Ophthalmological abnormalities in syndromic or nonsyndromic epidermal differentiation disorders: a cross-sectional study

This comparative case–control study aimed to evaluate the incidence of keratoconus and other ophthalmological abnormalities in patients with epidermal differentiation disorders (EDDs; formerly known as congenital ichthyoses) compared with controls. Included in the study were 72 patients with EDDs and 72 sex-matched controls. Keratoconus rates were similar between groups, but other ocular complications, including corneal anomalies, dry eye, eyelid abnormalities, ocular symptoms, low visual acuity and reduced vision-related quality of life, were significantly more frequent in patients with EDDs.