Disease #01327 (EVR1 (vitreoretinopathy, exudative, type 1 (EVR1)), OMIM:133780)

Official abbreviation EVR1
Name vitreoretinopathy, exudative, type 1 (EVR1)
OMIM ID 133780
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 174
Phenotype entries for this disease 166
Associated with 1 gene FZD4
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-04-30 09:58:15 +02:00 (CEST)


Individuals

174 entries on 2 pages. Showing entries 1 - 100.
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00265244 Patient 1 Montecinos-Contreras 2016 (son PubMed: Montecinos-Contreras 2016 2-generation family, affected mother/son M ? Mexico - 13y - yes - EVR1 Peripheral retinal avascularization HP:0007685 - FZD4 1 2 Dimitra Ilektra Lerou
00265246 Patient 2 Montecinos-Contreras 2016 (mother) PubMed: Montecinos-Contreras 2016 2-generation family, affected mother/son F ? Mexico - 53y - yes - EVR1 Peripheral retinal avascularization HP:0007685 - FZD4 1 1 Dimitra Ilektra Lerou
00274320 E1 II:1 PubMed: Wu 2016 2 generation family, 2 affected (1 non-penetrant carrier) M no Taiwan - - - - - EVR1, EVR;FEVR exudative vitreoretinopathy (HP:0030490) FZD4, LRP5, NDP, TSPAN12, ZNF408 FZD4 1 2 Jasmine Chen
00274321 E10 III:10 PubMed: Wu 2016 4 generation family, 5 affected (4 nonpenetrant carriers) F no Taiwan - - - - - EVR1, EVR;FEVR exudative vitreoretinopathy (HP:0030490) FZD4, LRP5, NDP, TSPAN12, ZNF408 FZD4 1 5 Jasmine Chen
00274891 Patient 1 Iwata 2019 PubMed: Iwata 2019 sister of proband had FEVR in infancy and required photocoagulation M no Japan - 03y - - - EVR1 Peripheral retinal avascularization HP:0007685 Vitreous hemorrhage HP:0007902 Vitreomacular traction HP:0031151 - FZD4 1 1 Dimitra Ilektra Lerou
00275005 Patient 1 Bochicchio 2017 PubMed: Bochicchio 2017 - F no Italy Hispanic 28y - - - EVR1 Esotropia HP:0000565 Corneal opacity HP:0007957 Retinal neovascularization HP:0030666 FZD4, LRP5, NDP, TSPAN12 FZD4 2 1 Dimitra Ilektra Lerou
00275007 Patient 1 Mammo 2015 PubMed: Mammo 2015 - M no Taiwan - 00y08m - - - EVR1, SMA diagnosed with spinal muscular atrophy with SMN1 deletion, Leukocoria HP:0000555 Anterior chamber synechiae HP:0007833 Peripheral retinal avascularization HP:0007685 - FZD4 1 1 Dimitra Ilektra Lerou
00275439 Patient 1 Tang 2016 PubMed: Tang 2016 3-generation family, mutation-carrying grandfather, father and elder sister all asympotmatic M - China Southern Chinese 04y - - - EVR1 Retinal fold HP:0008052 Peripheral retinal avascularization HP:0007685 - FZD4 1 1 Dimitra Ilektra Lerou
00275442 Patient 2 Tang 2016 PubMed: Tang 2016 2-generation family, mutation-carrying mother and brother completely asymptomatic F no China Souther Chinese 14y - - - EVR1 Peripheral retinal avascularization HP:0007685 Retinal detachment HP:0000541 - FZD4 1 1 Dimitra Ilektra Lerou
00275444 Patient 3 Tang 2016 PubMed: Tang 2016 - M no China Southern Chinese 13y - - - EVR1 Retinal fold HP:0008052 - FZD4 1 1 Dimitra Ilektra Lerou
00275446 Patient 4 Tang 2016 PubMed: Tang 2016 mutation-carrying father and paternal uncle are clinically healthy with avascularity, mutation-carrying paternal aunt clinically healthy without any sign of retinopathy M no China Southern Chinese 11y - - - EVR1 Retinal detachment HP:0000541 Ectopic fovea HP:0025007 - FZD4 1 1 Dimitra Ilektra Lerou
00275448 Patient 5 Tang 2016 PubMed: Tang 2016 2-generation, affected but asymptomatic father M no China Southern Chinese 06y - - - EVR1 Ectopic fovea HP:0025007 Retinal fold HP:0008052 - FZD4 1 1 Dimitra Ilektra Lerou
00275450 Patient 6 Tang 2016 PubMed: Tang 2016 2-generation family, affected father/elder brother M no China Southern Chinese 08y - - - EVR1 Retinal fold HP:0008052 - FZD4 1 1 Dimitra Ilektra Lerou
00275451 Patient 7 Tang 2016 PubMed: Tang 2016 2-generation family, mutation-carrying mother/elder sister, elder sister asymptomatic F no China Southern Chinese 00y07m - - - EVR1 Retinal fold HP:0008052 - FZD4 1 1 Dimitra Ilektra Lerou
