Posters

Late diagnosis of homocystinurea through ectopia lentis which was addressed with endocapsular vitrector-assisted lensectomy: a case report

Poster Details

First Author: A.Mourgela GREECE

Co Author(s): D. Osborne   S. Lash   J. Self              

Abstract Details

Purpose:

To present an interesting case of a 7.5-year-old patient with reduced vision and undiagnosed homocystinurea (HCU)

Setting:

Eye Unit, University Hospital Southampton,UK

Methods:

A 7.5 year-old girl presented to Screening Eye Clinic having failed her school’s eye test. She was born full term. She was generally delayed in several developmental milestones and significantly behind at school, but the rest of her medical history was unremarkable. She was strikingly blond, unlike other family members and tall for her age. Clinical examination revealed bilateral inferonasal subluxation of the crystalline lenses with broken zonules.

Results:

Further testing was ordered for the differential diagnosis of ectopia lentis and the results showed an abnormal amino-acid profile with high homocysteine levels suggesting homocystinurea. Since the subluxation was significant in both eyes, the lenses were removed. The endocapsular vitrector-assisted technique was preferred in order to secure that no lenticular material would be lost in the vitreous and to provide a more gentle manipulation of the fragile zonules. No IOL was inserted during the lensectomies and aphakic glasses were prescribed 1 month postoperatively. Despite the poor cooperation of the patient, the postoperative course was uneventful.

Conclusions:

Since the Newborn Blood Spot Test for HCU was introduced only in 2015 in UK, the classic presentation of homocystinurea even if it is rare could still be found; therefore awareness of the entity is important. Treatment with pyridoxine, folic acid and vitamin B-12 can reduce the levels of homocysteine and even reverse some of the complications especially if started early. The endocapsular lensectomy, usually used to address Marfan’s ectopia lentis, proved to be a safe technique for removing the subluxated lenses. Special care should be taken during surgery under anaesthesia due to increased risk of thromboembolic events.

Financial Disclosure:

None