Flashcards in Dytrophies Deck (7):
Corneal Dystrophy of Bowman's Layer
Type I and II
AD 5q31 Reis-Buckler - painful RCE, 1st decade, geographic opacities at level of bowman's (Rod like bodies on EM)
Theil-benke - painful RCE 1st decade, honeycomb opacities in anterior stroma. curly fibers on EM.
combo of lattice and granular features.
snowflake granular deposits in anterior stomra. Stains with Tricrome and Congo red.
Beta-transforming growth factor induced gene human clone 3
5q31 - location of mutation in several corneal dystrophies,
lattice type 1, IIIA, IV. Avelino, Granular and Corneal Dystrophy of Bowman's layer type 1 and 2.
All AD, spare the peripheral 1-2 mm of cornea.
Gelatinous Droplike Corneal Dystrophy
AR Chrom 1p34 Subepithelial gelationous deposits of amyloid. Mulberry lesions, decreased vision, pain, photophobia,
PK's have recurrence.
Lattice Type II (Finnish Type, Mertoja syndrome)
Associated with systemic amyloid deposition - nerves, heart, kidneys, skin (cutis laxa, mask facies, pedulous ears)
AD Chr 9q34
Congenital Corneal Clouding
Tears in Decemets (forceps / glaucoma)
Ulcers (HSV, Nisseria,staph, neurotrophic)
Metaoblic - MPS, mucholipidosis, tyrosinosis
Posterior - staphyolma, Peters, posterior keratoconnus
Endothelial - PPMD, CHED, CHSD