Granular corneal dystrophy: slitlamp biomicroscopic appearances in three generations of patients.
OBJECTIVE
The purpose of this case series is to show photographically the varying clinical appearance of granular corneal dystrophy in three generations of one family and to review the genetic basis of this and related conditions.


METHODS
We present cases for four affected individuals along with slitlamp biomicroscopic photographs.


CONCLUSIONS
A review of the photographs and the literature suggests that the abnormal keratoepithelin first appears in the superficial cornea as faint subepithelial opacities. With time, these become arranged in the curved lines of a vortex pattern, after which the deposits become scattered in no particular pattern and at all levels of the cornea. In this family, corneal erosions are a regular feature. Mutations of the gene coding for keratoepithelin (beta ig-h3) may give rise to variable clinical manifestations.
School of Optometry, University of Waterloo, Ontario, Canada. williams@sciborg.uwaterloo.ca
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Williams
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Lyle
D000293:Adolescent; D000328:Adult; D002648:Child; D003315:Cornea / Q000473:pathology; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010781:Photography