Table 5 Genes and proteins leading to retinal dystrophies involved in phototransduction, visual cycle and phagocytosis of rod outer segments

CNGA1

4p12

rod cGMP-gated channel alpha subunit

Phototransduction

2.2

arRP

CNGB1

16q13

rod cGMP-gated channel beta subunit

Phototransduction

arRP

GUCA1B

6p21.1

guanylate cyclase activating protein 1B

Phototransduction

adRP, adMD

RHO

3q22.1

rhodopsin

Phototransduction

19-25

adRP, arRP, dCSNB

PDE6A

5q33.1

cGMP phosphodiesterase alpha subunit

Phototransduction

4

arRP

PDE6B

4q16.3

cGMP phosphodiesterase beta subunit

Phototransduction

4

arRP, dCSNB

PDE6C

10q23.33

cone alpha subunit of cGMP phosphodiesterase

Phototransduction

arCOD

SAG

2q37.1

arrestin

Phototransduction

arRP, Oguchi disease

CNGB3

8q21.3

cone cyclic nucleotide-gated cation channel beta 3 subunit

Phototransduction

arCOD

ABCA4

1p22.1

ATP-binding cassette transporter - retinal

Visual cycle

2,9

arRP, arMD, arCORD

RGR

10q23.1

RPE-retinal G protein-coupled receptor

Visual cycle

0,5

arRP, coroid sclerosis

RLBP1

15q26.1

retinaldehyde-binding protein 1

Visual cycle

arRP

BEST1

11q12.3

Bestrophin-1

Visual cycle

adMD (Best type)

IRBP

Visual cycle

arRP

RPE65

1p31.2

retinal pigment epithelium-specific 65 kDa protein

Visual cycle

2

arRP, arLCA

CA4

17q23.2

carbonic anhydrase IV

Visual cycle

adRP

RDH12

14q24.1

retinal dehydrogenase 12

Visual cycle

4

arRP

IDH3B

20p13

NAD(+)-specific isocitrate dehydrogenase 3 beta

Visual cycle

arRP

ELOVL4

6q14.1

elongation of very long fatty acids protein

Visual cycle

adMD

PITPNM3

17p13.2

phosphatidylinositol transfer membrane-associated family member 3

Visual cycle

adCORD

LRAT

4q32.1

lecithin retinol acyltransferase

Visual cycle

0,7

arRP, arLCA

GUCY2D

17p13.22

retinal-specific guanylate cyclase 2D

visual cycle

21

arLCA, adCORD

MERTK

2q13

c-mer protooncogene receptor tyrosine kinase

Phagocytosis of ROS

0,6

arRP