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Cornea > Dystrophies 2 > Flashcards

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
Q

decorin

A

Congenital stromal corneal dystrophy

26
Q

Honeycomb pattern at Bowman sparing the periphery

A

Thiel-Behnke

27
Q

Vesicles in the posterior cornea

A

Posterior Polymorphous Corneal Dystrophy

28
Q

Posterior Polymorphous Corneal Dystrophy - genetics

29
Q

Glaucoma in 10-15%

A

Posterior Polymorphous Corneal Dystrophy

30
Q

Iris atrophy, corectopia, and iridocorneal adhesions

A

Posterior Polymorphous Corneal Dystrophy

31
Q

Dandruff-like deposits in stroma

A

Fleck corneal dystrophy

32
Q

can be unilateral

A

Fleck corneal dystrophy

33
Q

vision is not decreased

A

Fleck corneal dystrophy

34
Q

X-linked dominant ?recessive

A

Lisch epithelial corneal dystrophy

35
Q

“stationary”

A

Congenital Hereditary Endothelial Dystrophy, Congenital Stromal corneal dystrophy

36
Q

UBIAD1

A

Schnyder dystrophy

37
Q

Schnyder dystrophy - mutation

38
Q

central corneal opacification, subepithelial crystals, arcus lipoides

A

Schnyder dystrophy

39
Q

opacities cholesterol and phospholipids

A

Schnyder dystrophy

40
Q

stain red with Oil red O

A

Schnyder dystrophy

41
Q

Under scotopic conditions, the pupil in dilated and light is able to pass around the central cholesterol deposition

A

Schnyder dystrophy

42
Q

Most severe in term of vision loss stromal dystrophy?

43
Q

Superficial clouding –> full thickness. guttae appearance. Severe photophobia, recurrent erosions

44
Q

macular

A

AR, Superficial clouding –> full thickness. GAGs. Alcian blue, PAS. guttae appearance. Severe photophobia, recurrent erosions

45
Q

GAGs

46
Q

Alcian blue, PAS

47
Q

Avellino

A

granular+lattice. granular type 2

48
Q

Granular+Lattice

49
Q

bread-crumps

A

Granular type 1

50
Q

Granular type 1

A

bread-crumps, deposition of hyaline material (keratoepithelin)

51
Q

deposition of hyaline material

A

keratoepithelin - Granular

52
Q

What degeneration is identical in appearance to Central Cloudy Dystrophy of Francois?

A

posterior crocodile shagreen

53
Q

ABMD - how many of them have erosions

54
Q

How many patients with erosions have ABMD

55
Q

Densely-crowded epithelial microcysts in a “band-like” or “feathery whorled” pattern. no erosions

A

Lisch epithelial corneal dystrophy

56
Q

resembles Meesmann

A

Lisch epithelial

Cornea (10 decks)

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