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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