Table 4 List of genes encoding proteins involved in the pathogenesis of MDs, CDs, and CRDs in our cohort.

Macular dystrophies

GUCY2D

1

1.3%

Retinal-specific guanylate cyclase

Phototransduction

ABCA4

61

76%

ATP-binding cassette transporter—retinal

Visual cycle

PRPH2

9

11%

Peripherin 2

Structure and morphogenesis

RP1L1

1

1.3%

Retinitis pigmentosa 1-like protein 1

Cilium function

CFI

1

1.3%

Complement factor I

Immune system

BEST1

7

9%

Bestrophin 1

Transmembrane channel

Cone and cone-rod dystrophies

GUCA1A

1

12%

Guanylyl cyclase-activating protein 1

Phototransduction

GUCY2D

5

Retinal-specific guanylate cyclase

PDE6C

1

cGMP-specific cone phosphodiesterase 6C alpha prime protein

ABCA4

20

35%

ATP-binding cassette transporter—retinal

Visual cycle

PRPH2

3

12%

Peripherin 2

Structure and morphogenesis

CDHR1

2

Cadherin-related family member 1 (protocadherin 21)

CRB1

1

Protein crumbs homolog 1

RPGR

3

12%

Retinitis pigmentosa GTPase regulator

Cilium function

TTLL5

3

Tubulin tyrosine ligase-like family member 5

POC1B

1

POC1 (proteome of centriole 1) centriolar protein B

BEST1

1

16%

Bestrophin 1

Transmembrane channel

CACNA1F

2

L-type voltage-gated calcium channel alpha-1 subunit

CNGA3

2

Cone photoreceptor cGMP-gated cation channel alpha subunit

CNGB3

2

Cone cyclic nucleotide-gated cation channel beta 3 subunit

KCNV2

2

Potassium channel subfamily V member 2

CRX

2

3%

Cone-rod otx-like photoreceptor homeobox transcription factor

Transcription

ADAM9

1

2%

ADAM metallopeptidase domain 9 (meltrin gamma) protein

Cell–cell and cell–matrix interactions

CFH

1

2%

Complement factor H

Immune system

IMPG2

1

2%

Interphotoreceptor matrix proteoglycan 2

Organization of the interphotoreceptor matrix

RAB28

1

4%

RAB28 member of RAS oncogene family

Unknown function

TULP1

1

Tubby-like protein 1