publication . Article . 2017

Delayed diagnosis of homocystinuria presenting as bilateral congenital lens subluxation

Jelić-Vuković Marija; Matić Suzana; Barać Josip; Novinščak Tomislav; Belovari Mirna; Barić Hrvoje;
Open Access English
  • Published: 01 Jan 2017 Journal: Srpski Arhiv za Celokupno Lekarstvo (issn: 0370-8179, eissn: 2406-0895, Copyright policy)
  • Publisher: Serbian Medical Society
Abstract
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 performed. T...
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doi: 10.2298/SARH160907075J
Subjects
mesheuropmc: eye diseasesgenetic structuressense organs
free text keywords: R, lens subluxation, Glaucoma, Medicine, homocystinuria
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Srpski Arhiv za Celokupno Lekarstvo
Article . 2017
Provider: DOAJ-Articles
Serbian Medical Society/ Srpski Arhiv za Celokupno Lekarstvo
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