Ten patients carrying one or more novel missense mutations in LCA or juvenile RP genes
| Patient ID | Disease presentation | Gene | Type | Mutations |
|---|---|---|---|---|
| 3319 | LCA | CRB1 | Homozygous | c.1439G>C, p.C480S |
| 3611 | LCA | GUCY2D | Homozygous | c.2132C>T, p.P711L |
| 3799 | LCA | GUCY2D | Compound Heterozygous | c.743C>G, p.S248W |
| c.3224+1G>C | ||||
| 3725 | LCA | GUCY2D | Compound Heterozygous | c.1343C>A, p.S448X44 |
| c.2678C>T, p.S893F | ||||
| 1272 | LCA | GUCY2D | Compound Heterozygous | c.1933T>C, p.S645P |
| c.2207T>G, p.M736R | ||||
| 1313 | Juvenile RP | PDE6A | Compound Heterozygous | c.2333A>T, p.D778V |
| c.1363A>T, p.K455X | ||||
| 3740 | LCA | RDH12 | Compound Heterozygous | c.692G>A, p.G231D |
| c.823G>T, p.E275X | ||||
| 1268 | LCA | TULP1 | Compound Heterozygous | c.1518C>A, p.F506L |
| c.1277C>T, p.P426L | ||||
| 3771 | LCA | TULP1 | Compound Heterozygous | c.1199G>A, p.R400Q58 |
| c.961T>G, p.Y321D | ||||
| 3681 | LCA | TULP1 | Compound Heterozygous | c.1102G>T, p.G368W59 |
| c.1064A>T, p.D355V |
LCA, Leber congenital amaurosis; RP, retinitis pigmentosa.