumal S, Kumar KP, Bhuvaneshwari, et al. Varied phenotypic presentations of homocystinuria in two siblings. Indian J Ophthalmol 2014;62:93–94.
  • Faivre L, Gorlin RJ, Wirtz MK, et al. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet 2003;40:34–36.
  • Khan AO, Aldahmesh MA, Alsharif H, et al. Recessive mutations in LEPREL1 underlie a recognizable lens subluxation phenotype. Ophthalmic Genet 2015;36:58–63.
  • Chandra A, Charteris D. Molecular pathogenesis and management strategies of ectopia lentis. Eye (Lond) 2014;28:162–168.
  • Wagoner MD, Cox TA, Ariyasu RG, et al. Ophthalmology: Intraocular lens implantation in the absence of capsular support: A report by the American Academy of Ophthalmology. Ophthalmology 2003;110:840–859.
  • Cleary C, Lanigan B, O’Keeffe M. Artisan iris-claw lenses for the correction of aphakia in children following lensectomy for ectopia lentis. Br J Ophthalmol 2012;96:419–421.
  • Vote BJ, Tranos P, Bunce C, et al. Long-term outcome of combined pars plana vitrectomy and scleral fixated sutured posterior chamber intraocular lens implantation. Am J Ophthalmol 2006;141:308–312.
  • Yang YF, Bunce C, Dart JK, et al. Scleral-fixated posterior chamber intraocular lenses in non-vitrectomized eyes. Eye (Lond) 2006;20:64–70.
  • Johnston RL, Charteris DG, Horgan SE, et al. Combined pars plana vitrectomy and sutured posterior chamber implant. Arch Ophthalmol 2000;118:905–910.
  • Watkins D, Rosenblatt DS. Inborn errors of cobalamin absorption and metabolism. Am J Med Genet C Semin Med Genet 2011;157C:33–44.
  • Carrillo-Carrasco N, Sloan J, Valle D, et al. Hydroxocobalamin dose escalation improves metabolic control in cblC. J Inherit Metab Dis 2009;32:728–731.
  • Schiff M, Blom HJ. Treatment of inherited homocystinurias. Neuropediatrics 2012;43:295–304.
  • American College of Medical Genetics Newborn Screening Expert Group. Newborn screening: Toward a uniform screening panel and system—Executive summary. Pediatrics 2006;117:S296–307.

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