Severe Ocular Complications Of Keratoconus In A Child With Downs Syndrome And Autism: A Case Report

We present a case of a 14-year-old girl with autism who developed bilateral sight-threatening complications in association with late presentation of keratoconus. This report serves to outline the events, the extreme difficulty in managing her care in the setting of autism and the interventions required to restore functional vision. 

This girl who had been attending for regular ophthalmic care with myopia had a delay in presentation with keratoconus due to  COVID. Her past medical history includes severe developmental delay, non-verbal autism, and congenital heart disease. In the context of this patient’s disabilities, clinical examination in the outpatient setting was very challenging making recognition visual acuity assessment and corneal topography impossible. 

A comprehensive examination requiring general anaesthesia was performed. This confirmed bilateral advanced keratoconus with CCT of 272 OD and 230 OS. It was elected to proceed with corneal crosslinking (CXL) OD given the difficulties that would be associated with penetrating keratoplasty. A standard Epi off CXL was performed, a bandage CL was positioned, and post-operative antibiotic and steroid eye drops were administered. The eye subsequently developed Infectious keratitis which was culture negative and treated with intensive topical antibiotic drops. Due to delayed epithelialization, a lateral tarsorrhaphy was performed. This was not sufficiently effective as there was a persistent epithelial defect and corneal thinning. A third procedure consisting of an amniotic membrane transplantation and almost total tarsorrhaphy was performed. This last procedure resulted in epithelialization and following the opening of the tarsorrhaphy, there was a residual central corneal scar.

During the recovery period for the right eye, the mother reported a white spot on the left cornea and clinical examination revealed acute hydrops. This was managed medically, and the child now has bilateral central corneal scars. She has functional vision with the help of atropine 1%  drops on alternate days to both eyes and her parents report that she is back to her baseline visual abilities.

Our case report highlights the need for vigilance in screening patients with Downs Syndrome for keratoconus with consideration for early intervention with CXL. The additive difficulties of Autism and the need for repeated examination under anaesthesia in preparation for surgery and treatment created a significant burden for the patient and her parents.