Disease #02391 (EVR4 (vitreoretinopathy, exudative, type 4 (EVR4)), OMIM:601813)

Official abbreviation EVR4
Name vitreoretinopathy, exudative, type 4 (EVR4)
OMIM ID 601813
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant, Autosomal recessive
Individuals reported having this disease 24
Phenotype entries for this disease 3
Associated with 1 gene LRP5
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-04-30 09:59:01 +02:00 (CEST)


Individuals

24 entries on 1 page. Showing entries 1 - 24.
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00271379 Patient 1 PubMed: Fei 2014 2 generation family, 2 affected M no China - - - - - EVR4, EVR;FEVR familial exudative vitreoretinopaty (HP:0030490), low bone mineral density (HP:0004349) FZD4, LRP5, NDP, TSPAN12 LRP5 2 2 Jasmine Chen
00271380 Patient 2 PubMed: Fei 2014 2 generation family, 2 affected M no China - - - - - EVR4, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), leukocoria (HP:0000555) FZD4, LRP5, NDP, TSPAN12 LRP5 2 2 Jasmine Chen
00274074 68001 Patient 6 PubMed: Jiao 2004 PubMed: Shastry 1997 4 generation family, 4 affected F yes United States European - - - - EVR4, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), large retinal folds (HP:0008052), vitreous detachments (HP:0001489) LRP5 LRP5 1 4 Jasmine Chen
00274216 68002 Patient 7 PubMed: Jiao 2004 4 generation family, 2 affected M yes United States European - - - - EVR4, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), retinal detachment (HP:0000541) LRP5 LRP5 1 2 Jasmine Chen
00274217 68003 Patient 5 PubMed: Jiao 2004 4 generation family, 2 affected F yes United States European - - - photocoagulation, cyropexy, vitrectomy EVR4, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490) LRP5 LRP5 1 2 Jasmine Chen
00274218 3015 II:2 PubMed: Liu 2017 2 generation family, 1 affected M no China - - - - - EVR4, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), bilateral sickle-like retinal folds (HP:0008052) FZD4, LRP5, NDP, TSPAN12 LRP5 1 1 Jasmine Chen
00274219 3008 II:1 PubMed: Liu 2017 2 generation family, 2 affected F - China - - - - - EVR4, EVR;FEVR exudative vitreoretinopathy (HP: 0030490)macular fold on retina bilateral (HP:0008052) FZD4, LRP5, NDP, TSPAN12 LRP5 2 2 Jasmine Chen
00274220 3095 II:1 PubMed: Liu 2017 2 generation, 1 affected M no China - - - - - EVR4, EVR;FEVR exudative vitreoretinopathy (HP:0030490), bilateral macular folds (HP:0008052) FZD4, LRP5, TSPAN12 LRP5 1 1 Jasmine Chen
00274223 Family 1 IV:2 PubMed: Toomes 2004 4 generation family, 6 affected M yes United Kingdom (Great Britain) - - - - - EVR4, EVR;FEVR exudative vitreoretinopathy (HP:0030490) LRP5 LRP5 1 6 Jasmine Chen
00274224 Family 2 III:2 PubMed: Toomes 2004 3 generation family, 6 affected, 2 asymptomatic carriers M no United Kingdom (Great Britain) - - - - - EVR4, EVR;FEVR exudative vitreoretinopathy (HP:0030490) LRP5 LRP5 1 6 Jasmine Chen
00274225 Individual 1 PubMed: Toomes 2004 - ? ? United Kingdom (Great Britain) Indian - - - - EVR4, EVR;FEVR exudative vitreoretinopathy (HP:0030490) LRP5 LRP5 1 1 Jasmine Chen
00274226 Individual 2 PubMed: Toomes 2004 elderly British woman F ? United Kingdom (Great Britain) - - - - - EVR4, EVR;FEVR exudative vitreoretinopathy (HP:0030490), retinal folds (HP:0008052) LRP5 LRP5 1 1 Jasmine Chen
00274227 Individual 3 PubMed: Toomes 2004 - F ? United Kingdom (Great Britain) - - - - - EVR4, EVR;FEVR exudative vitreoretinopathy (HP:0030490), total retinal detachment (HP:0000541), retinoschisis (HP:0030502) LRP5 LRP5 1 1 Jasmine Chen
00274228 Patient 1 PubMed: Welinder 2015 2-generation family, 2 affected F no United States North European - - - - EVR4, OPPG bilateral retinal detachment (HP:0000541), severe osteopenia (HP:0000938) LRP5 LRP5 2 2 Jasmine Chen
00274229 Individual 4 PubMed: Toomes 2004 - M ? United Kingdom (Great Britain) Australian - - - surgery EVR4, EVR;FEVR exudative vitreoretinopathy (HP:0030490), phthisis (HP:0000667) LRP5 LRP5 1 1 Jasmine Chen
