Keratopathy in Noonan Syndrome

Anterior segment abnormalities associated with Noonan syndrome are rare. We report our experience with 2 patients who developed keratopathy with significant visual sequelae.

case series.

The first patient is a 9-year-old boy with genetically confirmed Noonan syndrome. At presentation, he was noted to have diffuse inferior epitheliopathy with vascularization and bilateral mild ptosis. Over 1 year, he developed focal areas of scarring with deterioration of vision and underwent superficial keratectomy in the left eye. However, over the following 2 years, he experienced recurrent corneal scarring and vascularization. The second patient is a 7-year-old boy with phenotypic Noonan syndrome. At presentation, he had an anterior subepithelial corneal scar inferiorly with epithelial defects in both eyes. He also had bilateral moderate ptosis and lagophthalmos. Despite lubrication, he developed recurrent bilateral corneal erosions with focal areas of scarring associated with vascularization and underwent superficial keratectomy for both eyes. Despite this, there was worsening corneal scarring and vascularization over time, eventually requiring deep anterior lamellar keratoplasty in the left eye. The host cornea showed a disturbed Bowman layer and an acellular mass of fibrous collagenous tissue between epithelium and stroma.

Noonan syndrome may be associated with visually significant keratopathy, manifesting as focal corneal scarring with vascularization. These changes may due to an excessive fibrotic response in Noonan syndrome. Early recognition and treatment can help to delay the progression of keratopathy and need for surgical intervention.