The Many Manifestations Of Aniridia - Ocular And Systemic

The purpose of this clinical case report is to point out the various manifestations associated with congenital aniridia and how we can proceed surgically in these cases.

We describe the case of a nineteen-year-old boy from Delhi, India.

He is a caterer by profession and presented to our outpatient department with complaints of blurring of vision and monocular double vision from his left eye, aggravated for the last three months. He also had the history of repetitive eye movements in both eyes since childhood as well as coloured halos since the last three months 

On careful examination, the patient was observed to have pendular nystagmus, on anterior segment evaluation there was complete hypoplasia of the iris in both eyes and a rudimentary stump was noted on gonioscopic evaluation of both eyes. His intraocular pressure was also high, suggestive of some degree of trabeculodysgenesis. The anterior chamber depth was normal. His right eye had been operated on for cataract before and a three-piece PMMA IOL was placed in the capsular bag. On examination of his left eye, there was an anterior subcapsular cataract which was subluxated more than seven clock hours superiorly. Refraction testing revealed a visual acuity of 20/200 which was not improving, and subsequently, fundus examination revealed that there was an absence of a foveal reflex, along with glaucomatous changes in the optic disc. 

This patient had to be taken up for surgery for the subluxated cataract of his left eye and an ICCE with through anterior vitrectomy had to be done for this patient. The patient was given an option for iris prosthesis or aniridia lenses which he could not afford and thus was made to wear contact lenses after his aphakia in the left eye. However, patients with aniridia do have a propensity for dry eye and keratopathy and so the patient is willing to manage his photophobia with dark glasses.

Aniridia can be isolated or associated with systemic conditions like WAGR syndrome and Gillespie Syndrome, features of which have to be ruled out while examining these patients. A good general physical and systemic examination is imperative. Along with the striking features of aniridia, gonioscopy is an essential tool to rule out the rotation of the iris root stump causing secondary angle closure. Glaucoma in these patients is difficult to manage. The fundus also has to be carefully examined to rule out optic disc and foveal hypoplasia, which will of course make our visual prognosis guarded.