Figure 1. Genotype-phenotype features of the novel SLC4A11 deletion mutation. A: Pedigree of the family showing a novel deletion mutation of one of the four leucine residues c2518-c2520 del CTG in the exon 18 of Solute Carrier Family 4 (sodium borate co-transporter) member 11 (SLC4A11). Filled boxes represent affected individuals. Open boxes represent unaffected individuals. Arrow indicates the proband. B: Slit lamp photomicrographs of the affected individual harboring the novel mutation. The representative clinical photograph shows the presence of marked stromal haze and spheroidal degeneration in the right eye of the proband. C: Partial nucleotide sequence of SLC4A11. The chromatogram of the patient (P) is shown in comparison to control (C). The block marks the four CTG repeats in the control and only three in the patient. The homozygous deletion of CTG residue in the patient can be noted. D: Multiple sequence alignment of SLC4A11 gene from different species. The amino acid leucine (L) at positions 840–843 is conserved over a range of species in the course of evolution, which are highlighted in red. E: Transmission electron micrographs of the affected patient harboring the novel mutation. E: Transmission electron micrograph showing Descemet’s membrane of the CHED2 patient. Descemet’s membrane is thickened, with a normal anterior banded zone and a thickened posterior banded layer (Scale bar 2 μm). F: This panel represents a magnified view of part of the posterior banded layer showing presence of thick collagen bundles indicated by the arrows. G: The disorganized corneal stroma can be noted along with the presence of amorphous material. (Scale bar 2 μm).