Confocal microscopy and optical coherence tomography imaging of hereditary granular dystrophy☆
published online 30 November 2009.
Abstract
Objectives
This case report examines the clinical characteristics of hereditary granular dystrophy through the use of slit lamp digital photography, confocal microscopy (CM) and optical coherence tomography (OCT). A review of the literature describing the histopathological and genetic associations of stromal dystrophies, suggest it may be possible to differentiate dystrophies based on their clinical manifestations, and appearances of CM and OCT images, with or without the use of genetic testing.
Case Report
Two sisters, previously diagnosed with Granular (Groenouw I) Dystrophy, were examined. Examination included the use of digital slit lamp photography, CM and OCT imaging.
Results
“Breadcrumb” opacities were visualized in the anterior two-thirds of the stroma with all three imaging techniques. Opacities were demonstrated in the posterior third of the stroma with the digital photography and OCT techniques.
Conclusions
The digital photography, CM and OCT images support the sister's diagnosis of Granular (Groenouw I) Dystrophy. Currently, genetic and histopathological testing are the only techniques available to determine exactly which corneal dystrophy and gene mutation are present. The results of this case report demonstrate that slit lamp digital photography, combined with CM and OCT may be capable of providing sufficient diagnostic information to diagnose corneal granular dystrophies in a clinical setting.
aSchool of Optometry, University of Waterloo, Waterloo, Ontario, Canada
bCenter for Contact Lens Research, University of Waterloo, Ontario, Canada
Corresponding author at: Center for Contact Lens Research, School of Optometry, University of Waterloo, 200 University Ave West, Waterloo, ON, Canada N2L 6E3. Tel.: +519 888 4567x35030; fax: +519 884 8769.
☆ This manuscript was produced through work conducted as part of a Cornea and Contact Lens Residency Program at the University of Waterloo, Ontario, Canada.
ABSTRACT