Table 2 Summary of the Clinical Features of the Corneal Dystrophies

SUPERFICIAL CORNEAL DYSTROPHIES

MECD

Early childhood

Vision rarely blurred

Multiple distinct epithelial vesicles

RBCD

Childhood

Progressive visual impairment

Confluent irregular geographic opacities in Bowman layer and superficial stroma

TBCD

First/second decade

Progressive visual impairment

Subepithelial honeycomb opacities in central superficial cornea

GDCD

First/second decade

Marked visual impairment

Subepithelial nodular deposits and late staining of fluorescein

LECD

Childhood

Sometimes impaired

Epithelial opacities in different patterns

ERED

First decade

Sometimes impaired

Epithelial erosions

SMCD

First decade

Progressive loss of vision

Subepithelial opacities

CORNEAL STROMAL DYSTROPHIES

MCD

Usually childhood

Eventually severe visual impairment

Thinner than normal cornea with diffuse corneal haze with irregular shaped whitish opacities

GCD type I

Childhood

Progressive visual impairment

Well-defined granules that sometimes resemble crushed bread crumbs within a crystal clear cornea

GCD type II

First/second decade

Progressive impairment of vision

Variable shaped opacities in a clear superficial mid stroma of the cornea. Lattice lines sometimes appear in deeper cornea

LCD type I and variants

First decade

Progressive visual impairment

Delicate branching interwoven linear opacities occur in association with ovoid dots

LCD type II

Third/fourth decade

Vision usually normal until sixth decade

Corneal opacities forming lattice lines are found mainly in the peripheral cornea

FCD

At birth

Normal

small discrete dandruff or ring shaped, fleck like opacities

SCD

Early in life

Progressive decrease in visual acuity

Central corneal haze or subepithelial crystals

CSCD

Before birth

Moderate to severe visual loss

Diffuse corneal clouding with flake-like opacities throughout stroma

PACD

Infancy or childhood

Mildly affected

Diffuse sheet-like opacities especially in posterior corneal stroma

POSTERIOR DYSTROPHIES

FECD

Variable but usually fourth decade or later

Progressive visual impairment

Diffuse thickening of Descemet membrane with excrescences (guttae). Endothelial cells sparse and atrophic

PPCD

Early childhood

Rarely progressive visual impairment

Variable shaped abnormalities of the corneal endothelium

CHED1

Occasionally at birth, but usually in first/second decade

Blurred vision that worsens in the morning

Thickened cornea with diffuse clouding with occasional focal gray spots

CHED2

At birth

Blurred vision

Thickened cornea with diffuse clouding with occasional focal gray spots

XECD

At birth

Blurred vision common in males

Cloudy cornea (only in males) with moon crater-like endothelial cells