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E. J. McGlumphy, W. S. Yeo, S. A. Riazuddin, A. Al-Saif, A. O. Eghrari, D. N. Meadows, D. G. Emmert, N. Katsanis, J. D. Gottsch; Retroillumination Photographic Documentation of Age-Severity of Fuchs Corneal Dystrophy in Families Linked to FCD2. Invest. Ophthalmol. Vis. Sci. 2010;51(13):4641.
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Fuchs Corneal Dystrophy (FCD) is a progressive disease of the corneal endothelium and is pathologically defined by the presence of guttae, excrescences in Decemet membrane. We previously mapped three families to FCD2 on chromosome 18q. The following study was initiated to investigate the progression of the disease phenotype using retroillumination photography
We recruited two large families with multiple affected individuals. Exclusion analyses of the known late-onset FCD loci were completed with closely spaced STR markers. Haplotypes were constructed and two-and multi-point LOD scores were calculated. To document age-severity relationships, retroillumination photographs were acquired from members of both families with a total of 14 FCD positive participants (28 eyes). The corneal images were divided into four quadrants and guttae in each quadrant were manually counted by two independent observers.
Haplotype analyses were suggestive of linkage to chromosome 18, which was confirmed with significant LOD scores. A total of (70,249) guttae were counted between FCD2-linked families. A statistically significant increase in guttae density in the inferotemporal region was observed (p<0.016), a pattern similarly observed in a family linked to FCD1. FCD2-linked families display an exponential trend in progression, as was observed in a previous family linked to FCD1.
We have acquired baseline measurements for two families linked to FCD2 to investigate the progression of the disease phenotype. FCD2-linked families have higher guttae density in the inferotemporal region, similar to that observed in a previously published FCD1-linked family. However, the FCD2-linked families have an exponential age-severity relationship which progresses less severely than the one previously reported in a FCD1-linked family.
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