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A novel mutation of the TGFBI gene causing a lattice corneal dystrophy with deep stromal involvement
  1. Satoshi Kawasaki1,
  2. Hidekazu Yagi2,
  3. Kenta Yamasaki1,
  4. Akira Matsuda3,
  5. Kazunori Takeda2,
  6. Shigeru Kinoshita1
  1. 1Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan
  2. 2Maizuru Red Cross Hospital, Kyoto, Japan
  3. 3Department of Ophthalmology, Juntendo University, Tokyo, Japan
  1. Correspondence to Dr Satoshi Kawasaki, Department of Ophthalmology, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Hirokoji-agaru, Kawaramachi-dori, Kamigyo-ku, Kyoto 602-0841, Japan; bluenova{at}koto.kpu-m.ac.jp

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Lattice corneal dystrophy (LCD) type I is one of the five dominant TGFBI (transformimg growth factor β induced; formerly designated as bigh3 or keratoepithelin)-related corneal dystrophies with characteristic 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 …

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