Table 1 Clinical features of affected probands with variants identified in this study
From: Identification of mutations associated with congenital cataracts in nineteen Chinese families
Family (Proband) | Age of onset | Cataract description | Procedures/age | IOP | HCD/age | AXL/age | BCVA (logMAR) | Additional clinical fingdings |
|---|---|---|---|---|---|---|---|---|
F#1 | 5y | Lamellar cataract | BL Lensectomy + IOL/5y | R18.9 L21.8(PTS) R17.3 L14.1(PO 6 m) | R11.8 L11.7/5y | R21.47 L21.53/5y | R0.5 L0.7(PST) R0.1 L0.1(PO 1y) | Nil |
F#2 | 2Â m | Total cataract | BL Lensectomy/4m BL IOL/3y | R16.67 L16.77(PTS) R18.3 L17.1(PO 2y) | N/K | R21.26 L21.40/5y | R0.3 L0.6(PO 5y) | BL Nystagmus Dxotropia |
F#3 | 35y | Embryonic nuclear cataract | L Lensectomy + IOL/41y | R13.5 L13.5(PTS) R17.4 L14.4(PO 1d) | R11.5 L11.4/41y | R22.99 L22.99/41y | R0.2 L FC/BE(PST) R0.2 L1.3(PO 1d) | BL Shallow Anterior Chamber BL Ciliary Body Cyst |
F#4 | 5y | Posterior polar cataract | BL Lensectomy + IOL/5y | R16.4 L18.4(PTS) R12.1 L12.2(PO 1 m) | R11.4 L11.5/8y | R20.63 L21.28/8y | R0.8 L0.7(PST) R0.1 L0.1(PO 3y) | BL Amblyopia |
F#5 | 5y | Lamellar cataract | BL Lensectomy + IOL/5y | R16.8 L18.0(PTS) R14.0 L16.0(PO 1y) | R11.7 L11.3/5y | R21.79 L21.84/8y | R0.8 L0.7(PST) R0.2 L0.1(PO 1y) | BL Amblyopia |
F#6 | 1y | Embryonic nuclear cataract | BL Lensectomy + IOL/3y | N/K | R10.2 L10.3/3y | R19.63 L19.72/6y | R0.4 L0.2(PO 1y) | BL Visual impairment Exotropia |
F#7 | 6y | Embryonic nuclear cataract | Nil | R16.6 L17.1 | R11.7 L11.8/16y | R21.96 L21.97/16y | R0.1 L0.1 | Nil |
F#8 | 3y | Embryonic nuclear cataract | BL Lensectomy + IOL/4y | R13.9 L14.2(PO 2y) | R10.4 L10.4/6y | R22.62 L22.29/6y | R0.9 L0.7(PST) R0.2 L0.1(PO 1y) | R Exotropia |
F#9 | 8y | anterior polar cataract | BL Lensectomy + IOL/39y | R12.3 L11.3(PTS) R14.0 L11.3(PO 1d) | R11.6 L11.6/39y | R22.64 L22.86/39y | R0.7 L0.8(PST) | BL Corneal endothelial dystrophy |
F#10 | 16y | anterior polar cataract | Nil | R11.4 L10.7 | N/K | N/K | R0 L0 | BL Shallow Anterior Chamber |