Figure 3.

Family Q1 showing variable phenotype. A: Pedigree of the family showing the splice site mutation c.2240+1G>A and variable phenotypic presentation of the affected members. Filled boxes represent affected individuals. Open boxes represent unaffected individuals. Arrow indicates the proband. A double line indicates presence of consanguinity in the family. B, C: Representative slit lamp photomicrographs of the proband with a homozygous splice site mutation c.2240+1G>A. The representative clinical photographs of right (B) and left eye (C) of the proband shows the presence of the typical ground glass appearance of the cornea seen in autosomal recessive CHED. D: shows the presence of apple green birefringence on staining with Congo-red and viewing under polarized filter, marked by arrows. E: The slit lamp photomicrograph of the right eye of the affected sibling had marked stromal haze. F: The clinical photomicrograph of the mother shows the endothelial deposits (marked by arrows) with stromal haze. A few epithelial deposits are also seen.