Document Detail

In vivo laser confocal microscopic findings of corneal stromal dystrophies.
MedLine Citation:
PMID:  17846354     Owner:  NLM     Status:  MEDLINE    
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.
Akira Kobayashi; Keiko Fujiki; Takuro Fujimaki; Akira Murakami; Kazuhisa Sugiyama
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Archives of ophthalmology     Volume:  125     ISSN:  0003-9950     ISO Abbreviation:  Arch. Ophthalmol.     Publication Date:  2007 Sep 
Date Detail:
Created Date:  2007-09-11     Completed Date:  2007-10-04     Revised Date:  2007-10-30    
Medline Journal Info:
Nlm Unique ID:  7706534     Medline TA:  Arch Ophthalmol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1168-73     Citation Subset:  AIM; IM    
Department of Ophthalmology, Kanazawa University Graduate School of Medical Science, 13-1 Takara-machi, Kanazawa-shi, Ishikawa-ken 920-8641, Japan.
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MeSH Terms
Aged, 80 and over
Corneal Dystrophies, Hereditary / diagnosis*,  genetics
Corneal Stroma / pathology*
Exons / genetics
Extracellular Matrix Proteins / genetics
Microscopy, Confocal*
Middle Aged
Mutation, Missense
Sulfotransferases / genetics
Transforming Growth Factor beta / genetics
Reg. No./Substance:
0/Extracellular Matrix Proteins; 0/Transforming Growth Factor beta; 148710-76-3/betaIG-H3 protein; EC 2.8.2.-/Sulfotransferases; EC 2.8.2.-/carbohydrate sulfotransferases

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