Genes Flashcards

1
Q

FEVR

A

FZD-4

Norrie

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2
Q

Drusas dominantes

A

EFEMP-1

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3
Q

Quais doenças estão assoc ao geneABCA4

A

Stargardt
Distrofias de cones
DMRI
Retinose pigmentar

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4
Q

Qual doença está assoc ao Genr CRB1

A

Atrofia coriorretiniana paravenosa pigmentada

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5
Q

Gene RS1

A

Retinosquise ligada ao X

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6
Q

Genes da DMRI

A

CFH E ARMS2

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7
Q

Doenças relacionadas com mutação no gene EFFEMP1

A

Mallatia levantinesse
Doyne honeycomb distrophy
Drusas radiais

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8
Q

Gene assoc c distrofia de Sorsby

A

Timp 3

Neovasc de coróide em jovens

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9
Q

Mutação no gene Cyp4y2

A

Retinopatia cristalina de bietti

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10
Q

Gene assoc a amaurose cong de lente que possui tratamento específico

A

RPE65

- tto com luxturna

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11
Q

Gene associado a distrofia viteliforme do adulto

A

PRPH2

AD

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12
Q

Gene assoc a retinosquise ligada ao X

A

Gene RS1

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13
Q

Gene NR2 E3

A

Sd goldman favre

- AR

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14
Q

Gene OAT

A

Atrofia girata (AR)

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15
Q

Gene RDH5

A

Cegueira noturna estacionária - fundus albipuntactus

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