delayed diagnosis of homocystinuria presenting as bilateral congenital lens subluxation

Clicks: 154
ID: 163298
2017
Article Quality & Performance Metrics
Overall Quality
Not rated
Combines reader engagement with the AI quality analysis. This article has not been analysed, so there is no overall score — reader engagement is measured and shown alongside.
AI Quality Assessment
Not analyzed
Readership in this journal
Emerging

Ranked #71 of 96 articles by views in Journal of Asian natural products research

Most read Least read

Bar heights use a square-root scale.

Mint this article as an NFT
Not yet minted

Create a permanent, verifiable on-chain record of this article on the Scimatic Network. The NFT is held in your Journament account, and you can withdraw it to your own wallet at any time.

5 SUSD one-off · no wallet required
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. The patient was prescribed folic acid, methionine, and pyridoxine, and was urged to maintain a methionine-low diet. After a bilateral lensectomy and sulcus fixation of the intraocular lens and a methionine restriction therapy combined with vitamin B6, B9, and B12 supplementation, his condition improved greatly. Conclusion. In this report of a rare case we emphasize the importance of examining differential diagnoses of lens subluxation, since early intervention can prevent serious complications.
Reference Key
marija2017srpskidelayed Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors ;Jelić-Vuković Marija;Matić Suzana;Barać Josip;Novinščak Tomislav;Belovari Mirna;Barić Hrvoje
Journal Journal of Asian natural products research
Year 2017
DOI
10.2298/SARH160907075J
URL
Keywords

Citations

No citations found. To add a citation, contact the admin at info@scimatic.org

No comments yet. Be the first to comment on this article.