alexa 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.
Genetics & Molecular Biology

Genetics & Molecular Biology

Journal of Genetic Syndromes & Gene Therapy

Author(s): Kojima Y, Inoue T, Hori Y, Maeda N, Nishida K

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Abstract 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. This article was published in Cornea and referenced in Journal of Genetic Syndromes & Gene Therapy

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