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Course contents ▾
  1. Introduction & atlas
  2. Anterior dystrophies
  3. Meesmann juvenile epithelial dystrophy
  4. Lisch epithelial dystrophy
  5. Gelatinous drop-like dystrophy
  6. Cogan dystrophy
  7. Reis-Bücklers dystrophy
  8. Thiel-Behnke dystrophy
  9. Stromal dystrophies
  10. Lattice dystrophy
  11. Granular dystrophy
  12. Macular dystrophy, or Groenouw type II
  13. Schnyder crystalline dystrophy
  14. François fleck dystrophy, or "fleck corneal dystrophy"
  15. Posterior amorphous corneal dystrophy
  16. Endothelial dystrophies
  17. Posterior polymorphous corneal dystrophy
  18. CHED
  19. Fuchs dystrophy
  20. Synthesis
  21. Tables & references
Anterior dystrophies · Dystrophies of Bowman's layer and the anterior stroma

Reis-Bücklers dystrophy

Epithelial-stromal TGFBI

Group
TGFBI
Layer
Bowman layer and anterior stroma
Gene
TGFBI R124L, 5q31
Inheritance
AD
Age of onset
Childhood — cornea normal at birth
Symptom
Early, severe recurrent erosions; loss of acuity from scarring
Treatment
PTK ± mitomycin, keratectomy; DALK or keratoplasty if deep
Recurrence
Fréquente — 47 % des yeux après PTK, délai moyen 21,6 mois (Dinh 1999) ; médiane 2,0 ans après kératoplastie (Marcon 2003)
Layer involvedCOUCHE ATTEINTEBowmanStroma antérieur
Cues: AD/AR inheritance · graft recurrence +++ high ++ intermediate + low · bold = key terms · Differential diagnosis (blue) and Treatment (amber) boxes.
The pitfall

Erosions earlier and more severe than in Thiel-Behnke.

Genetics and background

Genetics
AD Autosomal dominant (AD)
Mutation
TGFBI, Arg124Leu mutation (R124L)
Laterality
bilateral
Symmetry
Yes
Systemic factors
No
Age of onset
during childhood; the cornea is normal at birth.
Location
Irregular map-like opacities of grey-white color. Often separated from the limbus by a clear interval. Bowman's layer and the anterior stroma are involved. It is a superficial form of granular dystrophy.

At the slit lamp

Appearance
Honeycomb opacities similar to lesions of post-photokeratectomy fibrosis (haze) that spread to take on a geographic appearance and may reach the limbus and the deep stroma.

On retroillumination, it produces a glassy granular appearance.

Symptoms and course

Recurrent pain or erosion
Yes, from an early age (1st and 2nd decade), often more frequent and more severe than in Thiel-Behnke. The episodes decrease after the age of 30
Visual acuity
progressively decreases secondary to corneal scarring.

Diagnosis

Diagnosis:

  • Histology: localized disappearance of Bowman's layer and mesh-like deposits located at the level of Bowman's layer and the anterior stroma, staining with Masson trichrome.
  • Electron microscopy (helpful for distinguishing it from Thiel-Behnke): the deposits have the appearance of small rods similar to that found in granular dystrophies.
  • Confocal microscopy: the basement membrane and Bowman's layer are replaced by amorphous material, with a reduced number of epithelial cells overlying the dystrophy. Superficially the material is distributed in a focal, irregular but well-defined manner; more deeply, the deposits are more diffuse without any shadow zone. These deposits are smaller and more reflective than those found in Thiel-Behnke.
  • OCT: homogeneous, continuous hyperreflective deposits at the level of Bowman's layer and the anterior stroma. These deposits have an anterior surface with a saw-tooth configuration (non-specific but more frequent in Reis-Bücklers) and a smooth posterior surface.

Treatment

Treatment

Initially, treatment of the recurrent corneal erosions

Once the corneal scar has appeared, treatment varies:

  • Superficial keratectomy with a blade and peeling of the scar
  • PTK +/- mitomycin
  • DALK
  • Penetrating keratoplasty

Recurrence +++ Recurrence on graft: Frequent