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okaps > phakomatoses > Flashcards

phakomatoses Flashcards

1
Q

melanocytic iris hamartomas

A

NF1 (Chr 17)

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2
Q

optic pathway glioma

A

NF1 (Chr 17)

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3
Q

optic pathway pilocytic astrocytomas

A

NF1 (Chr 17) aka gliomas

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4
Q

plexiform neurofibromas

A

NF1 (Chr 17) (s shaped)

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5
Q

cafe au lait spots

A

NF1 (Chr 17); 6 or more at least 5 or 15 mm

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6
Q

axillary/inguinal freckling

A

NF1 (Chr 17)

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7
Q

optic nerve sheath meningiomas

A

NF2 (Chr 22)

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8
Q

posterior sublenticular opacity

A

NF2 (Chr 22)

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9
Q

punched out retinal depigmentation

A

TS (Chr 9)

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10
Q

bilateral CN8 schwannomas

A

NF2 (Chr 22)

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11
Q

astrocytic retinal hamartoma

A

TS (Chr 9) look like mulberry

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12
Q

palpebral angiofibromas, colobomas, sectoral iris depigmentation

A

TS (Chr 9)

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13
Q

shagreen patch

A

TS (Chr 9)

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14
Q

ungual fibromas

A

TS (Chr 9)

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15
Q

subependymal nodules

A

TS (Chr 9)

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16
Q

cardiac rhabdomyoma

A

TS (Chr 9)

17
Q

hypomelanotic macules

A

TS (Chr 9)

18
Q

cortical dysplasia

A

TS (Chr 9)

19
Q

congenital glaucoma

A

Sturge Weber Syndrome

20
Q

choroidal hemangiomas

A

Sturge Weber Syndrome , catsup fundus - can have serous RD, CME

21
Q

retinal capillary hemangioma

A

VHL (Chr 3) (dilated tortuous vessel leading towards white circle spot)

22
Q

pheochromocytoma

A

VHL (Chr 3)

23
Q

RCC

A

VHL (Chr 3)

24
Q

pancreatic cysts

A

VHL (Chr 3)

25
Q

conjunctival telangectasia

A

AT (Chr 11), Te11angectasia

26
Q

oculomator apraxia, convergence abnormalities, nystagmus

A

AT (Chr 11), Te11angectasia

27
Q

progressive skin lesions, retinal vascular occlusion, NV, absence of foveal pit, exudative/tractional RD

A

Incontinentia pigmenti XLD

28
Q

psammoma bodies

A

meningiomas NF2

29
Q

antoni A/antoniB

A

schwannomas (neurilemomas) in NF1

30
Q

rosenthal fibers

A

optic nerve gliomas NF1

31
Q

verocay bodies

A

schannomas (Antoni A)

okaps (6 decks)

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