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Types of Fuchs

Early-onset vs. Late-onset Fuchs Dystrophy

Both types of Fuchs' dystrophy share the same general features of pathological progression. Endothelial guttae are formed, which eventually leads to the formation of corneal edema (swelling).  There are, however, subtle differences in physical appearance that can be observed through examination of the two types of disease.

Early-onset guttae are usually more coarse and distinct while those in late-onset appear more fine and patchy. The excrescences (dewdrop-like protrusions) in early-onset Fuchs possess sharper margins. Areas of coalescence (where the guttae merge together into one big patch) are clearly evident with definite intervening areas that had not been affected. Those in late-onset, however, are uniformly elevated and spread out. Furthermore, confocal microscopy indicated that late-onset guttae are generally associated with individual endothelial cells while this correlation is not present for early-onset Fuchs. The association of guttae with individual endothelial cells may be related to the subtle yet numerous guttae viewed through the slit lamp.



Late-Onset of the Endothelium

Confocal Spectrometry
Images of the Endothelium


Early-Onset of the Endothelium


Late-Onset Slit Lamp

Slit Lamp Images
of the Cornea

Arrows point
to side-view
of cornea


Early-Onset Slit Lamp

One gene that has been discovered to be responsible for Early Onset Fuchs Dystrophy is COL8A (on chromosome 1).  It is shown below:

Chromosome 1 for Early Onset Fuchs Dystrophy

Mutations in Chromosomes 13 and 18 have also been discovered.  These are linked to late-onset Fuchs dystrophy.  These mutations are illustrated below:

Chromosome 13 for late-onset fuchs dystrophy 
Chromosome 13.  The mutation linked to late-onset Fuchs Dystrophy
has been named FCD1.  Shown on the right are some of the genes that
may be the reaseon that this mutation leads to Fuchs Dystrophy.

Chromosome 18 for late-onset fuchs dystrophy
Chromosome 18.  FCD2 was discovered to be linked to late-onset Fuchs
Dystrophy in three different families with the disease.

> Read more about the discovery of these genes.

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