Table 2 of Kumar, Mol Vis 2011; 17:693-707. Table 2 of Kumar, Mol Vis 2011; 17:693-707.
Table 2. Mutations detected and the associated phenotype seen in patients. (Abbrevations: OD-Right eye, OS-Left eye, N/A-Not applicable, mm-millimeter).
| Axial length (mm) | ||||||||
|---|---|---|---|---|---|---|---|---|
Case number |
Age/sex (years) |
Age of onset (years) |
Cataract phenotype |
Corneal diameter (mm) |
OD |
OS |
Visual acuity (decimal) binocular |
Mutation detected |
| CC1 | 0.9/F | since birth | pulverulent Nuclear cataract | 11.0 | 19.00 | 19.40 | N/A | CRYGC:p.R48H, CRYGD:p.R95R, CRYGD: c.T564C |
| CC2 | 3/M | 9 months | Dense Nuclear cataract | 11.2 | 20.10 | 20.50 | 0.20 | CRYGD:p.R95R, CRYGD: c.T564C |
| CC3 | 3/M | 1 year | Lamellar cataract with nystagmus | 11.3 | 21.30 | 20.80 | 0.25 | CRYGD:p.R95R, CRYGD: c.T564C |
| CC4 | 2.5/M | 7 months | Nuclear cataract | 11.8 | 20.50 | 20.90 | 0.17 | CRYGD:p.R95R, CRYGD: c.T564C |
| CC5 | 3/M | 1.2 years | Lamellar pulverulent | 10.9 | 22.00 | 21.40 | 0.25 | CRYGD:p.R95R |
| CC6 | 0.7/M | since birth | Nuclear cataract | 10.0 | 19.30 | 19.80 | N/A | CRYGD:p.R95R, CRYGD: c.T564C |
| CC7 | 3/M | 8 months | Progressive lamellar cataract | 11.0 | 21.30 | 20.70 | 0.20 | CRYGD:p.R95R, CRYAB:rs11603779T>G |
| CC8 | 2.5/M | 10 months | Nuclear cataract | 11.2 | 20.70 | 21.00 | 0.20 | CRYAB:rs11603779T>G |
| CC9 | 3/F | 6 months | pulverulent Nuclear cataract | 11.5 | 21.50 | 22.00 | 0.25 | CRYGD:p.R95R, CRYGD: c.T564C |
| CC10 | 0.9/M | since birth | Nuclear cataract | 11.1 | 20.00 | 19.60 | N/A | CRYGD:p.R95R, CRYGD: c.T564C |
| CC11 | 3/F | 2 months | Nuclear cataract | 11.5 | 21.10 | 20.80 | 0.22 | CRYGD:p.R95R, CRYGD: c.T564C |
| CC12 | 1.5/F | since birth | Anterior polar cataract | 11.3 | 20.60 | 20.00 | 0.20 | GJA8:p.L268L, CRYGD:p.R95R, CRYGD: c.T564C |
| CC13 | 0.6/M | since birth | Lamellar cataract with nystagmus | 10.5 | 19.50 | 19.10 | N/A | CRYGD:p.R95R, CRYGD: c.T564C |
| CC14 | 3/M | 5 months | Nuclear cataract | 11.6 | 21.60 | 21.10 | 0.25 | CRYGD:p.R95R, CRYGD: c.T564C |
| CC15 | 3/M | 7 months | Dense Nuclear cataract | 11.8 | 22.10 | 22.30 | 0.22 | CRYGD:p.R95R, CRYAB:rs11603779T>G |
| CC16 | 1.4/M | since birth | Nuclear cataract | 11.3 | 21.10 | 21.30 | 0.20 | CRYGD:p.R95R, CRYGD: c.T564C |
| CC17 | 1/M | since birth | Nuclear cataract | 11.6 | 20.30 | 20.10 | N/A | CRYGD:p.R95R, CRYGD: c.T564C |
| CC18 | 3/M | 1.4 years | Nuclear cataract with nystagmus | 11.7 | 21.80 | 22.10 | 0.20 | CRYGC:p.R48H, CRYGD:p.R95R, CRYGD: c.T564C |
| CC19 | 3/M | 4 months | Lamellar cataract | 12.0 | 21.60 | 21.10 | 0.25 | CRYGC:p.R48H, CRYGD: c.T564C |
| CC20 | 0.7/M | since birth | Lamellar cataract with nystagmus | 11.2 | 19.20 | 19.30 | N/A | CRYGC:p.R48H, GJA8: p.L281C, CRYGD:p.R95R, CRYGD: c.T564C |
| CC21 | 0.1/F | since birth | Nuclear cataract | 09.0 | 18.10 | 18.40 | N/A | CRYGD:p.R95R, CRYGD: c.T564C |
| CC22 | 0.3/M | since birth | Nuclear cataract | 10.3 | 19.10 | 18.90 | N/A | CRYAB:rs11603779T>G |
| CC23 | 1.2/F | 2 months | pulverulent Nuclear cataract | 11.4 | 20.50 | 20.40 | 0.25 | CRYGD:p.R95R, CRYGD: c.T564C |
| CC24 | 0.9/M | since birth | Nuclear cataract | 10.3 | 20.10 | 20.30 | N/A | CRYGD:p.R95R |
| CC25 | 1/M | since birth | Anterior polar cataract | 12.0 | 19.80 | 20.20 | N/A | CRYGD:p.R95R |
| CC26 | 1.3/F | 4 months | Nuclear cataract | 11.6 | 21.30 | 21.10 | 0.25 | CRYGD:p.R95R, CRYGD: c.T564C |
| CC27 | 1/F | since birth | Lamellar cataract | 11.7 | 20.40 | 20.30 | N/A | CRYGD:p.R95R, CRYGD: c.T564C |
| CC28 | 0.11/M | since birth | Nuclear cataract pulverulent | 09.4 | 19.40 | 19.30 | N/A | CRYGD:p.R95R, CRYGD: c.T564C |
| CC29 | 1.1/F | since birth | Total cataract | 10.0 | 21.30 | 20.90 | 0.25 | CRYGD:p.R95R, CRYGD: c.T564C |
| CC30 | 3/F | 1 year | Nuclear cataract with nystagmus | 11.0 | 22.10 | 22.50 | 0.20 | CRYGD:p.R95R, CRYGD: c.T564C |