12 Epithelial Stromal TGFB1 Corneal Dystropy

Corneal Dystrophy

Broad term for disease where corneal transparency is reduced due to the presence of abnormal material

Transforming Growth Factor B-induced protein 1 (TGFB1p/ keratoepithelin)

Extracellular matrix protein which plays a role in cell adhesion, as well as wound healing

Reis-Bucklers Dystrophy

Epithelial stromal dystrophy due to abnormal deposits in Bowman’s layer & sub-epithelium (autosomal dominant)

Symptoms of Reis-Bucklers Dystrophy

• pain (severe)

• Redness

• Blepharospasm

• Watering

• Onset in 1st decade

Signs of Reis-Bucklers Dystrophy

• subepithelial opacities

  • Gray white

  • Reticular pattern in central/peripheral cornea

• More likely to be irregular, diffuse, clear interruptions between opacities

• Loose epithelium

  • Highlighted by fluorescein pooling, areas of negative staining, rapid TBUT

Tx/management of Reis-Bucklers Dystrophy

• co-management and/or referral to corneal OMD highly recommended

• Acute episodes of recurrent corneal erosion

  • Topical antibiotic

  • Cyclopentolate

  • Sodium chloride 5%

  • Bandage contact lens

• Surgical intervention

  • Considered d/t high incidence visually significant opacities

Electron microscopy appearance of Reis-Bucklers dystrophy

Replacement of Bowman’s layer w/ subepithelial (rod shaped bodies, trapezoidal shaped bodies)

Thiel-Behnke Dystrophy

Epithelial stromal dystrophy due to abnormal deposits in Bowman’s layer & sub-epithelium (autosomal dominant)

Electron microscopy appearance of thiel-behnke dystrophy

Deposition of undulating “saw-tooth” fibrocellular material at level of Bowman (described as curly fibers)

Symptoms of Thiel-Behnke Dystrophy

• pain (severe)

• Redness

• Blepharospasm

• Watering (less frequent & severe vs RBD)

• RCEs likely onset in second decade

Signs of Thiel-Behnke Dystrophy

• subepithelial opacities

  • Grey-white

  • Honeycomb pattern (in central cornea, spares peripheral cornea)

  • More likely have little flecks & less distinguishable clear interruptions between opacities

• Sub-epithelial opacities consistent w/ Thiel-Behnke dystrophy

• Loose epithelium highlighted by areas of fluorescein pooling, areas of negative staining, rapid TBUT

Tx/management of Thiel-Behnke Dystrophy

• co-management and/or referral to corneal OMD highly recommended

• Acute episodes of recurrent corneal erosion

  • Topical antibiotic

  • Cyclopentolate 1%

  • Sodium chloride 5%

  • Bandage CLs

• Surgical intervention generally considered d/t high incidence of visually significant opacification

Granular dystrophy (type 1; classic granular dystrophy)

Condition characterized deposition of hyaline material in corneal stroma w/ resultant granular pattern (autosomal dominant)

Electron microscopy appearance of granular dystrophy (type 1)

Presence of hyaline deposits which stains red with Masson trichrome

Symptoms of granular Dystrophy (type 1)

• blurred/reduced vision (prevalent in young adulthood, middle age)

• Difficulty w/ glare

• Pain (severe)

• Redness

• Blepharospasm

• Watering

• RCEs less frequent & severe vs RBD & TBD

Signs of granular dystrophy (type 1)

cornea

• anterior stromal opacification

  • White

  • Granule pattern (crushed breadcrumbs)

  • Presents in central cornea (spares peripheral cornea)

  • More likely to be small, discrete, separated by clear intervening spaces

• Stromal opacification

  • Deeper than anterior stroma

  • White

  • Granule pattern (crushed breadcrumbs)

  • Presents in central cornea (spares peripheral cornea)

  • More likely to be larger, numerous, separated by clear intervening spaces

  • May eventually become confluent over pupillary axis

Tx/management granular dystrophy (type 1)

• co-management and/or referral to corneal OMD highly recommended

• Acute episodes of recurrent corneal erosion

  • Topical antibiotic

  • Cyclopentolate

  • Sodium chloride 5%

  • Bandage contact lens

• Specialty CLs

• Surgical intervention

  • Generally considered in cases of visually significant opacification, decreasing painful RCE episodes

Lattice Dystrophy (classic lattice dystrophy)

Condition characterized by buildup of amyloid deposit is in corneal stroma w/ resultant lattice-like pattern (autosomal dominant)

Electron microscopy appearance of lattice dystrophy

• presence of amyloid deposits which

  • Stain pinkish-red w/ Congo red dye

  • Metachromatic w/ crystal violet stain

  • Demonstrate apple-green birefringence when viewed w/ polarized light

Symptoms of lattice dystrophy

• pain (Severe)

• Redness

• Blepharospasm

• Watering

• RCS common; can present in childhood/early adulthood

Signs of lattice dystrophy

Cornea

• subepithelial white dots (glassy)

• Stromal opacifications (branching pattern; refractile lines; presents in central cornea, spares peripheral cornea, associated diffuse anterior stromal haze, best seen on retroillumination)

• Late stages can present w/ significant (subepithelial fibrosis, scarring)

Granular Dystrophy (type 2)

• avellino dystrophy, combined granular lattice dystrophy

• Condition characterized concomitant amyloid & hyaline deposition in corneal stroma

• Autosomal dominant

Electron microscopy appearance of granular dystrophy (type 2)

Accumulation of amyloid & hyaline deposits

Symptoms of granular dystrophy (type 2)

• pain (severe)

• Redness

• Blepharospasm

• Watering

• RCEs most common than compared to classic granular dystrophy

Signs of granular dystrophy (type 2)

• anterior stromal opacifications

  • White, granule pattern (crushed breadcrumbs)

  • Presents in central cornea (spares peripheral)

• Deep stromal opacifications

  • Branching pattern (refractile lines)

  • Present in central corneal (spares peripheral)

• Confluence present in late stages