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Article

Disease Expression and Familial Transmission of Fuchs Endothelial Corneal Dystrophy With and Without CTG18.1 Expansion.

Investigative ophthalmology & visual science - 4 Jan 2021

Xu Timothy T, Li Yi-Ju, Afshari Natalie A, Aleff Ross A, Rinkoski Tommy A, Patel Sanjay V, Maguire Leo J, Edwards Albert O, Brown William L, Fautsch Michael P, Wieben Eric D, Baratz Keith H

Abstract excerpt

Purpose: To characterize inheritance, penetrance, and trinucleotide repeat expansion stability in Fuchs endothelial corneal dystrophy (FECD). Methods: One thousand unrelated and related subjects with and without FECD were prospectively recruited. CTG18.1 repeat length (CTG18.1L) was determined via short tandem repeat assay and Southern blotting of leukocyte DNA. Multivariable logistic regression and generalized...

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Identifiers

PMID: 33444430
DOI: 10.1167/iovs.62.1.17
PMCID: PMC7814354

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