00275453 Patient 8 Tang 2016 PubMed: Tang 2016 2-generation family, mutation-carrying mother/sister both asymptomatic M no China Southern Chinese 08y - - - EVR1 Retinal fold HP:0008052 Peripheral retinal avascularization HP:0007685 Retinal neovascularization HP:0030666 - FZD4 1 1 Dimitra Ilektra Lerou
00275454 Patient 9 Tang 2016 PubMed: Tang 2016 - F no China Southern Chinese 26y - - - EVR1 Retinal neovascularization HP:0030666 Peripheral retinal avascularization HP:0007685 Vitreous hemorrhage HP:0007902 - FZD4 1 1 Dimitra Ilektra Lerou
00275455 Patient 10 Tang 2016 PubMed: Tang 2016 2-generation family, mother affected but asymptomatic F no China Southern Chinese 03y - - - EVR1 Retinal fold HP:0008052 - FZD4 1 1 Dimitra Ilektra Lerou
00275457 Patient 11 Tang 2016 PubMed: Tang 2016 - M no China Southern Chinese 08y - - - EVR1 Retinal fold HP:0008052 - FZD4 1 1 Dimitra Ilektra Lerou
00275458 Patient 12 Tang 2016 PubMed: Tang 2016 2-generation family, affected father/son M no China Southern Chinese 15y - - - EVR1 Ectopic fovea HP:0025007 - FZD4 1 1 Dimitra Ilektra Lerou
00275459 Patient 13 Tang 2016 PubMed: Tang 2016 - M no China Southern Chinese 12y - - - EVR1 Retinal fold HP:0008052 - FZD4 1 1 Dimitra Ilektra Lerou
00275460 Patient 14 Tang 2016 PubMed: Tang 2016 - M no China Southern Chinese 10y - - - EVR1 - - FZD4 1 1 Dimitra Ilektra Lerou
00275462 Patient 15 Tang 2016 PubMed: Tang 2016 2-generation family, affected both children M no China Southern Chinese 10y - - - EVR1 - - FZD4 1 1 Dimitra Ilektra Lerou
00275463 Patient 16 Tang 2016 PubMed: Tang 2016 2-generation family, affected father/mother and two sons M no China Southern Chinese 15y - - - EVR1 - - FZD4 1 1 Dimitra Ilektra Lerou
00275464 Patient 17 Tang 2016 PubMed: Tang 2016 2-generation family, affected mother/son M no China Southern Chinese 05y - - - EVR1 - - FZD4 1 1 Dimitra Ilektra Lerou
00275465 Patient 18 Tang 2016 PubMed: Tang 2016 2-generation family, affected mother/daughter F no China Southern Chinese 00y02m - - - EVR1 - - FZD4 1 1 Dimitra Ilektra Lerou
00275466 Patient 19 Tang 2016 PubMed: Tang 2016 2-generation family, affected mother/son M no China Southern Chinese 02y - - - EVR1 - - FZD4 1 1 Dimitra Ilektra Lerou
00275467 Patient 20 Tang 2016 PubMed: Tang 2016 2-generation family, affected mother/som M no China Southern Chinese 04y - - - EVR1 - - FZD4 1 1 Dimitra Ilektra Lerou
00275468 Patient 21 Tang 2016 PubMed: Tang 2016 - M no China Southern Chinese 00y06m - - - EVR1 - - FZD4 1 1 Dimitra Ilektra Lerou
00275470 Patient 2 Omoto 2004 PubMed: Omoto 2004 2-generation family, affected mother/daughter F no Japan - 01y01m - - - EVR1 Remnants of the hyaloid vascular system HP:0007968 Exotropia HP:0000577 Retinal fold HP:0008052 - FZD4 1 1 Dimitra Ilektra Lerou
00275471 Patient 1 MacDonald 2005 PubMed: MacDonald 2005 - ? no (United States) - ? - - - EVR1 - - FZD4 2 1 Dimitra Ilektra Lerou
00286931 Fam1PatII1 PubMed: Xu 2019 2 generation family, 1 affected, unaffected heterozygous carrier parents M - China Chinese - - - - EVR1 axial length (OD/OS, mm): 17.3/22.8 intraocular pressure (OD/OS, mmHg): 15/19 - FZD4 1 1 Dong Sun
00287035 Fam2PatII1 PubMed: Xu 2019 2-generation family, affected father daughter F ? China Chinese - - - - EVR1 Axial length (OD/OS, mm): 21.4/24.3 Intraocular pressure (OD/OS, mmHg): 13/13 "The proband is a 2-year-old girl whose right retina exhibited a falciform fold under the temporal side, while the left one has a region without vessels and a crease beside the optic disc with vascular branches and thin vessels on the brim" - FZD4 1 2 Dong Sun
00287036 Fam2PatI1 PubMed: Xu 2019 father M - (China) Chinese - - - - EVR1 - - FZD4 1 1 Dong Sun
00287038 Fam3PatII2 PubMed: Xu 2019 2-generation family, affected father/son M ? China Chinese - - - - EVR1 the proband is a 2-year-old boy with falciform retinal detachment and dragged disc - FZD4 1 2 Dong Sun
