From: Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy
Familya | DNA Chang (Protein Prediction) | IDa/Sex/Age | Allele Status | Visual Acuity (Refraction) | Vitreoretinal Findings | Comments |
---|---|---|---|---|---|---|
1 | c.625 T → C in exon 3 (S73P) | Ш-1/M/11 mo | Homozygous | BE: follow a moving object | BE: Avascular retina, fibrous proliferation, dragged macula | |
П-1/M/30 y | Homozygous | RE: 0.3 (−5.0 D) LE: 0.4 (−4.5 D) | BE: Avascular retina, fibrous proliferation, persistent hyaloids remnant | PHC, encircling (BE) | ||
П-2/F/31 y | Heterozygous | RE: 1.2 (nc) LE: 1.2 (nc) | BE: Normal | |||
2 | c.751C → G in exon 3 (R115G) | Ш-1/M/4 mo | Homozygous | RE: HM (nc) LE: follow a moving object | RE: RLF, RD LE: Avascular retina, fibrous proliferation, dragged macula, persistent hyaloids remnant | Lx (RE) PHC (LE) |
П-2/F/26 y | Heterozygous | RE: 1.5 (nc) LE: 1.5 (nc) | BE: Normal | |||
3 | c.331 T → C in exon 2 | Ш-2/M/6 mo | Homozygous | BE: follow a moving object | BE: RLF, dragged macula, persistent hyaloid remnant | PHC, encircling (BE) |
Ш-1/M/7 y | Homozygous | RE: NLP (nc) LE: LP (nc) | BE: RLF, RD | Vx Lx (BE) | ||
П-1/M/30 y | Homozygous | RE: NLP (nc) LE: NLP (nc) | BE: RLF, RD, flat anterior chamber | Lx (BE) | ||
П-3/F/24 y | Heterozygous | RE: 1.2 (nc) LE: 1.0 (nc) | BE: Normal | |||
П-4/F/28 y | Heterozygous | RE: 1.2 (nc) LE: 1.2 (nc) | BE: Normal | |||
4 | c.201 + 5G → A (IVS1 + 5G → A) | Ш-1/M/2 y | Homozygous | BE: follow a moving object | BE: Avascular retina, fibrous proliferation, dragged macula, persistent hyaloids remnant | PHC (BE) |
П-1/F/27 y | Heterozygous | RE: 1.5 (−4.0 D) LE: 1.5 (−4.0 D) | BE: Normal |