Reis-Bücklers dystrophy

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.

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.

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:

• 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.

Recurrence +++ Recurrence on graft: Frequent