Congenital Bilateral Aniridia with Ectopia Lentis: A Case Report

Abstract

Aniridia is characterised by variable degrees of hypoplastic iris or complete absence of iris tissue and is a rare congenital disorder. Mutation in the PAX6 gene is mostly responsible for aniridia. It is associated with various ocular manifestations involving both anterior and posterior segments of the eye. A 14-year-old male patient, presented to the ophthalmology outpatient department with complaints of a gradual decrease in vision in his left eye. Upon examination, photophobia and bilateral aniridia associated with nystagmus were present in both eyes, along with a sclerally fixated intraocular lens in the right eye and a superiorly subluxated mature cataract in the left eye. Intraocular pressure was elevated in the left eye. Gonioscopy revealed rudimentary iris tissue in both eyes. Upon systemic examination, the patient was diagnosed with hydro-ureteronephrosis of the right-side, which was asymptomatic, and borderline intellectual functioning. This case highlights the unique features of WAGR syndrome (Wilm’s tumour, Aniridia, Genito-urinary anomalies, Range of developmental delay) presenting with aniridia and genito-urinary conditions, along with borderline intellectual functioning without the presentation of Wilm’s tumour. Cataract extraction by lens aspiration with scleral fixation of intraocular lens implantation was performed in the left eye. This study adds to the broader knowledge of the disease entity’s spectrum, exploring the diagnostic challenges associated with the case and potentially influencing diagnostic criteria. It may guide future studies exploring the diverse clinical presentations of WAGR syndrome.

Keywords

• cataract
• glaucoma
• genetics
• syndrome