Clinical and genetic features of female carriers with norrin cysteine knot growth factor mutations
| ID | Age range at examination (years) | Exon | cDNA change | Protein change | Mutation type | Reference | BCVA | FFA | ||
| OD | OS | OD | OS | |||||||
| N1 | 30s | 3 | c.362G>A | p.Arg121Gln | Missense | Reported | 20/20 | 20/20 | B | B |
| N2 | 20s | 3 | c.281A>T | p.His94Leu | Missense | Reported | 20/20 | 20/20 | C | C |
| N3 | 30s | 3 | c.334del | p.Gly113Alafs | Frameshift | Reported | 20/20 | 20/25 | A | A |
| N4 | 20s | 3 | c.391T>G | p.Cys131Gly | Missense | Reported | 20/20 | 20/20 | B | B |
| N5 | 40s | 3 | c.338G>A | p.Gly113Asp | Missense | Reported | 20/20 | 20/20 | B | B |
| N6 | 20s | 3 | c.391T>G | p.Cys131Gly | Missense | Reported | 20/25 | 20/25 | A | C |
| N7 | 20s | 3 | c.401G>C | p.*134Ser | Stoploss | Novel | 20/500 | 20/125 | A | A |
| N8 | 30s | 2 | whole gene deletion | – | CNV | Reported | 20/20 | 20/20 | C | C |
| N9 | 20s | 2 | c.109C>T | p.Arg37* | Non-sense | Reported | 20/20 | 20/20 | B | B |
| N10 | 20s | 2 | c.109C>T | p.Arg37* | Non-sense | Reported | 20/20 | 20/20 | A | A |
| N11 | 30s | 2 | exon2 deletion | – | CNV | Reported | 20/20 | 20/20 | C | A |
| N12 | 20s | 3 | c.181C>G | p.Leu61Val | Missense | Novel | 20/25 | 20/25 | C | C |
A, typical FEVR phenotype; B, milder vascular abnormalities previously reported in familial exudative vitreoretinopathy patients; BCVA, best corrected visual acuity; C, normal vasculature; CNV, copy number variant; OD, right eye; OS, left eye.