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

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 (CHED1) with autosomal dominant inheritance and CHED type 2 (CHED2) with autosomal recessive inheritance. Mutations in the sodium bicarbonate transporter-like solute carrier family 4 member 11 (SLC4A11) gene result CHED2. Methods: A 37 years old female was clinically diagnosed as CHED2. 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 SLC4A11 gene were amplified using polymerase chain reaction. The amplified materials were analyzed by direct sequencing method. Results: The sequencing results of the SLC4A11 gene showed a novel homozygous mutation in exon 9 (c.1158C>A, p.C386*) in the proband with CHED2 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 SLC4A11 gene in the patient with CHED2. 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.