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Genetics > Glaucoma > Flashcards

Glaucoma Flashcards

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Biology 101 flashcards
1
Q

Primary congenital glaucoma

A

CYP1B1 (GLC3A)

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2
Q

Axenfeld-Rieger syndrome

A

FOXC1, PITX2, RIEG2, PAX6, may sporadic but when family history common AD

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3
Q

Gillespie syndrome

A

AR, not PAX6

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4
Q

Aniridia

A

2/3 AD. PAX6 adjacent to WT1. sporadic-WARG/Miller syndrome (Wilms, Aniridia, retardation, genitourinary abnormalities)

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5
Q

NF1

A

AD

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6
Q

Juvenile glaucoma

A

GLC1A = TIGR/MYOC (protein myocilin)

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7
Q

3% POAG

A

GLC1A = TIGR/MYOC (protein myocilin)

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8
Q

Normal tension glaucoma

A

OPTN, GLC1B

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Genetics (4 decks)

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