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David Armstrong, Maeve Lagan, Janet Sinton, Stephen Kaye, Colin Willoughby; Ocular Phenotype and Therapeutic Interventions in the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome. Invest. Ophthalmol. Vis. Sci. 2013;54(15):3873.
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The purpose of the study was to report the ocular manifestations, the clinical course, and the therapeutic management of four patients with KID syndrome who had a molecular diagnosis.
Four patients with KID syndrome (KID ; MIM148210) from across the UK were recruited for a general and ocular examination and GJB2 (Cx26) mutational analysis. The ocular assessment included best corrected visual acuity, slit lamp bio-microscopy and ocular surface assessment. Mutational analysis of the coding region of GJB2 (Cx26) was performed by bidirectional Sanger sequencing. Specific therapeutic interventions using oral ketaconazole were performed in 2 patients supplemented with sub-conjunctival bevacizumab injection in one patient.One patient received both sub conjunctival and intracorneal bevacizumab.
All four affected individuals had the characteristic systemic features of KID syndrome. Main ophthalmic features were vascularising keratopathy, ocular surface disease, hyperkeratotic lid lesions, recurrent epithelial defects and corneal stromal scarring. Each patient was found to have missense mutation in KID syndrome, which results in substitution of aspartic acid with asparagine at codon 50 (p.D50N). In one patient, multiple surgical procedures, including superficial keratectomies and lamellar keratoplasty, failed to prevent severe visual loss. In contrast, oral therapy with ketaconzole stabilised the corneal and skin disease in two other patients with KID syndrome. The patient who underwent intracorneal bevacizumab injection showed a marked reduction in corneal vascularisation following a single application.
KID syndrome is a rare ectodermal dysplasia caused by heterozygous mutations in GJB2 (Cx26) with a severe, progressive vascularising keratopathy. It has been suggested that oral ketoconazole therapy may play a role in the prevention of KID syndrome associated corneal disease, in contrast to surgical procedures which have a high failure rate. Oral ketaconazole therapy offers benefit in stabilising the corneal and skin disease and further studies in a larger series of patients is warranted. The role of sub-conjunctival bevacizumab has not been established, however the intracorneal injection of bevacizumab appears to have localised benefit with decreased corneal vascularisation in one patient.
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