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Corneal dystrophies have traditionally been defined as bilateral, symmetric disorders that, with a few notable exceptions, are associated with autosomal dominant inheritance and complete penetrance. The characteristic clinical phenotype of each dystrophy typically allows unambiguous distinction between different corneal dystrophies and between dystrophic and non-dystrophic corneal disorders. However, cases of unilateral and markedly asymmetric dystrophic deposits have been reported,1–4 as have affected individuals without a family history who have been shown to possess spontaneous mutations in TGFBI.5 Additionally, significant inter- and even intra-familial phenotypic variability between individuals sharing the same TGFBI mutation have also been reported, challenging the ability of the clinician to rely upon the clinical phenotype to diagnose and classify such dystrophies.6 Thus, molecular genetic analysis is particularly helpful to confirm or refute the diagnosis of a presumed TGFBI dystrophy in cases associated with atypical clinical features, such as the delayed development of corneal deposits, unilateral or asymmetric involvement, deposits demonstrating unusual morphological features, or a negative family history.7 We report …
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