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.
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.