Figure 2. Representative corneal
phenotypes as shown by slit lamp examination. The proband of GCD1
family HCD-007 with R555W mutation had crumb-shaped and round white
opacities (A). The proband of GCD1 family HCD-023 with R555W
mutation showed confluent gray white opacities in a fan-like
distribution in the central cornea (B) and recurrence corneal
deposits after penetrating keratoplasty (C). The proband of GCD2
family HCD-016 with R124H mutation showed that the corneal opacities
resemble rings, disks or snowflakes (D). The patient with the
severe form of corneal dystrophy had confluent round white opacities in
a coralloid shape in the superficial stromal layer (E), whereas
his brother had fewer round opacities and thick spicular opacities (F)
in
a
consanguineous
marriage Chinese family clinically diagnosed as
GCD2. The proband of LCD1 family HCD-005 with R124C mutation showed
numerous fine, branching refractile lattice lines in subepithelial and
stromal layers of the cornea (G). The proband of LCD family
HCD-010 with H626R mutation showed recurrent diffuse stromal haze (H).
The
proband
of
LCD family HCD-022 with Δ613–616VAEP mutation showed
thick, stellate lattice lines with intervening opacities and extending
more to the periphery (I).