Visual impairment reversal with oral acitretin therapy in keratitis-ichthyosis-deafness (KID) syndrome

Keratitis-ichthyosis-deafness (KID) syndrome is a rare genodermatosis with approximately 100 published cases. Although it is classified as an autosomal dominant disorder, more than 90% of cases are caused by sporadic mutations predominantly in gap junction protein β2 (GJB2) on chromosome 13q11-q12 (OMIM 148210). GJB2 encodes connexin 26, a gap junction protein, which plays a role in epithelial differentiation.1 The characteristic clinical triad includes bilateral sensorineural hearing loss, vascularizing keratitis, and erythrokeratoderma.