Table 1 of
Huang, Mol Vis 2022; 28:29-38. Table 1 of
Huang, Mol Vis 2022; 28:29-38.
Table 1. Ocular manifestations of patients with NDP CNVs.
| Patient ID | Mutations (deletions) | Evaluation age | Ocular manifestations | Other problems | Reference |
|---|---|---|---|---|---|
| 1 | incl. ex. 2 | 2 years | Born blind | NA | [35] |
| 2 | incl. ex. 2–3 | 5 years | Born blind | hearing loss | [35] |
| 3 | incl. ex. 3 | 2 years | Born blind | mental retardation, microcephaly, seizures, short stature | [35] |
| 4 | incl. ex. 3 | 8 months | Born blind | NA | [35] |
| 5 | incl. ex. 3 | 4 months | Born blind | NA | [35] |
| 6 | incl. ex. 3 | 36 years | Born blind | mental retardation, seizures | [35] |
| 7 | 3′ UTR region of ex. Three incl. | 6 years | blindness with nystagmus, corneal opacities, posterior synechiae, cataract and shallow anterior chamber | learning difficulty | [33] |
| 8 | 3′ UTR region of ex. Three incl. | 10 years | blindness with nystagmus, corneal opacities, posterior synechiae, cataract and shallow anterior chamber | learning difficulty | [33] |
| 9 | ex. 2 | NA | blindness | NA | [27] |
| 10 | 494.1 kb incl. entire gene+MAOA and MAOB | At birth | At birth bilateral leucocoria, exudative vitreoretinopathy | seizure, developmental delay, language problem and motor development delay | [37] |
| 11 | 244 bp incl. ex. Three & 3′ UTR region | NA | bilateral corneal opacities, shallow anterior chamber, posterior synechiae, retrolenticular fibrovascular plaque, andcomplete congenital retinal detachment. | NA | [25] |
| 12 | e×.1–3 incl. entire gene | 8 years | blindness since birth, oculodigital sign and wandering eye movement, retinal detachment | NA | [39] |
| 13 | e×.1–3 incl. entire gene | 4 years | blindness since birth, corneal opacity, total retinal detachment | NA | [39] |
| 14 | 494.6 kb incl. entire gene and MOAB and EFHC2 | At birth | bilateral retinal detachment, microphthalmia, atrophic irides, disappearance of the anterior chamber, corneal opacification, and cataracts | No | [29] |
| 15 | whole gene deletion | NA | FEVR (stage 5/stage 5) | NA | [30] |
| 16 | ex. 2 | 7 months | Leukocoria with total retinal detachment | mental retardation | [38] |
| 17 | ex. 2 | 5 months | total retinal detachment | mental retardation | [38] |
| 18 | ex. 2 | 9 days | total retinal detachment | mental retardation | [38] |
| 19 | incl. ex. 2–3 | 4 years | bilateral cataracts, poor vision, retinal detachment | NA | [31] |