Meesmann corneal dystrophy

Definition:

Meesmann corneal dystrophy is an early-onset disorder of the corneal epithelium caused by heterozygous mutations in KRT3 or KRT12 gene. It presents as ocular irritation but some patients may remain asymptomatic for many years. Characteristic intraepithelial cysts on the anterior cornea are observed. Most cases are inherited as autosomal dominant traits.

References:

[1]. Frances Smith, et al. The molecular genetics of keratin disorders. Am J Clin Dermatol. 2003;4(5):347-64. [Content Brief]

[2]. Niels Ehlers, et al. Phenotypic variability in Meesmann's dystrophy: clinical review of the literature and presentation of a family genetically identical to the original family. Acta Ophthalmol. 2008 Feb;86(1):40-4. [Content Brief]

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