Anterior dystrophies · Epithelial and subepithelial (basement membrane) dystrophies
Gelatinous drop-like dystrophy
Epithelial and subepithelial
- Group
- Epithelial
- Layer
- Epithelium and subepithelium, extending into stroma
- Gene
- TACSTD2 (M1S1), 1p32
- Inheritance
- AR — Japanese predominance
- Age of onset
- First decade
- Symptom
- Progressive loss of acuity, photophobia, watering
- Treatment
- Superficial keratectomy, PTK, DALK or keratoplasty, keratoprosthesis in extreme forms
- Recurrence
- Rapide
Cues: AD/AR inheritance · graft recurrence +++ high ++ intermediate + low · bold = key terms · Differential diagnosis (blue) and Treatment (amber) boxes.
The pitfall
The fastest recurrence of all corneal dystrophies.
Genetics and background
- 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.
At the slit lamp
- 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
Symptoms and course
- Recurrent pain or erosion
- Yes
- Visual acuity
- progressive decrease
Diagnosis
Ancillary investigations:
Treatment
- Treatment
- PTK, DALK, penetrating keratoplasty and keratoprosthesis
- Recurrence on graft
- Recurrence +++ Rapid