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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

Kojima, Yoshinao MD; Inoue, Tomoyuki MD; Hori, Yuichi MD; Maeda, Naoyuki MD; Nishida, Kohji MD

doi: 10.1097/ICO.0b013e31829b32ea
Case Report

Purpose: 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.

*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.

Reprints: Tomoyuki Inoue, Department of Ophthalmology, Ehime University School of Medicine, Shitsukawa, Toon-City, Ehime 791-0295, Japan (e-mail:

The authors have no funding or conflicts of interest to disclose.

Received August 31, 2012

Accepted May 08, 2013

Copyright © 2013 Wolters Kluwer Health, Inc. All rights reserved.