An unexpected finding of keratoglobus in down syndrome: a rare case report

Abstract

Purpose: To present a case of unexpected bilateral keratoglobus in a 12-year-old male patient with Down syndrome. Methods: Case report. Results: We describe a case of a 12-year-old male with Down syndrome who was consulted to our centre for evaluation of buphthalmos, initially suspected to be infantile glaucoma. He had a history of missed ophthalmologic follow-ups for bilateral astigmatism since the age of seven. Over the past three years, his mother had observed a progressive bulging of both eyes and recurrent tearing. A comprehensive ophthalmic examination under anaesthesia was performed. Examination findings revealed diffuse, globular-shaped corneas with deep anterior chambers bilaterally and diffuse corneal thinning, consistent with a diagnosis of keratoglobus. Additionally, bilateral horizontal lower corneal scarring was noted. Intraocular pressure was within normal limits in both eyes. No clinical features suggestive of connective tissue disorders were present. Conclusion: Keratoglobus is a rare and often underrecognized form of corneal ectasia, characterised by diffuse corneal thinning and globular protrusion. Early detection and awareness of this condition are essential for guiding appropriate management and mitigating potential complications, particularly in the paediatric population.