Table 1 Ophthalmological features of the patients carrying CRYAA mutations
Case | 1 | 2 | Yamamoto, 1988 (index case) |
|---|---|---|---|
Country of origin | Russia | Spain | Japan |
Age (y) at last ophthalmic revision | 27 | 8 (only LE)a | 49 |
Genetic change | c.521A > C; p.(*174Serext*41) | c.520T > C; p.(*174Glnext*41) | Unknown |
Segregation | de novo | de novo | Apparently dominant inheritance |
BCVA (RE/LE) | LP / 20/400 | NA / 20/400 | LP / NLP |
Refraction | + 8.5 | + 15 | NA |
Microphthalmia | + (B) | + (B) | No |
Anterior-posterior axis (mm) (RE/LE) | 18.67 / 19.06 | NA / 13 | 23.4 / 23.7 |
Lens | Congenital aphakia (B) | Congenital aphakia (B) | Membranous structure (reabsorbed cataract) |
Iris | Hypoplasia (B) | Hypoplasia (B) | Totally absent iris (LE), rudimentary iris (RE) |
Cornea | Microcornea (B), increased thickness (B) | Microcornea, congenital corneal edema, and cornea opacity (B) | Microcornea with corneal opacity (B) |
Cornea diameter (mm) | 6.0 × 6.5 (B) | NA | 10.0 × 10.5 (B) |
Central corneal thickness (μm) | 790 / 820 | NA | NA |
Posterior segment | Optic nerve and foveal hypoplasia (B) | Intravitreous hemorrhages (B), retinal detachments and atrophy (RE), and glaucomatous cup (LE) | Foveal hypoplasia, glaucomatous cup, and dot hemorrhages (RE) |
Nystagmus | + (B) | + (B) | + (B) |
Glaucoma | + (B) | + (LE) | + (B) |
IOP (mm Hg) (RE/LE) | 33 / 33 | 4 / 8a | 70 / 70 |
Other features | Strabismus | Congenital leukocoria, anterior PFV and hypotalamia (B) | Altered ERG |
Qx interventions | None | Membranectomy, pupiloplasty and anterior vitrectomy (B), orbital prosthesis (RE), and Ahmed valve implant (LE) | Laser membranectomy and trabeculectomy (RE) |