In vivo laser confocal microscopic findings of corneal stromal dystrophies.
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 beta-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.
Kobayashi
Akira
A
Department of Ophthalmology, Kanazawa University Graduate School of Medical Science, 13-1 Takara-machi, Kanazawa-shi, Ishikawa-ken 920-8641, Japan. kobaya@kenroku.kanazawa-u.ac.jp
Fujiki
Keiko
K
Fujimaki
Takuro
T
Murakami
Akira
A
Sugiyama
Kazuhisa
K
D000368:Aged; D000369:Aged, 80 and over; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis* / Q000235:genetics; D003319:Corneal Stroma / Q000473:pathology*; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D018613:Microscopy, Confocal; D008875:Middle Aged; D020125:Mutation, Missense; D015238:Sulfotransferases / Q000235:genetics; D016212:Transforming Growth Factor beta / Q000235:genetics; D000097811:Carbohydrate Sulfotransferases; D000099222:betaIG-H3 Protein
D016326:Extracellular Matrix Proteins; D015238:Sulfotransferases; D016212:Transforming Growth Factor beta; D000097811:Carbohydrate Sulfotransferases; D000099222:betaIG-H3 Protein