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Dystrophies 2 Flashcards

1
Q

Mutation of gene coding keratoepithelin

A

TGFB1 - Reis-Bucklers, Thiel-Behnke, Avelino, Granular

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2
Q

Curly fibers under electron microscopy

A

Thiel-Behnke

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3
Q

Bowman’s layer replaced with a fibrocellular material in a “saw-tooth” pattern

A

Thiel-Behnke

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4
Q

AR

A

Gelatinous drop-like corneal dystrophy, Macular, Congenital hereditary endothelial dystrophy

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5
Q

Gelatinous droplike - where defect

A

tumor-associated calcium signal transducer 2 (TACSTD2)

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6
Q

Macular - where defect

A

carbohydrate sulfotransferase 6 (CHST)

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7
Q

Congenital stromal corneal dystrophy - where defect

A

decorin

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8
Q

Opacification of the central anterior stroma with flakes. Peripheral cornea is clear

A

Congenital stromal corneal dystrophy

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9
Q

Meretoja syndrome

A

lattice corneal dystrophy type II = familial amyloidosis = Finnish type = gelsolin type (no dystrophy)

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10
Q

Lattice dystrophy - genetics + substance

A

AD - TGFB1 . amyloid accumulation in tissues. from anterior to posterior, centrifugally

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11
Q

Lattice dystrophy - staining

A

Congo red. Metachromiasia if stained with crystal violet. Birefrigrance. Dichroism

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12
Q

Congo red. metachromiasia if stained with crystal violet

A

Lattice dystrophy

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13
Q

amyloid accumulation in tissues

A

Lattice dystrophy. Gelatinous droplike

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14
Q

Birefrigrance. Dichroism

A

Lattice dystrophy

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15
Q

Age of presentation

A

Might like to grow. Macular - Lattice - Granular

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16
Q

Rate of recurrence after KP

A

Gelatinous Droplike(?) -Rude Little Green Men –? Reis-Bucklers - Lattice - Granular - Macular

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17
Q

retroillumination

A

Meesmann

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18
Q

PAS-positive

A

Meesmann

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19
Q

electron accumulation of granular/filamentary “peculiar substance”

A

Meesmann

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20
Q

mutation in keratin K3 or the keratin K12

A

Meesmann

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21
Q

Bowman layer is replaced by a sheetlike connective tissue layer on histopathology

A

Reis-Bucklers

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22
Q

Frequent and severe epithelial erosions

A

Reis-Bucklers

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23
Q

tumor-associated calcium signal transducer 2 (TACSTD2)

A

Gelatinous droplike

24
Q

carbohydrate sulfotransferase 6 (CHST)

25
decorin
Congenital stromal corneal dystrophy
26
Honeycomb pattern at Bowman sparing the periphery
Thiel-Behnke
27
Vesicles in the posterior cornea
Posterior Polymorphous Corneal Dystrophy
28
Posterior Polymorphous Corneal Dystrophy - genetics
AD
29
Glaucoma in 10-15%
Posterior Polymorphous Corneal Dystrophy
30
Iris atrophy, corectopia, and iridocorneal adhesions
Posterior Polymorphous Corneal Dystrophy
31
Dandruff-like deposits in stroma
Fleck corneal dystrophy
32
can be unilateral
Fleck corneal dystrophy
33
vision is not decreased
Fleck corneal dystrophy
34
X-linked dominant ?recessive
Lisch epithelial corneal dystrophy
35
"stationary"
Congenital Hereditary Endothelial Dystrophy, Congenital Stromal corneal dystrophy
36
UBIAD1
Schnyder dystrophy
37
Schnyder dystrophy - mutation
UBIAD1
38
central corneal opacification, subepithelial crystals, arcus lipoides
Schnyder dystrophy
39
opacities cholesterol and phospholipids
Schnyder dystrophy
40
stain red with Oil red O
Schnyder dystrophy
41
Under scotopic conditions, the pupil in dilated and light is able to pass around the central cholesterol deposition
Schnyder dystrophy
42
Most severe in term of vision loss stromal dystrophy?
macular
43
Superficial clouding --> full thickness. guttae appearance. Severe photophobia, recurrent erosions
macular
44
macular
AR, Superficial clouding --> full thickness. GAGs. Alcian blue, PAS. guttae appearance. Severe photophobia, recurrent erosions
45
GAGs
macular
46
Alcian blue, PAS
macular
47
Avellino
granular+lattice. granular type 2
48
Granular+Lattice
Avellino
49
bread-crumps
Granular type 1
50
Granular type 1
bread-crumps, deposition of hyaline material (keratoepithelin)
51
deposition of hyaline material
keratoepithelin - Granular
52
What degeneration is identical in appearance to Central Cloudy Dystrophy of Francois?
posterior crocodile shagreen
53
ABMD - how many of them have erosions
10%
54
How many patients with erosions have ABMD
50%
55
Densely-crowded epithelial microcysts in a "band-like" or "feathery whorled" pattern. no erosions
Lisch epithelial corneal dystrophy
56
resembles Meesmann
Lisch epithelial

Cornea (10 decks)

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