Ocular Manifestations, Treatment Outcome and Clinical Course of Infective Keratitis of Keratitis-Ichthyosis-Deafness Syndrome

Purpose: To report the ocular manifestations and treatment outcomes of infective keratitis in a patient with keratitis-ichthyosis-deafness (KID) syndrome and to report a newly discovered mutation in the GJB2 gene in Korea. Case summary: A 32-month-old boy was referred to the Ophthalmology Clinic for bilateral corneal opacity and glare. The patient showed alopecia, hyperkeratotic skin in both limbs, and hearing loss in both ears. Ocular examination showed loss of eyebrows and eyelashes, hyperkeratotic lesions of the eyelids, mucopurulent discharge in the eyelids, and opacity and scarring with superficial vascularization and conjunctivalization in both corneas. Molecular analysis showed a pathogenic variant in the GJB2 gene and confirmed the diagnosis of KID syndrome. Superficial keratectomy and amniotic membrane transplantation were performed in both eyes. Corneal opacity recurred in the left eye; treatment with bevacizumab eyedrops was instituted and penetrating keratoplasty was performed in the left eye. Corneal stromal opacity relapsed in the left eye; 5% vancomycin and 5% ceftazidime eyedrops were started and methicillin-resistant Staphylococcus aureus was cultured from a corneal scraping specimen. Conclusions: A careful observation of ocular manifestations in KID syndrome is needed to prevent infective keratitis and limbal cell deficiency; intensive antibiotic eyedrop treatment is recommended to prevent permanent visual impairment.