Table 3.
The genetic overlapping between retinal dystrophies and RP phenotypes
| Pattern dystrophy | Bardet-Biedl Syndrome | Best Disease | Complex Phenotype; retinal dystrophy (rod-cone or cone-rod) | Retinitis Pigmentosa | Stargardt disease | Stickler Syndrome | Usher Syndrome |
|---|---|---|---|---|---|---|---|
| PRPH2 | BBS4 | BEST1 | ABCA4 | ABCA4 | ABCA4 | COL2A1 | USH2A |
| IMPG2 | CDH23 | C2ORF71 | ATF6 | ||||
| PRPH2 | CDHR1 | CDHR1 | CEP290 | ||||
| CEP290 | CRB1 | CRX | |||||
| CNGA3 | USH2A | GNAT2 | |||||
| CRB1 | GPR98 | ||||||
| FSCN2 | PCDH15 | ||||||
| IMPDH1 | TOPORS | ||||||
| KCNV2 | |||||||
| PDE6A | |||||||
| PDE6B | |||||||
| PITPNM3 | |||||||
| PRPH2 | |||||||
| RIMS1 | |||||||
| RP1 | |||||||
| RP1L1 | |||||||
| RPGRIP1 |
The coloured cells indicate the genes mutated in different clinical phenotypes.