GENES SBRV

Question 1

RB1

Answer 1

Retinoblastoma L13q14

Question 2

A3243G

Answer 2

MIDD, MELAS

Question 3

ABCA4

Answer 3

Stargardt, DMRI, RP, CONES (bietti não)

Question 4

BBS1

Answer 4

Bardet Biedl

Question 5

EFEMP 1

Answer 5

Drusas dominantes/Mallatia

Question 6

ELOVL/PROM 1

Answer 6

Stargardt dominante

Question 7

CYP2V2

Answer 7

Bietti

Question 8

BEST 1/VDM1

Answer 8

Best

Question 9

ARMS 2, SERPING, CFH, ELN, C3

Answer 9

Polipoidal

Question 10

BRCA1/BAP
(cromossomo 3 e 8)

Answer 10

Melanoma coróide

Question 11

C1QTNF5

Answer 11

Lord
Aut. dominante

Question 12

CFH (C1), ARMS 2, HTRA1 (C10), ABCA4

Answer 12

DMRI

Question 13

CHM

Answer 13

Coroideremia (lig X)

Question 14

CRB1

Answer 14

RP tipo RAP, PARAVENOSA, EPR PRESERVAÇÃO PARARTERIOLAR, LEBER

Question 15

FBN1

Answer 15

MARFAN

Question 16

FZD4
NDP/ LRP5

Answer 16

FEVR

Question 17

HLA A29

Answer 17

Birdshot

Question 18

HLA B51

Answer 18

BEHÇET

Question 19

HLA B7

Answer 19

Serpiginosa e Histoplasmose

Question 20

HLA B7 e Drw2

Answer 20

HISTOPLASMOSE

Question 21

KRIT 1

Answer 21

Hemangioma cavernoso

Question 22

Marcadores imunohistoquímicos melanoma coróide

Answer 22

Melanie atirou-se na Mitsubishi HMB 45 100
Melan A
Tirosinase
MITf
HMB45
S100

Question 23

MT ND1
MT ND4
MT ND6

Answer 23

Neuropatia óptica Leber
(MT = mitocondrial)

Question 24

MYD88 L265P ou IL6/IL10 aumentada patognomônico

Answer 24

Linfoma vitreorretiniano

Question 25

NDP/Norrie

Answer 25

NORRIE, COATS, FEVR, RP TIPO RAP

Question 26

NEMO

Answer 26

Incontinência pigmentosa

Question 27

NOD 2/CARD 15

Answer 27

Blau

Question 28

NR2S3

Answer 28

Goldmann Favre

Question 29

RDH5

Answer 29

Fundo albipuntatus (fundo = 5 letras)

Question 30

RLPB1

Answer 30

Retinite puntata albescens

Question 31

RPE65

Answer 31

RP, amaurose congênita Leber

Question 32

RS1

Answer 32

Retinosquise juvenil X

Question 33

USH1B USH2A USH3A

Answer 33

Usher

Question 34

VHL

Answer 34

Von Hippel Lindau (C3)

Question 35

PRPH2/IMPG1

Answer 35

10% dos casos de BEST

Question 36

HLA DRB1

Answer 36

Oftalmia simpática (Ac contra melanócitos)

Question 37

CD46, CD55, CD59, CD95

Answer 37

Privilégio imunológico

Question 38

Quais dão risco e quais protegem na DMRI? Haplogrupos J e U Haplogrupo H

Answer 38

Haplogrupos J e U = RISCO (ju é do malllll) Haplogrupo H = protege!!

Question 39

COL4A1

Answer 39

HANAC (tortuosidade arterial retiniana familiar, nefropatia, caimbra)

Question 40

OPA 1

Answer 40

Atrofia óptica dominante NÃO CONFUNDIR COM: Atrofia óptica de Leber que é MTND1, MT-ND4, MTND6

Question 41

DOENÇAS MITOCONDRIAIS

Answer 41

MIDD MELAS Atrofia óptica de Leber Kearns Sayre Herança sempre materna

Question 42

DOENÇAS LIGADAS AO X

Answer 42

Retinose pigmentar X Retinosquise juvenil X Coroideremia

Question 43

DOMINANTES

Answer 43

BEST LORD Drusas dominantes

Question 44

RECESSIVAS

Answer 44

STARGARDT FALCIFORME LORP

Question 45

CTNNA1

Answer 45

Distrofia padrão borboleta Dois Ns duas asas da borboleta

Question 46

4q35

Answer 46

Fascioescapulohumeral

Question 47

COL2A1 COL11A1

Answer 47

STICKLER COL2A1 (TIPO 1) COL11A1 (TIPO 2)

Question 48

VCAN

Answer 48

VERSICANO WAGNER