Graefes Arch Clin Exp Ophthalmol
July 2006
Purpose: We report a case of periocular subcutaneous macrofilariasis as an initial sign of a systemic Loa loa infection.
Methods: Thorough history, eye examination and surgical intervention. Parasitological and serological analysis.
Keratitis-Ichthyosis-Deafness syndrome is a rare congenital disorder of the ectoderm caused by mutations in the connexin-26 gene (GJB2) on chromosome 13q11-q12, giving rise to keratitis, erythrokeratoderma and neurosensory deafness. We report the case of a 31-year-old black male diagnosed as having KID syndrome. Sequencing analysis showed a heterozygous missense mutation D50N (148G > A) in the GJB2 gene.
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