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Table 1 Mutations in NDP gene and the associated clinical findings

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  
  1. RE Right eye, LE Left eye, BE Both eyes, LP Light perception, HM Hand moving, RLF Retrolental fibroplasia, RD Retinal detachment, PHC Photocoagulation, Vx Vitrectomy, Lx Lensectomy
  2. a Identifications refer to Fig. 2
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