Table 1.
Clinical and Molecular Characteristics of the CRB1 Patients
| Patient | Age at First Visit (y/Sex) |
CRB1 Mutation |
Visual Acuity* | Refraction† | Fundus Features‡ | Kinetic Visual Field Extent (V-4e)§ | ERG Amplitude‖ |
Reference | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Allele 1 | Allele 2 | Rod b-Wave | Cone Flicker | |||||||
| P1 | 0.6/F | p.Cys948Tyr | Deletion of CRB1 | F&FL | +6.50 | Granular | NP | ND | 11 | 4, 5, 7 |
| P2 | 4/M | p.Cys948Tyr | p.Ser1350 del1 | 20/100 | +6.00 | Granular | 7 | ND | ND | 4, 5, 7, 45 |
| P3 | 5/F | p.Glu204 del7 | p.Cys480Arg | 20/200 | +6.50 | Granular; white dots | NP | ND | 10 | 7 |
| P4 | 8/F | p.Cys948Tyr | p.Cys1218Phe | 20/30 | +5.50 | Granular; PPRPE | 30 | ND | 7 | 4, 5, 7, 45 |
| P5¶ | 9/F | p.Arg764Cys | p.Val1336Ile | 20/800 | +3.50 | Clumped and bone-spicule pigment; macular pigmentary changes# | 12 | ND | ND | 4, 5, 7 |
| P6 | 13/F | p.Cys948Tyr | p.Cys948Tyr | 20/63 | +4.75 | Granular; PPRPE; macular pigmentary changes | 7 | ND | <1 | |
| P7 | 13/M | p.Cys948Tyr | p.Gln335Pro | 20/30 | +5.25 | Bone-spicule pigment; granular | 87 | ND | 13 | |
| P8¶ | 18/F | p.Arg764Cys | p.Val1336Ile | 20/63 | +1.25 | Bone-spicule pigment; white dots | 30 | ND | 1 | 4, 5, 7, 45 |
| P9 | 20/M | p.Cys948Tyr | p.Cys948Tyr | 20/80 | +1.00 | Clumped pigment# | 3 | ND | ND | |
| P10¶ | 22/M | p.Val578Glu | p.Val578Glu | 20/400 | +4.50 | Clumped pigment; macular pigmentary changes; white dots | 4 | ND | 7 | 7 |
| P11 | 25/F | p.Cys948Tyr | p.Cys948Tyr | 20/200 | +8.75 | Clumped pigment; macular pigmentary changes | 8 | ND | ND | 7 |
| P12 | 25/M | p.Pro748 del3 | p.Pro748 del3 | 20/125 | +2.00 | Clumped pigment; white and yellow dots | 8 | ND | <1 | 4, 5, 7, 45 |
| P13 | 26/M | p.Arg764Cys | p.Arg764Cys | 20/40 | +0.75 | Bone-spicule pigment; white and yellow dots | 35 | ND | 4 | |
| P14 | 26/F | p.Ile852Thr | p.Leu1097Arg | LP | +9.25 | Clumped pigment; macular pigmentary changes | ND | ND | ND | |
| P15¶ | 27/F | p.Gly477Arg | p.Arg764Cys | 20/300 | +3.50 | Clumped and bone-spicule pigment; macular pigmentary changes; white and yellow dots | 45 | ND | 5 | |
| P16¶ | 27/M | p.Val578Glu | p.Val578Glu | 20/1600** | +6.75 | Clumped pigment; macular pigmentary changes; white dots | <1 | ND | <1 | 7 |
| P17 | 29/F | p.Cys85 ins2 | p.Thr745Met | 20/800 | +5.25 | Clumped pigment; macular pigmentary changes | 20 | ND | 3 | 5, 7 |
| P18 | 34/F | p.Cys383Tyr | p.Asn871 ins1 | CF | +6.25 | Clumped pigment; macular atrophy | 2 | ND | 2 | 4, 5 |
| P19 | 38/M | p.Cys948Tyr | p.Trp1370Cys | 20/70 | +1.00 | Bone-spicule pigment; white dots | 61 | ND | 8 | |
| P20 | 44/M | p.Cys948Tyr | p.Cys587Tyr | HM | +7.00 | Clumped pigment; macular pigmentary changes | ND | ND | ND | |
| P21¶ | 47/F | p.Gly477Arg | p.Arg764Cys | 20/50 | Pseudophakia | Granular; clumped pigment | 37 | NP | NP | |
| P22 | 48/M | p.Lys801X | p.Leu1074Ser | LP** | Pseudophakia | Bone-spicule pigment; macular atrophy# | ND | ND | ND | 5, 7 |
PPRPE, preserved para-arteriole retinal pigment epithelium; ND, not detectable; NP, not performed; F&FL, fixes and follows light; CF, counts fingers; HM, hand motion; LP, light perception.
Best corrected visual acuity (eye with better acuity).
Spherical equivalent.
All had vitreous cells, attenuated retinal vessels, and various degrees of waxy appearance of the optic nerve head.
Expressed as a percentage of normal mean of V-4e target; 2 SD below normal is 90%13; average both eyes; similar in the two eyes unless specified.
Expressed as a percentage of normal mean amplitude (rod = 292 μV; cone flicker = 172 μV); 2 SD below normal is 67% for rod b-wave and 60% for cone flicker.14
Indicates sibling pairs: P5 and P8, P10 and P16, P15 and P21.
Coats disease.
Keratoconus.