Purchase this article with an account.
F.T. Li, M. Macsai, X. Zhao, R.W. Yee; Individual Phenotypic Variances in a Family with Theil-Behnke Corneal Dystrophy . Invest. Ophthalmol. Vis. Sci. 2003;44(13):3855.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
Purpose: Diagnosis of Thiel-Behnke corneal dystrophy, a disease of the anterior basement membrane and corneal stroma, currently relies heavily on the overall clinical picture of patient complaints, gross physical appearance of the anterior segment, and findings on slit-lamp examination. Key challenges to accurately identifying the disease are obscured morphology from scarring, deviation from "classical" presentation, and mimicry of characteristics typical of other closely related dystrophies. Here, we attempt to demonstrate the high degree of phenotypic variability that can be found in this particular disease and the diagnostic confusion that often exists. Methods: A well characterized family with an established diagnosis of Thiel-Behnke dystrophy mapped to chromosome 10 was evaluated along with the corresponding pedigree. Each individual was examined under slit-lamp and any apparent lesions were photographed. Results: In total, 3 generations were represented with 18 affected members accounted, ranging from ages 11 to 79. In general, clinical appearance could be classified into 3 main categories. Of those affected, the majority displayed honeycomb-like reticular opacities consistent with Thiel-Behnke dystrophy. Several subjects showed more granular appearing deposits in a geographic distribution, closely fitting the description of Reis-Buckler's dystrophy. Two of the youngest subjects with early manifestations of the disease possessed small superficial vesicles strikingly similar to Meesman's dystrophy. Finally, there were some eyes that exhibited an intermediate state between two diseases, or even more dramatically, two distinct disease presentations at separate locations within the same eye. Taken together, the pedigree demonstrated a wide, continuous spectrum of phenotypes of a supposedly singular disorder. Conclusions: These results show that use of clinical appearance alone can easily result in several different and conflicting diagnoses. With such potential for gross error, improvement in the diagnostic criteria is necessary. Histologic analysis may be of added value, however with DNA analysis readily available, we believe genetic screening may become the most useful adjunct in elucidating the true identity of the anterior basement membrane corneal dystrophies in the future.
This PDF is available to Subscribers Only