Table 3 of
Liu, Mol Vis 2023; 29:169-179. Table 3 of
Liu, Mol Vis 2023; 29:169-179.
Table 3. Summary of clinical features among patients with LTBP2 frameshift mutations.
| Mutation type | DNA location | cDNA change | Clinical features |
|---|---|---|---|
| Frameshift mutation | Exon 1 | c.412delG | PCG |
| Exon 4 | c.1012delT | Megalocornea, lens dislocation, secondary glaucoma | |
| Exon 6 | c.1243-1256 del114 | PCG, megalocornea, corneal haze, lens dislocation | |
| Exon 7 | c.1415delC | PCG, megalocornea, corneal haze, lens dislocation | |
| Exon 12 | c.2253delG* | Megalocornea, corneal haze, spherophakia, lens dislocation, closed angle glaucoma, optic atrophy | |
| Exon 23 | c.3427delC | PCG, buphthalmia, high C/D ratio | |
| Exon 24 | c.3542delT | High myopia, lens dislocation, microspherophakia, secondary glaucoma, nystagmus | |
| Exon 25 | c.3672delC | ||
| Exon 36 | c.5376delC | Lens dislocation | |
| Exon 9 | c.1796_1797insC | Spherophakia, lens dislocation, megalocornea, axial myopia, retinal detachment and high IOP (4-5 years after onset) | |
| Exon 24 | c.3614_3618dupCTGGC | Microspherophakia, lens dislocation, secondary glaucoma, optic disc atrophy, high C/D ratio | |
| Exon 27 | c.4031_4032insA | Lens dislocation, myopia, glaucoma, high C/D ratio | |
| Exon 36 | c.5439_5440insA | Microspherophakia, nuclear cataract, high myopia | |
| Exon 36 | c.5446dupC | Microspherophakia, lens dislocation, secondary glaucoma |