Fuchs Endothelial Corneal Dystrophy in a Heterozygous Carrier of Congenital Hereditary Endothelial Dystrophy Type 2 with a Novel Mutation in SLC4A11.

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Abstract Purpose : Congenital hereditary endothelial dystrophy (CHED ) is a rare genetic disorder caused by mutations in corneal endothelial cells . CHED can be divided into 2 types by the modes of inheritance ; CHED type 1 (CHED 1 ) with autosomal dominant inheritance and CHED type 2 (CHED 2 ) with autosomal recessive inheritance . Mutations in the sodium bicarbonate transporter-like solute carrier family 4 member 11 (SLC 4 A 11 ) gene result CHED 2 . Methods : A 37 years old female was clinically diagnosed as CHED 2 . Peripheral blood from the patient and her family members was obtained under informed consents . Genomic DNA was extracted in their WBCs , and whole exons and exon-intron boundaries of the SLC 4 A 11 gene were amplified using polymerase chain reaction . The amplified materials were analyzed by direct sequencing method . Results : The sequencing results of the SLC 4 A 11 gene showed a novel homozygous mutation in exon 9 (c .1158 C > A , p .C 3 86 *) in the proband with CHED 2 phenotype . Her father and sister showing normal cornea were heterozygous carriers of the mutation . Her mother showing late onset Fuchs endothelial corneal dystrophy (FECD ) also had the same mutation heterozygously . Discussion : We report a novel nonsense mutation of the SLC 4 A 11 gene in the patient with CHED 2 . In addition , one of heterozygous carriers in this family showed features of late onset FECD . Close clinical ocular examination for the heterozygous carriers should be performed to detect late onset FECD .