Chromosomes and genetics

Question 1

NF type 1

Answer 1

Chromsome 17

Question 2

Tuberous Sclerosis

Answer 2

Chromsome 9 and 16

Question 3

Von-Hippel Lindau

Answer 3

Chromosome 3

Question 4

Pseudoexfoliation syndrome

Answer 4

LOXL1, Chromosome 15

Question 5

Best Disease

Answer 5

Chromoseom 11, VMD2 gene producing bestrophin

Question 6

Retinoblastoma

Answer 6

Chromsome 13

Question 7

Aniridia

Answer 7

PAX6

Question 8

LARGe (EBMD rarely)

Answer 8

TGFB1 on chromosome 5

Question 9

Stargargdt

Answer 9

ABCA4 gene mutation,

Question 10

Pseudoexanthoma Elasticum

Answer 10

ABCC6 gene, AR

Question 11

CSNB

Answer 11

rhodopsin

Question 12

Pattern dystrophies

Answer 12

RDS/peripherin

Question 13

Choroidemia

Answer 13

CHM

Question 14

Gyrate Atrophy

Answer 14

Ornithine aminotransferase, chromosome 10

Question 15

Marfan Syndrome

Answer 15

AD; fibrillin gene on chromsome 15

Question 16

JOAG

Answer 16

TIGR/MYOC

Question 17

OPTN

Answer 17

NTG

Question 18

Primary congenital glaucoma

Answer 18

LTBP2, CYP1B1

Question 19

Sorsby Macular Dystrophy

Answer 19

TIMP3

Question 20

Familial juvenile systemic Granulomatosis

Answer 20

NOD2 gene in 100% of cases; AD

Question 21

Autosomal dominant optic atrophy

Answer 21

OPA1

Question 22

Crouzon and Apert syndromes

Answer 22

FGF2 mutations on chromosome 10

Question 23

Axenfeld-Reiger

Answer 23

PITX2

Question 24

Warthin-Starry stain

Answer 24

Silver stain for Bartonella Henselae in Cat-Scratch disease

Question 25

Wedl cells

Answer 25

bladder cells of cataracts, swollen cells inside lens

Question 26

Ziehl-Nielsen stain

Answer 26

Acid-Fast Bacillus stain

Question 27

Zimmerman’s Tumor

Answer 27

Phakomatous choristoma, errant lens tissue in inferonasal lid, presenting as lid mass in newborn, usually have normal lens development otherwise.

Question 28

Heinz Body

Answer 28

Hemolytic Glaucoma