00287039 Fam3PatI1 PubMed: Xu 2019 father M ? China Chinese - - - - EVR1 - - FZD4 1 1 Dong Sun
00287040 Fam4PatII1 PubMed: Xu 2019 2-generation family, affected mother/daughter F ? China Chinese - - - - EVR1 axial length (OD/OS, mm): 15/16.6 intraocular pressur (OD/OS, mmHg): 7/3 "the proband is a 3-year-old girl who exhibited retinal detachment and a vitreous haemorrhage phenotype with an abnormal result in the ultrasound examination - FZD4 1 2 Dong Sun
00287041 Fam4PatI2 PubMed: Xu 2019 mother F - China Chinese - - - - EVR1 - - FZD4 1 1 Dong Sun
00287042 Fam5PatII1 PubMed: Xu 2019 2-generation family, affected mother/daughter F ? China Chinese - - - - EVR1 axial length (OD/OS, mm): 22.2/21.2 intraocular pressure (OD/OS, mmHg): 10/8 "the proband exhibited a typical FEVR phenotype with a falciform fold connected to the back of crystal structures, retinal detachment on the infratemporal side and vitreous opacity." - FZD4 1 2 Dong Sun
00287043 Fam5PatI2 PubMed: Xu 2019 mother F - China Chinese - - - - EVR1 - - FZD4 1 1 Dong Sun
00287045 Fam6PatII1 PubMed: Xu 2019 2-generation family, affected father/son M ? China Chinese - - - - EVR1 axial length (OD/OS, mm): 22.3/18 intraocular pressure (OD/OS, mmHg): 7/3 "the proband has falciform fold con- nected to the back with proliferating crystal structures." - FZD4 1 2 Dong Sun
00287046 Fam6PatI1 PubMed: Xu 2019 father M ? China Chinese - - - - EVR1 "the proband's father is FEVR patient, and has falciform folds connected to the back with proliferating crystal structures." - FZD4 1 1 Dong Sun
00287048 Fam7PatII1 PubMed: Xu 2019 2-generation family, affected father/son M - China Chinese - - - - EVR1 axial length (OD/OS, mm): 20/20 intraocular pressure (OD/OS, mmHg):5/4 "the proband suffered from a dragged disc disconnected from the back, where there were crystals and vitreous opacity" - FZD4 1 2 Dong Sun
00287049 Fam7PatI1 PubMed: Xu 2019 father M ? China Chinese - - - - EVR1 "the affected father had a vitreous haemorrhage phenotype" - FZD4 1 1 Dong Sun
00416994 patient I-1 PubMed: Shastry 2004 proband F - - - - - - - EVR1 - FZD4 F5, FZD4 2 1 LOVD
00416995 patient II-2 PubMed: Shastry 2004 proband's daughter 2 F - - - - - - - EVR1 - FZD4 F5, FZD4 2 1 LOVD
00416996 patient II-3 PubMed: Shastry 2004 proband's daughter 3 F - - - - - - - EVR1 - FZD4 F5, FZD4 2 1 LOVD
00416997 patient II-4 PubMed: Shastry 2004 proband's son M - - - - - - - EVR1 - FZD4 F5, FZD4 2 1 LOVD
00416998 patient III-2 PubMed: Shastry 2004 proband's son's son 2 M - - - - - - - EVR1 - FZD4 F5, FZD4 2 1 LOVD
00417164 isolated G36D patient PubMed: Toomes 2004 family numbers and patient numbers unavailable; isolated G36D patient - - - - - - - - EVR1 no detailed clinical data FZD4 FZD4 1 1 LOVD
00417165 family M105T, individual 1 PubMed: Toomes 2004 family numbers and patient numbers unavailable; family M105T, individual 1; proband F - - British - - - - EVR1 presented to the clinic as an emergency case with a left macula-off rhegmatogenous retinal detachment (successfully repaired); inadequate vascularization of the peripheral temporal retina; best corrected visual acuity right, left eye: 6/9, 6/ 12-1 FZD4 FZD4 1 1 LOVD
00417166 family M105T, individual 2 PubMed: Toomes 2004 family numbers and patient numbers unavailable; family M105T, individual 2; proband's sister F - - British - - - - EVR1 severely affected, resulting in partial blindness FZD4 FZD4 1 1 LOVD
00417167 family M105T, individual 3 PubMed: Toomes 2004 family numbers and patient numbers unavailable; family M105T, individual 3; proband's sister's daughter F - - British - - - - EVR1 blind from a very young age, due to bilateral retinal detachment FZD4 FZD4 1 1 LOVD
