Ocular phenotype and therapeutic interventions in keratitis-ichthyosis-deafness (KID) syndrome

CONCLUSIONS: 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.PMID:37755702 | DOI:10.1080/13816810.2023.2258218

Source: Ophthalmic Genetics - September 27, 2023 Category: Opthalmology Authors: Keri Mc Lean Stefano Bignotti Michele Callea Francisco Cammarata-Scalisi Bernhard Steger David Armstrong Maeve Lagan Janet Sinton Francesco Semeraro Stephen B Kaye Vito Romano Colin E Willoughby Source Type: research