publication . Article . 2017

Delayed diagnosis of homocystinuria presenting as bilateral congenital lens subluxation

Marija Jelic-Vukovic; Mirna Belovari; Josip Barać; Suzana Matić; Tomislav Novinscak; Hrvoje Barić;
Open Access
  • Published: 01 Jan 2017 Journal: Srpski arhiv za celokupno lekarstvo, volume 145, pages 513-515 (issn: 0370-8179, eissn: 2406-0895, Copyright policy)
  • Publisher: National Library of Serbia
<jats:p>Introduction. Homocystinuria is an autosomal recessively inherited defect leading to hyperhomocysteinemia and associated with ocular manifestations, mainly myopia and ectopia lentis. Case outline. A 26-year-old male with secondary glaucoma due to bilateral lens subluxation was admitted to the Department of vitreoretinal surgery. Horizontal nystagmus, bilateral lens subluxation, and bilateral amblyopia were first discovered at the age of three years. Preoperative laboratory workup revealed elevated levels of homocysteine. Bilateral pars plana lensectomy and vitrectomy followed by a sulcus fixation of the intraocular lens (ALCON MA60 Acrysof IOL) were perf...
Medical Subject Headings: genetic structureseye diseasessense organs
free text keywords: General Medicine, Glaucoma, R, Surgery, medicine.medical_specialty, medicine, Homocystinuria, medicine.disease, Delayed diagnosis, business.industry, business, Lens subluxation
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