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Table 1 Clinical features of all probands with potential disease-causing variants

From: Whole exome sequencing revealed 14 variants in NDP, FZD4, LRP5, and TSPAN12 genes for 20 families with familial exudative vitreoretinopathy

ID Gender Symptom Age at (year) BCVA Fundus examination FFA
Onset Exam OD OS OD OS OD OS
1 M VD 13 15 0.2 0.8 IPRV, WLRS, LS IPRV, WLRS, LS IPRV, WLRS, LS, NPA IPRV, WLRS, LS, NPA, PRA, PRL
2 M VD, S 4 10 0.5 0.12 IPRV, WLRS IPRV, WLRS IPRV, WLRS, NPA IPRV, WLRS, NPA, PRA, PRL
3 F VD, S 4 5 0.4 0.1 IPRV, WLRS IPRV, WLRS IPRV, WLRS, NPA, PRA, PRL IPRV, WLRS, NPA, PRA, PRL
4 M VD, S 3 9 0.6 1.0 IPRV, WLRS, LS IPRV, WLRS, LS, ME IPRV, WLRS, LS, NPA, PRL IPRV, WLRS, LS, ME, NPA
5 F VD 35 50 1.0 0.6 IPRV, WLRS IPRV, WLRS IPRV, WLRS, NPA IPRV, WLRS, NPA
6 F VD 20 30 0.1 0.8 IPRV, WLRS, PoRD IPRV, WLRS IPRV, WLRS, PoRD, PRL IPRV, WLRS, PRL
13 M VD 21 21 0.01 0.3 IPRV, WLRS, PoRD, LS IPRV, WLRS IPRV, WLRS, NPA, PoRD, LS IPRV, WLRS, NPA, PRA, PRL
8 M VD, S 10 10 0.6 0.2 IPRV, WLRS, LS IPRV, WLRS, LS IPRV, WLRS, LS, NPA IPRV, WLRS, LS, NPA, PRL
9 M VD 24 33 0.6 0.6 IPRV, WLRS, LS IPRV, WLRS, LS IPRV, WLRS, LS, NPA, PRL IPRV, WLRS, LS, NPA, PRL
10 M VD, S 15 15 0.6 0.6 IPRV, WLRS IPRV, WLRS IPRV, WLRS, NPA IPRV, WLRS, NPA, PRA, PRL
11 M VD 30 34 FC 0.5 IPRV, WLRS IPRV, WLRS IPRV, WLRS, NPA, PRL IPRV, WLRS, NPA, PRL
12 M VD 18 24 1.0 0.8 IPRV, WLRS IPRV, WLRS, ME, FRF, PRE, IPRV IPRV, WLRS, NPA, PRA IPRV, WLRS, ME, FRF, PRE, IPRV, NPA
13 F VD, S 4 5 0.6 0.07 IPRV, WLRS IPRV, WLRS IPRV, WLRS, NPA IPRV, WLRS, NPA
  1. M, Male; F, Female; BCVA, best-corrected visual acuity; OD, right eye; OS, left eye; FFA, fluorescein fundus angiography; VD, vision decline; S, strabismus; IPRV, increased peripheral retinal vessels; WLRS, willow-like retinal vessels; FRF, falciform retinal folds; ME, macular ectopia; PRE, peripheral retinal exudates; PoRD, postoperative retinal detachment; LS, laser speckles; PRA, peripheral retinal avascularization; PRL, peripheral retinal leakage; NPA, No perfusion areas
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BMC Medical Genomics

ISSN: 1755-8794

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