%0 Journal Article
%T Ocular phenotype and therapeutic interventions in keratitis-ichthyosis-deafness (KID) syndrome.
%A Mc Lean K
%A Bignotti S
%A Callea M
%A Cammarata-Scalisi F
%A Steger B
%A Armstrong D
%A Lagan M
%A Sinton J
%A Semeraro F
%A Kaye SB
%A Romano V
%A Willoughby CE
%J Ophthalmic Genet
%V 45
%N 1
%D 2024 Feb 27
%M 37755702
%F 1.274
%R 10.1080/13816810.2023.2258218
%X UNASSIGNED: To report ocular manifestations, clinical course, and therapeutic management of patients with molecular genetically confirmed keratitis-ichthyosis-deafness syndrome.
UNASSIGNED: Four patients, aged 19 to 46, with keratitis-ichthyosis-deafness syndrome from across the UK were recruited for a general and ocular examination and GJB2 (Cx26) mutational analysis. The ocular examination 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.
UNASSIGNED: All four individuals had the characteristic systemic features of keratitis-ichthyosis-deafness syndrome. Each patient was found to have a missense mutation, resulting in the substitution of aspartic acid with asparagine at codon 50 (p.D50N). Main ophthalmic features were vascularizing keratopathy, ocular surface disease, hyperkeratotic lid lesions, recurrent epithelial defects, and corneal stromal scarring. One patient had multiple surgical procedures, including superficial keratectomies and lamellar keratoplasty, which failed to prevent severe visual loss. In contrast, oral therapy with ketoconazole stabilized the corneal and skin disease in two other patients with keratitis-ichthyosis-deafness syndrome. The patient who underwent intracorneal bevacizumab injection showed a marked reduction in corneal vascularization following a single application.
UNASSIGNED: Keratitis-ichthyosis-deafness syndrome is a rare ectodermal dysplasia caused by heterozygous mutations in GJB2 (Cx26) with a severe, progressive vascularizing keratopathy. Oral ketoconazole therapy may offer benefit in stabilizing the corneal and skin disease.