title: Unilateral Variant of Late-Onset Lattice Corneal Dystrophy With the Pro501Thr Mutation in the TGFBI Gene Without Deposits in the Unaffected Cornea Using Confocal Microscopy.
abstract: OBJECTIVE
  To report a case of a unilateral variant of late-onset lattice corneal dystrophy (LCD) with the Pro501Thr mutation in the TGFBI gene with unilaterality confirmed by confocal microscopy.
  
  
  METHODS
  Case report. A 58-year-old man presented with visual impairment in his left eye of 20-year duration. Clinical examinations, molecular genetic analysis, and laser confocal microscopic analysis were performed.
  
  
  RESULTS
  The slit-lamp examination showed thick branching lattice lines in the left corneal stroma with radial orientation. The right eye was asymptomatic and appeared normal without deposition or opacification. Laser confocal microscopy showed that highly reflective deposits or lattice-shaped materials in the left cornea were not present in the right cornea, confirming the complete unilaterality of this disease. Molecular genetic analysis confirmed the Pro501Thr mutation in the TGFBI gene previously associated with LCD type IIIA. No other mutations were found in this gene. No mutations in the lactoferrin gene previously associated with secondary amyloidosis were identified.
  
  
  CONCLUSIONS
  The authors present a unilateral variant of late-onset LCD with a heterozygous Pro501Thr mutation in the TGFBI gene. No corneal deposits seen in the affected cornea were found in the unaffected cornea even by laser confocal microscopic analysis.
authors.affiliation: *Department of Ophthalmology, Yukioka Hospital, Osaka, Japan; †Department of Ophthalmology, Ehime University School of Medicine, Ehime, Japan; ‡Department of Ophthalmology, Toho University Sakura Medical Center, Sakura, Japan; and §Department of Ophthalmology, Osaka University Medical School, Suita, Japan.
authors.forename: Yoshinao
authors.initials: Y
authors.lastname: Kojima
authors.forename: Tomoyuki
authors.initials: T
authors.lastname: Inoue
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Hori
authors.forename: Naoyuki
authors.initials: N
authors.lastname: Maeda
authors.forename: Kohji
authors.initials: K
authors.lastname: Nishida
mesh_terms: D019943:Amino Acid Substitution; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D018613:Microscopy, Confocal; D008875:Middle Aged; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D016212:Transforming Growth Factor beta / Q000235:genetics*; D000099222:betaIG-H3 Protein
chemical_list: D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein