CATARACT ON CONGENITAL ANIRIDIA IN A CHILD

Congenital aniridia is a very rare condition characterised by iris hypoplasia. It may be isolated or associated with other ocular disorders (corneal dystrophy, glaucoma, congenital cataract, lens ectopia, macular and optic nerve hypoplasia) and/or systemic disorders (WAGR syndrome).

We report a rare case of bilateral congenital aniridia associated with a bilateral ectopic cataract.

This is a 10-year-old child, the only child of his parents, referred for a progressive decline in bilateral visual acuity with intense photophobia. His history included first-degree parental consanguinity, a normal course of pregnancy and childbirth, and a history of visual impairment dating back to early childhood. His visual acuity was reduced in both eyes to counting fingers at 3 metres, with horizontal nystagmus. The ophthalmological examination revealed the following in both eyes: a clear cornea, subtotal aniridia with persistence of an upper iridal flange, an upward ectopic nuclear cataract and normal ocular tone . Bilateral fundus examination revealed a flat retina with loss of foveolar reflex. The patient's general examination revealed no urogenital abnormalities or psychomotor retardation, and the renal ultrasound was normal.

The patient underwent phacophagia with anterior vitrectomy and intracapsular implantation of a rigid PMMA implant in both eyes at two-week intervals . The early post-operative course was straightforward, with mild corneal edema and no hypertonia. For the treatment of aniridia, artificial iris implants or rings were not available, and a colored contact lens was proposed. Patient follow-up revealed no implant dislocation, and amblyopia management was considered.

Congenital aniridia is a rare anomaly of iris development. Aniridia may be isolated or associated with other ocular disorders (glaucoma, corneal dystrophy, congenital cataract, lens ectopia, macular and optic nerve hypoplasia) and systemic disorders, particularly urogenital (WAGR syndrome). Aniridia runs in families in two-thirds of cases, and is inherited in an autosomal dominant fashion, with almost complete penetrance but variable expression. The absence of the iris curtain leads to an increase in the amount of light penetrating the eye, with significant optical aberrations and very annoying glare. Lens anomalies are frequently associated with aniridia, and cataracts develop in 50% to 85% of patients. Lens ectopia may be seen in 50% of cases, linked to severe zonular fragility.

Congenital aniridia is a rare condition, often bilateral. Our case illustrates the clinical aspect of this rare condition and the difficulty of its management. We emphasise the importance of genetic counselling in the management of this condition, particularly in the presence of familial cases.