ABSTRACT
Corneal dystrophy causes visual impairment by interfering with corneal transparency and is subdivided into the granular and the lattice type of corneal dystrophy. Lattice corneal dystrophy types II, III, and IIIA represent additional variations of lattice corneal dystrophy with a distinct mode of inheritance and/or clinical features. In all cases, a keratoplasty is frequently required for visual rehabilitation. Studies of the molecular basis of the corneal dystrophies have revealed that most reported cases of corneal dystrophies are caused by amino acid substitutions within the transforming growth factor-beta-induced gene, located on the long arm of chromosome 5. The biopsies obtained from the cornea showed large patchy deposits of homogenous eosinophilic material with the green birefringence in poalrized light after Congo red staining characteristic for amyloid. The chapter describes a novel single nucleotide substitution, which would result in a replacement of phenylalanine by serine at this position. This mutation is thought to cause abnormal folding and precipitation of the encoded protein, keratoepithelin.
