Corneal Surface Alterations In Cockayne Syndrome

Cockayne syndrome is a rare autosomal recessive disorder classified among progeroid syndromes due to its association with premature aging and multisystem involvement. Patients often present with severe ophthalmological manifestations, including progressive pigmentary retinopathy, cataracts, recurrent corneal erosions, and exposure-related complications. This report describes a case of corneal surface defects successfully managed with autologous fibrin clot application and platelet-rich plasma eye drops

This case was managed at the Ophthalmology Department of a tertiary hospital in Madrid, Spain, specializing in corneal and ocular surface diseases

We present the case of an 18-year-old female from the Dominican Republic with Cockayne syndrome confirmed by genetic testing (ERCC8 pathogenic variants). She exhibited characteristic features such as microcephaly, growth retardation, neurodevelopmental delay, and severe feeding difficulties requiring gastrostomy. She was referred to ophthalmology due to persistent corneal surface defects despite continuous lubrication therapy.

At the first visit, the patient presented with palpebral malocclusion, inferior pannus, and paracentral leucoma in both eyes. A deep stromal corneal ulcer in the right eye and severe superficial keratitis in the left eye were identified. Given the ulcer’s severity, surgical intervention was performed, applying an autologous fibrin clot over the right eye’s ulcer. Postoperatively, platelet-rich plasma eye drops and tobramycin/dexamethasone were prescribed, leading to complete ulcer resolution on follow-up

Cockayne syndrome is a rare multisystemic disorder with significant ocular involvement, often requiring specialized corneal management. Despite continuous lubrication, our patient developed severe corneal exposure-related defects that responded well to fibrin clot application and platelet-rich plasma eye drops. Regular corneal integrity assessments in these patients are essential to prevent complications such as infections, scarring, or perforation. Hemoderivative therapies may be a useful option for refractory corneal surface defects