Individual phenotypic variances in a family with Thiel-Behnke corneal dystrophy.

Purpose: To diagnose Thiel-Behnke dystrophy, an autosomal dominant disease of the anterior basement membrane/Bowman membrane complex and corneal stroma, currently relies primarily on the overall clinical presentation of patient complaints, inheritance pattern, and physical appearance of the corneal findings on slit-lamp examination. Key challenges to accurately identifying the disease are variable and often obscured morphology caused from secondary scarring, creating phenotypic deviation from the "classical" presentation, and mimicry of characteristics typical of other closely related dystrophies. In this report, we demonstrate the high degree of phenotypic variability that can be found in this disease.