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Akira Kobayashi, MD, PhD; Keiko Fujiki, PhD; Takuro Fujimaki, MD, PhD; Akira Murakami, MD, PhD; Kazuhisa Sugiyama, MD, PhD

Arch Ophthalmol. 2007;125(9):1168-1173.

Objective  To investigate in vivo laser confocal microscopic findings of genetically mapped corneal stromal dystrophies and their relationship to histopathologic findings.

Methods  Seven patients with Avellino corneal dystrophy, 2 patients with lattice corneal dystrophy, and 2 patients with macular corneal dystrophy were examined genetically and using slitlamp biomicroscopy and in vivo laser confocal microscopy. Corneal specimens obtained after surgery in selected patients were histopathologically studied.

Results  In Avellino corneal dystrophy (Arg124His mutation of human transforming growth factor β–induced gene [TGFBI]), highly reflective granular materials with irregular edges were observed in the superficial stroma. In lattice corneal dystrophy (Arg124Cys and Leu527Arg mutations of TGFBI), highly reflective branching filaments of variable width were observed in the stroma. In macular corneal dystrophy (Ala217Thr mutation of the carbohydrate sulfotransferase gene [CHST6]), homogeneous reflective materials with dark striaelike images were observed throughout the stroma. All confocal findings correlated well with histopathologic findings.

Conclusions  In vivo laser confocal microscopy is capable of high-resolution visualization of characteristic corneal microstructural changes related to 3 types of genetically mapped corneal stromal dystrophies. The use of laser confocal microscopy may be valuable in the differential diagnosis of corneal stromal dystrophies, especially when diagnosis is otherwise uncertain.

Author Affiliations: Department of Ophthalmology, Kanazawa University Graduate School of Medical Science, Kanazawa (Drs Kobayashi and Sugiyama), and Department of Ophthalmology, Juntendo University School of Medicine, Tokyo (Drs Fujiki, Fujimaki, and Murakami), Japan.

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