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Flashcards in Dytrophies Deck (7)
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0
Q

Corneal Dystrophy of Bowman’s Layer

Type I and II

A

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.

1
Q

Granular Dystrophy

A

Breadcrumb like deposit present in first decade, no RCE.
Spaces between white lesions are clear. Throughout stroma.
Stains with Mason Trichrome
5q31

2
Q

Avellino

A

AD 5q31
combo of lattice and granular features.
snowflake granular deposits in anterior stomra. Stains with Tricrome and Congo red.

3
Q

Beta-transforming growth factor induced gene human clone 3

A

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.

4
Q

Gelatinous Droplike Corneal Dystrophy

A

AR Chrom 1p34 Subepithelial gelationous deposits of amyloid. Mulberry lesions, decreased vision, pain, photophobia,
PK’s have recurrence.

5
Q

Gelsolin

A

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

6
Q

Congenital Corneal Clouding

A

STUMPED
Scleocornea
Tears in Decemets (forceps / glaucoma)
Ulcers (HSV, Nisseria,staph, neurotrophic)
Metaoblic - MPS, mucholipidosis, tyrosinosis
Posterior - staphyolma, Peters, posterior keratoconnus
Endothelial - PPMD, CHED, CHSD
Dermoid