00417168 family M157V, individual 1 PubMed: Toomes 2004 family numbers and patient numbers unavailable; family M157V, individual 1; large American family, four generations, nine affecteds, wide spectrum of phenotypes; three of these affected individuals, FEVR was diagnosed only by fluorescein angiography, and they had no clinical problems, whereas other affected individuals had a more severe range of phenotypes, including macular folds and retinal detachments - - - American - - - - EVR1 - FZD4 FZD4 1 1 LOVD
00417169 family M157V, individual 2 PubMed: Toomes 2004 family numbers and patient numbers unavailable; family M157V, individual 2; large American family, four generations, nine affecteds, wide spectrum of phenotypes; three of these affected individuals, FEVR was diagnosed only by fluorescein angiography, and they had no clinical problems, whereas other affected individuals had a more severe range of phenotypes, including macular folds and retinal detachments - - - American - - - - EVR1 - FZD4 FZD4 1 1 LOVD
00417170 family M157V, individual 3 PubMed: Toomes 2004 family numbers and patient numbers unavailable; family M157V, individual 3; large American family, four generations, nine affecteds, wide spectrum of phenotypes; three of these affected individuals, FEVR was diagnosed only by fluorescein angiography, and they had no clinical problems, whereas other affected individuals had a more severe range of phenotypes, including macular folds and retinal detachments - - - American - - - - EVR1 - FZD4 FZD4 1 1 LOVD
00417171 family M157V, individual 4 PubMed: Toomes 2004 family numbers and patient numbers unavailable; family M157V, individual 4; large American family, four generations, nine affecteds, wide spectrum of phenotypes; three of these affected individuals, FEVR was diagnosed only by fluorescein angiography, and they had no clinical problems, whereas other affected individuals had a more severe range of phenotypes, including macular folds and retinal detachments - - - American - - - - EVR1 - FZD4 FZD4 1 1 LOVD
00417172 family M157V, individual 5 PubMed: Toomes 2004 family numbers and patient numbers unavailable; family M157V, individual 5; large American family, four generations, nine affecteds, wide spectrum of phenotypes; three of these affected individuals, FEVR was diagnosed only by fluorescein angiography, and they had no clinical problems, whereas other affected individuals had a more severe range of phenotypes, including macular folds and retinal detachments - - - American - - - - EVR1 - FZD4 FZD4 1 1 LOVD
00417173 family M157V, individual 6 PubMed: Toomes 2004 family numbers and patient numbers unavailable; family M157V, individual 6; large American family, four generations, nine affecteds, wide spectrum of phenotypes; three of these affected individuals, FEVR was diagnosed only by fluorescein angiography, and they had no clinical problems, whereas other affected individuals had a more severe range of phenotypes, including macular folds and retinal detachments - - - American - - - - EVR1 - FZD4 FZD4 1 1 LOVD
00417174 family M157V, individual 7 PubMed: Toomes 2004 family numbers and patient numbers unavailable; family M157V, individual 7; large American family, four generations, nine affecteds, wide spectrum of phenotypes; three of these affected individuals, FEVR was diagnosed only by fluorescein angiography, and they had no clinical problems, whereas other affected individuals had a more severe range of phenotypes, including macular folds and retinal detachments - - - American - - - - EVR1 - FZD4 FZD4 1 1 LOVD
00417175 family M157V, individual 8 PubMed: Toomes 2004 family numbers and patient numbers unavailable; family M157V, individual 8; large American family, four generations, nine affecteds, wide spectrum of phenotypes; three of these affected individuals, FEVR was diagnosed only by fluorescein angiography, and they had no clinical problems, whereas other affected individuals had a more severe range of phenotypes, including macular folds and retinal detachments - - - American - - - - EVR1 - FZD4 FZD4 1 1 LOVD
