variations and complications of Coats disease in 150

A novel mutation of the TGFBI gene causing a lattice corneal dystrophy with deep stromal involvement Lattice corneal dystrophy (LCD) type I is one of the five dominant TGFBI (trans-formimg growth factor b induced; formerly designated as bigh3 or keratoepithelin)-related corneal dystrophies with character-istic lattice-like refractile lines in the corneal stroma.1 Other than this common-type LCD, there have also been reported several minor-type LCDs caused by different mutations of the TGFBI gene.2 CASE REPORT An 85-year-old man presented with complaints of bilateral blurred vision. His best-corrected visual acuity was 0.1 in OD and HM/30 cm in OS. He had bilateral corneal haze and cataract. The corneal haze contained many isolated or fused refractile opacities, most of them being dot-like, and some being lattice-like (figure 1A). The opacities were found at all depths of the corneal stroma, but mainly involved the deep stromal layer. The degree of corneal haze was severe in his left eye, but relatively mild in his right eye. His wife and two sons did not show any corneal opacity in their eyes. Cataract surgery was performed on his left eye, but his best-corrected visual acuity in that eye was improved only to 0.02, possibly due to the severe corneal haze. The sequencing analysis revealed that the patient had a heterozygous c.1486C>T nucleotide change in exon 11, producing a p. Arg496Trp amino acid alteration (figure 2AeC). None of his family members presented the c.1486C>T nucleotide change (data not shown), indicating that the geno-type well cosegregates with the phenotype in this pedigree. The splice-donor and acceptor sites for each exon of the TGFBI gene did not present any nucleotide changes. Genomic DNAs from 96 normal Japanese volunteers (48 males and 48 females) did not present the c.1486C>T nucleotide change (data not shown)