Gelatinous drop-like dystrophy

Genetics

AR Autosomal recessive (AR); Japanese predominance.

Mutation

M1S1 (tumor-associated calcium signal transducer 2) at 1p32, a protein of tight junctions and desmosomes. Abnormal deposits at the epithelial-stromal junction.

Laterality

usually bilateral

Symmetry

yes

Systemic factors

No

Age of onset

First years of life

Location

epithelial and subepithelial, potentially reaching the stroma.

Appearance

Often progressive, with 4 different clinical forms (it is uncertain whether there is progression from one form to another):

• Appearance similar to band keratopathy, the most common form
• Development of small to medium-sized nodules producing a kumquat-like appearance
• The nodules eventually coalesce to form massive epi- and subepithelial amyloid deposits producing a mulberry-like appearance (mulberry type)

The opaque white-yellow appearance of the deposits on direct illumination and their translucent appearance on retroillumination allow them to be distinguished from Salzmann nodules (an avascular hyaline product), which are elevated and rather grey-white or blue in color.

• Stromal-type opacities

Recurrent pain or erosion

Yes

Visual acuity

progressive decrease

Ancillary investigations:

Treatment

PTK, DALK, penetrating keratoplasty and keratoprosthesis

Recurrence on graft

Recurrence +++ Rapid