Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa

Abstract

Purpose: To report a case of keratoglobus in a patient with autosomal recessive (AR) cutis laxa. Observations: A 38 year old male presented with decreased vision in both eyes uncorrectable with spectacles and a history of corneal rupture in the left eye from incidental trauma a decade prior. His ocular exam was consistent with keratoglobus. His medical and family history indicated AR cutis laxa. Conclusions and importance: We believe that this is the first reported case of keratoglobus associated with cutis laxa. Keywords: Keratoglobus, Cutis laxa, Ectasia, Cornea