Article
Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome.
Ophthalmology - 1 Feb 2005
Messmer E M, Kenyon K R, Rittinger O, Janecke A R, Kampik A
Abstract excerpt
OBJECTIVE: Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal dysplasia characterized by the association of hyperkeratotic skin lesions, moderate to profound sensorineural hearing loss and vascularizing keratitis. Mutations in the GJB2 gene coding for connexin 26, a component of gap junctions in epithelial cells, have been observed in several KID patients. Variable ocular manifestations...
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