Ophthalmic manifestations of keratitis–ichthyosis–deafness syndrome: a case report

Keratitis–ichthyosis–deafness syndrome (KID syndrome) is an extremely rare inherited form of genodermatosis characterized by a classic clinical triad: severe bilateral sensorineural hearing loss; cutaneous manifestations, including palmoplantar hyperkeratosis, keratoderma with skin granularity, nail dystrophy, alopecia, and ichthyosiform scaling; and vascularizing keratitis. Currently, approximately 100 cases of this disorder have been reported worldwide. Corneal involvement in KID syndrome is highly polymorphic regarding severity, extent, and degree of vascularization, ranging from early signs of limbal stem cell deficiency to severe total corneal opacification with active neovascularization. This variability complicates follow-up management and limits surgical treatment options for corneal leukoma in affected patients. This report presents the clinical features of KID syndrome in a 6-year-old boy, with emphasis on the spectrum of ophthalmic and dermatologic manifestations. Characteristic ocular changes associated with KID syndrome developed at a relatively early age and resulted in marked visual impairment due to loss of optical media transparency; these changes were partially reversible with timely administration of keratoprotective therapy. We describe a diagnostic protocol to evaluate visual function in patients with early and pronounced ocular manifestations of KID syndrome. At present, ophthalmic manifestations of KID syndrome remain one of the least studied aspects of the disease spectrum. A distinctive feature of this case is the earlier onset of ophthalmic manifestations compared with previously reported cases. The scientific base of such publications should be expanded to establish unified approaches to the monitoring and treatment of these patients, aiming to prevent irreversible vision loss.