[Kerato-epithelin mutation (R 555 Q) in a case of Reis-Bücklers corneal dystrophy].

Abstract excerpt

BACKGROUND: Mutations in the kerato-epithelin gene on chromosome 5 q 31 are known to cause four distinct autosomal dominant diseases of the human cornea: Reis-Bücklers, granular, lattice, and Avellino corneal dystrophy. Mutation of arginin to glutamine in codon 555 (R 555 Q) in kerato-epithelin was recently reported in four blood-related patients with Reis-Bücklers corneal dystrophy. CASE: A 42 year-old female...

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