Eight patients carrying mutations known to cause other retinal diseases
| Patient ID | Disease presentation | Gene | Previously reported disease | Type | Mutations |
|---|---|---|---|---|---|
| 704 | Juvenile RP | BBS1 | BBS | Homozygous | c.1169T>G, p.M390R60 |
| 647 | LCA | CERKL | Cone–rod dystrophy | Homozygous | c.375C>G, p.C125W61 |
| 3748 | LCA | CLN3 | Batten disease | Homozygous | c.597C>A, p.Y199X62 |
| 617 | LCA | NR2E3 | Enhanced S-cone syndrome | Homozygous | c.119–2A>C63 |
| 3311 | Juvenile RP | PRPF31 | adRP | Heterozygous | c.220C>T, p.Q74X64 |
| 1318 | LCA | PRPH2 | adRP | Homozygous | c.637T>C, p.C213R65 |
| 3256 | LCA | PRPH2 | adRP | Homozygous | c.554T>C, p.L185P66 |
| 3425 | LCA | SAG | Oguchi disease | Homozygous | c.874C>T, p.R292X67 |
BBS, Bardet–Biedl syndrome; LCA, Leber congenital amaurosis; RP, retinitis pigmentosa.