Something out of place: undiagnosed homocystinuria in a 10-year-old girl presenting with bilateral lens dislocations

Session Details

Session Title: Presented Poster Session: Cataract Complications & Special Cases

Venue: Poster Village: Pod 1

First Author: : D.Sahota UK

Co Author(s): :    M. Parulekar   S. Vijay   S. Tyredellis                 

Abstract Details

Purpose:

We report a case of a 10-year-old girl of Indian descent referred from another teaching hospital with lens dislocation. She moved to UK 1 year ago following the unexpected sudden death of mother aged 37 years. She was born to consanguineous parents but lives with her maternal aunt. She had a history of learning difficulties, developmental delay and epilepsy. Her 12 year old brother also had a diagnosis of epilepsy. Previous investigations by the paediatric neurology team for metabolic disorders were normal apart from raised serum methionine.

Setting:

Birmingham Children's Hospital, West Midlands, England, UK

Methods:

Due to MRI brain findings suggestive of idiopathic intracranial hypertension, she was referred to the local ophthalmology department to rule out papilloedema. She did not have papilloedema but was found to have dislocation of both crystalline lenses into the anterior chamber. Visual acuity was reduced to 6/60. Examination revealed myopia. The zonules were short, curly and broken – an appearance highly suggestive of homocystinuria. Due to risk of pupil block glaucoma and to encourage lens repositioning into the posterior chamber, both pupils were dilated with atropine, and she was referred to our unit. Mydriasis was unsuccessful in repositioning the lenses.

Results:

She therefore underwent surgery on both eyes to remove both lenses. The lenses were completely dislocated into the anterior chamber of both eyes with no zonular support. Anterior chamber micro-incision surgery was performed. The capsule was opened and iris hooks were placed at the capsular rim following capsulorrhexis to stabilise the lens, which was extremely mobile. AC maintainer was also used to minimise trauma to the corneal endothelium. Lens matter was aspirated and the remaining capsule was removed. The surgery was performed to both eyes and the child was left aphakic and will be treated with contact lenses for aphakia.

Conclusions:

Given the strong possibility of a diagnosis of homocystinuria, necessary anaesthetic precautions were taken peri-operatively including thromboprophylaxis and aggressive hydration. The bloods were sent which confirmed homocystinuria. MDT involvement was sought and the inherited metabolic diseases team arranged for further investigation and management, and indeed testing of the patient’s brother. The patient is currently being tested for response to pyridoxine to consider whether this may be a viable therapeutic approach for her. Since treatment can halt or even reverse the complications of homocystinuria, it was crucial that a diagnosis was reached and that the condition is now being managed.

Financial Disclosure:

None