A Family of Fuchs Endothelial Corneal Dystrophy and Anterior Polar Cataract with An Analysis of Whole Exome Sequencing

Abstract

Background Our aim was to introduce a family affected by this rare phenotype, and perform the whole exome sequencing (WES) to explore the potential candidate genes causing the disorders.Methods A five-generation family including 5 patients affected by FECD with APC, and 9 patients suffered from only FECD was recruited from the First Affiliated Hospital of Harbin Medical University. All participants received ophthalmic examinations. 8 family members were selected to perform WES with a bioinformatics analysis.Results Patients in this family had FECD as the common feature. The proband (a 65-year-old female) was affected by FECD and APC in both eyes, with epithelial bullae in the left eye of the. Slit-lamp, specular and confocal microscope and OCT images showed guttae more serious in the central cornea than the peripheral area, confirming the diagnosis of FECD. In this family, most corneal guttae were bilateral with almost equal degree of progression in Descemet membrane, APC was found around the age of 10, perhaps even earlier. Bioinformatics analysis showed that 83 potential candidate genes in total may cause this condition in this family. No known causative gene of this phenotype or FECD was found by WES.Conclusion We introduced a family of FECD with APC, with no known causative gene found by WES, inferring that there may be a novel gene-locus associated with this condition. Further study will be engaged on candidate gene screening and variants validation with corresponding functional aspects to clarify the relationship between genotype and phenotype.