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Case Reports
. 2017 Aug;31(8):1250-1252.
doi: 10.1038/eye.2017.60. Epub 2017 Apr 7.

Assessment of a three-generation pedigree with Fuchs endothelial corneal dystrophy with anticipation for expansion of the triplet repeat in the TCF4 gene

M A Greiner  1   2 , D C Terveen  1 , J M Vislisel  3 , B R Roos  1   2 , J H Fingert  1   2
Affiliations
Case Reports

Assessment of a three-generation pedigree with Fuchs endothelial corneal dystrophy with anticipation for expansion of the triplet repeat in the TCF4 gene

M A Greiner et al. Eye (Lond). 2017 Aug.
No abstract available

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Three-generation FECD pedigree. The proband is indicated with an arrow and symbol III-1, while the proband’s mother and grandmother are indicated by symbols II-2 and I-2, respectively. Family members diagnosed with FECD are indicated with symbols that are shaded black. The number of TCF4 trinucleotide repeats in each family member’s genome was determined by PCR amplification and DNA sequencing, and is indicated to the right of their pedigree symbol.
Figure 2
Figure 2
Clinical features of FECD pedigree. Confocal microscopy (right column) and slit lamp biomicroscopy (left column) images of affected family members. Patient I-2 (top row) demonstrated mild corneal guttae (modified Krachmer Grade 2) with endothelial cell density of 1976 cells per mm2 and rare polymegathism. Patient II-2 (middle row) demonstrated moderate corneal guttae (modified Krachmer Grade 4) with endothelial cell density of 1693 cells per mm2 and mild polymegathism. Patient III-1 (bottom row) demonstrated confluent corneal guttae (modified Krachmer Grade 6) with diffuse endothelial cell dropout.
See this image and copyright information in PMC

References

    1. Baratz KH, Tosakulwong N, Ryu E, Brown WL, Branham K, Chen W et al. E2-2 protein and Fuchs’s corneal dystrophy. N Engl J Med 2010; 363(11): 1016–1024. - PubMed
    1. Wieben ED, Aleff RA, Tosakulwong N, Butz ML, Highsmith WE, Edwards AO et al. A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy. PLoS One 2012; 7(11): e49083. - PMC - PubMed
    1. Eghrari AO, Vasanth S, Wang J, Vahedi F, Riazuddin SA, Gottsch JD. CTG18.1 expansion in TCF4 increases likelihood of transplantation in Fuchs corneal dystrophy. Cornea 2017; 36(1): 40–43. - PMC - PubMed
    1. MacDonald ME, Ambrose CM, Duyao MP, Myers RH, Lin C, Srindhi L et al. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. The Huntington’s Disease Collaborative Research Group. Cell 1993; 72(6): 971–983. - PubMed
    1. Krachmer JH, Purcell JJ, Young CW, Bucher KD. Corneal endothelial dystrophy. A study of 64 families. Arch Ophthalmol 1978; 96(11): 2036–2039. - PubMed