four patients carrying homozygous novel missense mutations in other retinal disease genes
| Patient ID | Disease presentation | Gene | Previously reported disease | Type | Mutations |
|---|---|---|---|---|---|
| 3779 | LCA | ALMS1 | Alström syndrome | Homozygous | c.9764C>G, p.S3255C |
| 1327 | Juvenile RP | BBS7 | BBS | Homozygous | c.728G>A, p.C243Y |
| 3773 | LCA | INPP5E | Joubert syndrome | Homozygous | c.1861C>T, p.R621W |
| 3795 | LCA | SNRNP200 | adRP | Homozygous | c.3133C>A, p.P1045T |
BBS, Bardet–Biedl syndrome; LCA, Leber congenital amaurosis; adRP, autosomal dominant retinitis pigmentosa.