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Table 1 Ophthalmological features of the patients carrying CRYAA mutations

From: Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis

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)
  1. Notes: aRE not assessable (prosthetic eye).
  2. B bilateral, BCVA best corrected visual acuity, ERG electroretinogram, IOP intraocular pressure, LE left eye, LP light perception, NA not available, NLP no light perception, PFV persistent fetal vasculature, Qx Surgical interventions, RE right eye, y years