gms | German Medical Science

A 17-year-old dystrophic male patient with severe mental deficit, small height, absent speech development and preterminal renal insufficiency shows a missense mutation in exon 15 of the OCRL 1 gene. He presented in our department because of increasing pain and foreign body sensation in the left eye. In the past, binocular cataract extractions and iridectomies were performed for congenital cataract and congenital glaucoma necessitated cyclophotocoagulation twice.

Visual acuity was reduced to light localization OD and light perception OS. The intraocular pressure was controlled with local antiglaucoma treatment. The left eye showed an almost pancorneal, vascularized, prominent lesion which could be distinguished from the underlying cornea by ultrasound biomicroscopy. The histological examination of the excised lesion disclosed a collagenous tumor covered by nonkeratinized stratified epithelium with multiple small vessels in the subepithelial space. Postoperatively, the patient's complaints subsided.

This patient has Lowe syndrome with associated corneal keloid. Keloidal lesions of the cornea are often seen with this systemic disease and may lead to severe symptoms due to defect lid closure and insufficient lubrication of the ocular surface. Excision of these lesions is feasible in cases with an adequate corneal lamella underlying the tumor. Moreover, surgery may significantly ameliorate subjective symptoms.