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Srpski arhiv za celokupno lekarstvo 2017 Volume 145, Issue 9-10, Pages: 513-515
https://doi.org/10.2298/SARH160907075J
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Delayed diagnosis of homocystinuria presenting as bilateral congenital lens subluxation

Jelić-Vuković Marija (Clinical Hospital Center Osijek, Department of Ophtalmology, Osijek, Croatia + Josip Juraj Strossmayer University of Osijek, Faculty of Medicine Osijek, Osijek, Croatia)
Matić Suzana (Clinical Hospital Center Osijek, Department of Ophtalmology, Osijek, Croatia + Josip Juraj Strossmayer University of Osijek, Faculty of Medicine Osijek, Osijek, Croatia)
Barać Josip (Clinical Hospital Center Osijek, Department of Ophtalmology, Osijek, Croatia + Josip Juraj Strossmayer University of Osijek, Faculty of Medicine Osijek, Osijek, Croatia)
Novinščak Tomislav (Institute for Emergency Medicine of Međimurje county, Čakovec, Croatia)
Belovari Mirna (County Hospital Čakovec, Department of Ophthalmology, Čakovec, Croatia)
Barić Hrvoje (County Hospital Čakovec, Department of Ophthalmology, Čakovec, Croatia)

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.

Keywords: lens subluxation, homocystinuria, Glaucoma