TY - JOUR
T1 - Prevalence and severity of fuchs corneal dystrophy in tangier island
AU - Eghrari, Allen O.
AU - McGlumphy, Elyse J.
AU - Iliff, Benjamin W.
AU - Wang, Jiangxia
AU - Emmert, David
AU - Riazuddin, S. Amer
AU - Katsanis, Elias Nicholas
AU - Gottsch, John D.
N1 - Funding Information:
All authors have completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest. Publication of this article was supported in part by National Eye Institute (Bethesda, Maryland) Research Grant R01EY016835 (J.D.G.) and the A. Edward Maumenee Research (Baltimore, Maryland) Grant Award (A.O.E.). Data analysis was supported by Wilmer Biostatistics Core Grant R01EY01765 . Involved in design of the study (A.O.E., E.J.M., S.A.R., J.D.G.); conduct of the study (A.O.E., E.J.M., B.W.I., D.E., J.D.G.); collection, management, analysis, and interpretation of the data (A.O.E., E.J.M., B.W.I., J.W., S.A.R., J.D.G.); preparation of the manuscript (A.O.E., E.J.M., B.W.I., J.W., S.A.R., N.K., J.D.G.); and review and approval of the manuscript (A.O.E., E.J.M., B.W.I., J.W., D.E., S.A.R., N.K., J.D.G.). The study protocol was prospectively approved by the Joint Committee on Clinical Investigation at The Johns Hopkins University School of Medicine and was conducted in accordance with the tenets of the Declaration of Helsinki. Informed written consent was obtained from all participants. The authors express their gratitude to the people of Tangier Island for their hospitality and to Cindy Parks for assistance with data collection and supplies.
PY - 2012/6
Y1 - 2012/6
N2 - Purpose: To investigate the clinical and genetic features of late-onset Fuchs corneal dystrophy (FCD) on Tangier, an island in the Chesapeake Bay with an isolated population of approximately 500 individuals. Design: Observational, cross-sectional study. Methods: A total of 156 individuals born to inhabitants of Tangier Island volunteered to undergo ophthalmic evaluation. Medical history was ascertained prior to examination. All participants underwent anterior segment examination with slit-lamp biomicroscopy. Retroillumination photographs were acquired from affected individuals and the disease severity was compared with individuals from large families ascertained previously. Genomic DNA samples were investigated for the presence of the recently identified risk allele rs613872, an intronic variant of TCF4. Results: Of the 148 examined individuals who were at least 30 years of age, 32 showed the classical symptoms of late-onset FCD (21.6%), providing a minimum prevalence of 11% among individuals over the age of 50 years. Severity was significantly lower compared to 51 cases from unlinked families, among individuals either 50 to 70 or above 70 years of age (P =.05 and P =.01, respectively). Retroillumination photography analyses were suggestive of mild severity when compared with the disease phenotype associated with FCD1- and FCD2-linked families. The rs613872 variant was associated with a higher affectation rate (P =.01), while the wild-type allele was correlated with a higher proportion of subclinical disease (P =.01). Conclusions: In this study population in Tangier, late-onset FCD manifests clinically with a mild phenotype and increased prevalence. The rs613872 variant correlates with increased affectation and a clinical disease phenotype.
AB - Purpose: To investigate the clinical and genetic features of late-onset Fuchs corneal dystrophy (FCD) on Tangier, an island in the Chesapeake Bay with an isolated population of approximately 500 individuals. Design: Observational, cross-sectional study. Methods: A total of 156 individuals born to inhabitants of Tangier Island volunteered to undergo ophthalmic evaluation. Medical history was ascertained prior to examination. All participants underwent anterior segment examination with slit-lamp biomicroscopy. Retroillumination photographs were acquired from affected individuals and the disease severity was compared with individuals from large families ascertained previously. Genomic DNA samples were investigated for the presence of the recently identified risk allele rs613872, an intronic variant of TCF4. Results: Of the 148 examined individuals who were at least 30 years of age, 32 showed the classical symptoms of late-onset FCD (21.6%), providing a minimum prevalence of 11% among individuals over the age of 50 years. Severity was significantly lower compared to 51 cases from unlinked families, among individuals either 50 to 70 or above 70 years of age (P =.05 and P =.01, respectively). Retroillumination photography analyses were suggestive of mild severity when compared with the disease phenotype associated with FCD1- and FCD2-linked families. The rs613872 variant was associated with a higher affectation rate (P =.01), while the wild-type allele was correlated with a higher proportion of subclinical disease (P =.01). Conclusions: In this study population in Tangier, late-onset FCD manifests clinically with a mild phenotype and increased prevalence. The rs613872 variant correlates with increased affectation and a clinical disease phenotype.
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U2 - 10.1016/j.ajo.2011.11.033
DO - 10.1016/j.ajo.2011.11.033
M3 - Article
C2 - 22321803
AN - SCOPUS:84862808816
VL - 153
SP - 1067
EP - 1072
JO - American Journal of Ophthalmology
JF - American Journal of Ophthalmology
SN - 0002-9394
IS - 6
ER -