00274278 A IV:1 PubMed: Zhang 2016 4 generation family, 3 affected M yes India - - - - - EVR4, EVR;FEVR exudative vitreoretinopathy (HP:0030490) - LRP5 1 3 Jasmine Chen
00274279 B II:2 PubMed: Zhang 2016 2 generation family, 2 affected M no India - - - - - EVR4, EVR;FEVR exudative vitreoretinopathy (HP:0030490) - LRP5 1 2 Jasmine Chen
00274280 C III:1 PubMed: Zhang 2016 3 generation family, 2 affected M no India - - - - - EVR4, EVR;FEVR exudative vitreoretinopathy (HP:0030490) - LRP5 1 2 Jasmine Chen
00274281 D II:2 PubMed: Zhang 2016 2 generation family, 2 affected F no India - - - - - EVR4, EVR;FEVR exudative vitreoretinopathy (HP:0030490) - LRP5 1 2 Jasmine Chen
00274282 GC16755 Pt1 PubMed: Hull 2019 2 generation family, 2 affected M yes United Kingdom (Great Britain) - - - - - EVR4, EVR;FEVR exudative vitreoretinopathy (HP:0030490), microcephaly (HP:0000252), RE tractional retinal detachment (HP:0007917), LE total retinal detachment (HP:0000541) FZD4, LRP5 LRP5 1 2 Jasmine Chen
00274283 GC19160 Pt2 PubMed: Hull 2019 2 generation, 1 affected F no United Kingdom (Great Britain) - - - - - EVR4, EVR;FEVR exudative vitreoretinopathy (HP:0030490), microcephaly (HP:0000252), bilateral retinal folds (HP:0008052) LRP5 LRP5 2 1 Jasmine Chen
00416881 1 PubMed: Pefkianaki 2016 family 1, individual 1 (proband; no numbering in text, consecutive numbers given) M - - - - - - successfully treated with retinal cryotherapy and laser photocoagulation to areas of non-perfusion, leading to the resolution of exudative retinopathy EVR4 visual acuity: fix-and-follow, minimal in the right eye; intraocular pressure: 18 mm Hg both eyes; no iris or lens abnormality; funduscopy: right eye: extensive exudative maculopathy with shallow retinal detachment and peripheral telengiectatic retinal vessels extending temporally; left fundus: clinically normal; fluorescein angiography: right eye: temporal retinal dragging, extensive peripheral retinal non-perfusion, telangiectatic vessels, left eye: minimal peripheral non-perfusion and vascular looping without dragging, telangiectasia, or leakage; right xanthocoria and slight exotropia; subclinically affected father LRP5 LRP5 1 1 LOVD
00416882 2 PubMed: Pefkianaki 2016 family 1, individual 2 (proband's father; no numbering in text, consecutive numbers given) M - - - - - - - EVR4 fundus: mild signs of FEVR: hyperacute retinal vascular branching and slight retinal vascular traction LRP5 LRP5 1 1 LOVD
00416883 1 PubMed: Munier 2019 - M - - - - - - 23-gauge pars plana vitrectomy with associated encircling buckle EVR4 total tractional retinal detachment requiring multiple vitreoretinal surgeries in his right eye; last-recorded visual acuity 3 months earlier, right/left eye: 20/100, 20/50; ophthalmological examination at 17y: a decrease in visual acuity in his left eye to 20/63; fundus: temporal dragging of retinal vessels, peripheral exudation, and vitreoretinal tractions without retinal detachment; spectral-domain optical coherence tomography: vitreomacular traction with intraretinal cysts; central macular thickness: 283 um; re-evaluation 15 days later: progression to a lamellar macular hole; surgical procedure was suggested, 1 week later (before the surgery could be performed) acute metamorphopsia, visual acuity drop to 20/200; spectral-domain optical coherence tomography: full-thickness macular hole. Surgical management by 23-gauge pars plana vitrectomy with associated encircling buckle; posterior vitreous detachment was induced, internal limiting membrane peeled after staining with brilliant blue G, and SF6 was used as gas tamponade; 3 months postoperatively, visual acuity: 20/25. spectral-domain optical coherence tomography: sustained closure of the macular hole, with associated thinning of the neurosensory retina (central macular thickness: 166 um) LRP5 LRP5 3 1 LOVD
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