Gene and Associated Condition

Question 1

ABCA4

Answer 1

Stargardt Disease
Retinitis Pigmentosa
Cone-Rod Dystrophy
Early-Onset Severe Retinal Dystrophy
Fundus Flavimaculatus

Autosomal Recessive

Question 2

ABCC6

Answer 2

Pseudoxanthoma Elasticum

Autosomal Recessive

Question 3

ABCD1

Answer 3

Adrenoleukodystrophy

X-Linked Recessive

Question 4

ABHD12

Answer 4

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC)
Non-syndromic retinitis pigmentosa

Autosomal Recessive

Question 5

ACO2

Answer 5

Optic Atrophy with Infantile Cerebellar-Retinal Degeneration

Autosomal Recessive

Question 6

ADAM9

Answer 6

Cone-Rod Dystrophy

Autosomal Recessive

Question 7

ADAMTS18

Answer 7

Knobloch syndrome type 2
Microcornea, myopic chorioretinal atrophy and telecanthus
Early onset retinal dystrophy

Autosomal Recessive

Question 8

ADGRV1

Answer 8

Usher syndrome type IIC

Autosomal Recessive

Question 9

ADIPOR1

Answer 9

Complement System

Autosomal Dominant or Autosomal Recessive

Question 10

AGBL5

Answer 10

Retinitis Pigmentosa

Autosomal Recessive

Question 11

AHI1

Answer 11

Joubert syndrome

Autosomal Recessive

Question 12

AIPL1

Answer 12

Retinitis Pigmentosa
Cone-Rod Dystrophy
Lebers Congenital Amaurosis

Question 13

ALMS1

Answer 13

Alstrom syndrome

Autosomal Recessive

Question 14

AMACR

Answer 14

Alpha-methylacyl-CoA racemase deficiency
Bile acid synthesis defect

Autosomal recessive

Question 15

ARHGEF18

Answer 15

Retinitis Pigmentosa

Autosomal Recessive

Question 16

ARL13B

Answer 16

Joubert syndrome

Autosomal Recessive

Question 17

ARL2BP

Answer 17

Retinitis pigmentosa with or without situs inversus

Autosomal Recessive

Question 18

ARL3

Answer 18

Retinitis Pigmentosa
Joubert syndrome

Autosomal Dominant or Autosomal Recessive

Question 19

ARL6

Answer 19

Bardet-Biedl syndrome
Retinitis Pigmentosa

Autosomal Recessive

Question 20

ARMC9

Answer 20

Joubert Syndrome

Autosomal Recessive

Question 21

ARR3

Answer 21

unknown

Question 22

ARSG

Answer 22

Usher syndrome type IV

Autosomal Recessive

Question 23

ATF6

Answer 23

Achromatopsia

Autosomal Recessive

Question 24

ATOH7

Answer 24

Persistent hyperplastic primary vitreous

Autosomal Recessive

Question 25

B9D1

Answer 25

Meckel syndrome

Autosomal Recessive

Question 26

B9D2

Answer 26

Meckel syndrome

Autosomal Recessive

Question 27

BBIP1

Answer 27

Bardet-Biedl syndrome

Autosomal Recessive

Question 28

BBS1

Answer 28

Bardet-Biedl syndrome

Autosomal Recessive

Question 29

BBS10

Answer 29

Bardet-Biedl syndrome

Autosomal Recessive

Question 30

BBS12

Answer 30

Bardet-Biedl syndrome

Autosomal Recessive

Question 31

BBS2

Answer 31

Bardet-Biedl syndrome
Non-syndromic Retinitis Pigmentosa

Autosomal Recessive

Question 32

BBS4

Answer 32

Bardet-Biedl syndrome

Autosomal Recessive

Question 33

BBS5

Answer 33

Bardet-Biedl syndrome

Autosomal Recessive

Question 34

BBS7

Answer 34

Bardet-Biedl syndrome

Autosomal Recessive

Question 35

BBS9

Answer 35

Bardet-Biedl syndrome

Autosomal Recessive

Question 36

BEST1

Answer 36

Vitreoretinochoroidopathy
Rod-Cone Dystrophy
Adult Vitelliform Macular Dystrophy
Retinitis Pigmentosa

Autosomal Dominant and Autosomal Recessive

Question 37

C1QTNF5

Answer 37

Late-Onset Retinal Degeneration

Autosomal Dominant

Question 38

C21ORF2

Answer 38

Retinal Dystrophy with or without Macular Staphyloma
Spondylometaphyseal Dysplasia, Axial

Autosomal Recessive

Question 39

C2ORF71

Answer 39

Retinitis Pigmentosa

Autosomal Recessive

Question 40

C5ORF42

Answer 40

Orofaciodigital Syndrome
Joubert Syndrome

Autosomal Recessive