Corneal Dystrophy, Lattice Type I Clinical CharacteristicsOcular Features: Lattice corneal dystrophy type I is one of the more common corneal dystrophies and occurs throughout the world. Randomly oriented linear opacities resembling cotton threads accumulate in the central portions of the stroma. These usually become apparent in the first decade of life although they are sometimes seen in infancy. The peripheral cornea is relatively spared and intervening stromal areas are clear. This is a progressive disorder in which vision during childhood is often normal but by the fifth and sixth decades most patients have severe visual impairment due to increasing accumulations of amyloid. Corneal erosions may occur in the absence of stromal infiltrates. Systemic Features: No systemic disease is found in LCD1 (as opposed to LCD type II). GeneticsType I lattice dystrophy is an autosomal dominant disorder as the result of mutations in the TGFBI gene (5q31). Other corneal dystrophies (granular I or Groenouw type I, combined granular/lattice or Avellino type, Thiel-Behnke, Reis-Bucklers, epithelial basement membrane disease) have mutations in the same region of the same gene casting doubt on the value of using solely clinical and histologic distinctions in current classifications of these corneal disorders. Pedigree: Autosomal dominantTreatmentTreatment Options: Recurrent corneal erosions benefit from standard treatments while penetrating keratoplasty may be necessary by the fifth decade to improve acuity. ReferencesArticle Title: Three autosomal dominant corneal dystrophies map to chromosome 5q Stone EM, Mathers WD, Rosenwasser GO, Holland EJ, Folberg R, Krachmer JH, Nichols BE, Gorevic PD, Taylor CM, Streb LM, et al. Three autosomal dominant corneal dystrophies map to chromosome 5q. Nat Genet. 1994 Jan;6(1):47-51. PubMed ID: 8136834 Molecular properties of wild-type and mutant betaIG-H3 proteins Kim JE, Park RW, Choi JY, Bae YC, Kim KS, Joo CK, Kim IS. Molecular properties of wild-type and mutant betaIG-H3 proteins. Invest Ophthalmol Vis Sci. 2002 Mar;43(3):656-61. PubMed ID: 11867580 Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene Aldave AJ, Gutmark JG, Yellore VS, Affeldt JA, Meallet MA, Udar N, Rao NA, Small KW, Klintworth GK. Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene. Am J Ophthalmol. 2004 Nov;138(5):772-81. PubMed ID: 15531312 Read more about Corneal Dystrophy, Lattice Type I
Three autosomal dominant corneal dystrophies map to chromosome 5q Stone EM, Mathers WD, Rosenwasser GO, Holland EJ, Folberg R, Krachmer JH, Nichols BE, Gorevic PD, Taylor CM, Streb LM, et al. Three autosomal dominant corneal dystrophies map to chromosome 5q. Nat Genet. 1994 Jan;6(1):47-51. PubMed ID: 8136834
Molecular properties of wild-type and mutant betaIG-H3 proteins Kim JE, Park RW, Choi JY, Bae YC, Kim KS, Joo CK, Kim IS. Molecular properties of wild-type and mutant betaIG-H3 proteins. Invest Ophthalmol Vis Sci. 2002 Mar;43(3):656-61. PubMed ID: 11867580
Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene Aldave AJ, Gutmark JG, Yellore VS, Affeldt JA, Meallet MA, Udar N, Rao NA, Small KW, Klintworth GK. Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene. Am J Ophthalmol. 2004 Nov;138(5):772-81. PubMed ID: 15531312
