Dystrophies 2 Flashcards
Mutation of gene coding keratoepithelin
TGFB1 - Reis-Bucklers, Thiel-Behnke, Avelino, Granular
Curly fibers under electron microscopy
Thiel-Behnke
Bowman’s layer replaced with a fibrocellular material in a “saw-tooth” pattern
Thiel-Behnke
AR
Gelatinous drop-like corneal dystrophy, Macular, Congenital hereditary endothelial dystrophy
Gelatinous droplike - where defect
tumor-associated calcium signal transducer 2 (TACSTD2)
Macular - where defect
carbohydrate sulfotransferase 6 (CHST)
Congenital stromal corneal dystrophy - where defect
decorin
Opacification of the central anterior stroma with flakes. Peripheral cornea is clear
Congenital stromal corneal dystrophy
Meretoja syndrome
lattice corneal dystrophy type II = familial amyloidosis = Finnish type = gelsolin type (no dystrophy)
Lattice dystrophy - genetics + substance
AD - TGFB1 . amyloid accumulation in tissues. from anterior to posterior, centrifugally
Lattice dystrophy - staining
Congo red. Metachromiasia if stained with crystal violet. Birefrigrance. Dichroism
Congo red. metachromiasia if stained with crystal violet
Lattice dystrophy
amyloid accumulation in tissues
Lattice dystrophy. Gelatinous droplike
Birefrigrance. Dichroism
Lattice dystrophy
Age of presentation
Might like to grow. Macular - Lattice - Granular
Rate of recurrence after KP
Gelatinous Droplike(?) -Rude Little Green Men –? Reis-Bucklers - Lattice - Granular - Macular
retroillumination
Meesmann
PAS-positive
Meesmann
electron accumulation of granular/filamentary “peculiar substance”
Meesmann
mutation in keratin K3 or the keratin K12
Meesmann
Bowman layer is replaced by a sheetlike connective tissue layer on histopathology
Reis-Bucklers
Frequent and severe epithelial erosions
Reis-Bucklers