Table 3.
Clinical presentation of LCA patients with mutations identified in two loci
| Pedigree | Gene | Mutation | Age of onset | Visual Acuity | ERG | Clinical findings |
|---|---|---|---|---|---|---|
| Ar-21-04 | RPGRIP1 | p.D1114G | Birth | LPO | NR | Nystagmus, vitreous cells, narrow versus, severe “taporetinal dystrophy” |
| CEP290 | c.2991+1655A>G | |||||
| CEP290 | p.R1926P | |||||
| Ar-39-04 | GUCY2D | p.I915V | <3 months | N/A | NR | Nystagmus, keratoconus in early teens, hyperopia (+7.50 spherical equivalent), “retinitis pigmentosa”—like retinal dystrophy |
| GUCY2D | p.T838RfsX27 | |||||
| RPGRIP1 | p.P585S | |||||
| Ar-98-11 | GUCY2D | p.P701S | Birth | 5/160 | NR | Optic atrophy, diffuse vascular attenuation and retinal atrophy with midperiheral bone spicules |
| AIPL1 | p.W278X | |||||
| AIPL1 | p.R270H | |||||
| Ar-123-04 | GUCY2D | p.R768Q | Birth | LPO | NR | KCNS at age of 12 years, diffuse retinal atrophy and optic nerve atrophy, hyperopia (+8.00 spherical equivalent), autism, consanguinity (1st cousin parents) |
| GUCY2D | p.R768Q | |||||
| AIPL1 | p.W278X | |||||
| Ar-177-04 | AIPL1 | p.R302L | Birth | No fixation | NR | Slow pupils, high hyperopia (+7.75 spherical equivalent), nystagmus, mild optic nerve atrophy, midretinal pigment degeneration |
| CEP290 | p.A1832PfsX19 | |||||
| CEP290 | c.2991+1655A>G | |||||
| Ar-782-04 | RPE65 | p.L341S | Birth | LP | NA | Sandy diffuse peripheral pigmentary granularity and clumping, optic nerve atrophy |
| RPE65 | p.S121LfsX6 | |||||
| AIPL1 | p.R324L | |||||
| Ar-863-03 | CEP290 | c.2991+1655A>G | Birth | NLP | NR | Sluggish pupils, high hyperopia, nystagmus |
| CEP290 | p.F1950LfsX15 | |||||
| LCA5 | p.G439E |
NR non-recordable, NA not available, LP light perception, LPO light perception only, NLP no light perception