00417176 family M157V, individual 9 PubMed: Toomes 2004 family numbers and patient numbers unavailable; family M157V, individual 9; large American family, four generations, nine affecteds, wide spectrum of phenotypes; three of these affected individuals, FEVR was diagnosed only by fluorescein angiography, and they had no clinical problems, whereas other affected individuals had a more severe range of phenotypes, including macular folds and retinal detachments - - - American - - - - EVR1 - FZD4 FZD4 1 1 LOVD
00417177 family c957delG, individual II PubMed: Toomes 2004 family numbers and patient numbers unavailable; family c957delG, individual II:2 M - - Australian - - - - EVR1 4y: peripheral retinal fold in the left eye associated with retinal traction; left eye: areas of preretinal fibrosis, both eyes: characteristic deficient vascularization of the peripheral retina; poor vision: best corrected visual acuity right, left eye: 6/48, 2/58 FZD4 FZD4 1 1 LOVD
00417178 family c957delG, individual I PubMed: Toomes 2004 family numbers and patient numbers unavailable; family c957delG, individual I:1 M - - Australian - - - - EVR1 asymptomatic FZD4 FZD4 1 1 LOVD
00417179 family c957delG, individual I PubMed: Toomes 2004 family numbers and patient numbers unavailable; family c957delG, individual I:2 M - - Australian - - - - EVR1 asymptomatic (presymptomatic?) FZD4 FZD4 1 1 LOVD
00417180 isolated S497F patient PubMed: Toomes 2004 family numbers and patient numbers unavailable; patient described as isolated, but mother also had symptoms; isolated S497F patient F - - British - - - - EVR1 disc-dragging in both eyes and localized retinal elevation temporally in both eyes with hemorrhage and gliosis; exudation present temporal to the left fovea; mother had dragged discs, and temporal sectors of pigment change typical of FEVR FZD4 FZD4 1 1 LOVD
00417181 family c1498delA, individual 1 PubMed: Toomes 2004 family numbers and patient numbers unavailable; family c1498delA, individual 1 (proband's father) - - - British - - - - EVR1 very little vision (hand movements only) in the left eye - microphthalmic with evidence of posterior lenticonus with lens opacity, a degenerative vitreous with a band extending from a small pale optic disc head with extensive chorioretinal mottling and attenuated retinal vasculature; right eye: was highly myopic with some cortical lens opacities vitreous was degenerative with a small myopic optic disc and diffuse nonspecific pigmentary changes in the retina; also has characteristics suggestive of additional disea FZD4 FZD4 1 1 LOVD
00417182 family c1498delA, individual 2 PubMed: Toomes 2004 family numbers and patient numbers unavailable; family c1498delA, individual 1 (proband) M - - British - - - - EVR1 mildly affected but able to drive; childhood surgery for strabismus, amblyopic left eye; detailed examination of his left eye was difficult because of lens opacities, but he had some linear circumferential vitreous opacities with areas of tractional retinal detachment and subretinal exudation FZD4 FZD4 1 1 LOVD
00417183 family c1501-1502delCT PubMed: Toomes 2004 family numbers and patient numbers unavailable; family c1501-1502delCT; three generations family, 12 affected members - may be related to the one described originally in Robitaille et al., 2002; - - - North American family - - - - EVR1 full-term, uncomplicated pregnancy; temporal dragging of the macula and optic nerve, widespread peripheral retinal avascularity, and extraretinal neovascularization FZD4 FZD4 1 1 LOVD
00417184 family c1501-1502delCT PubMed: Toomes 2004 family numbers and patient numbers unavailable; family c1501-1502delCT; three generations family, 12 affected members - may be related to the one described originally in Robitaille et al., 2002; - - - North American family - - - - EVR1 whole family description: manifested ophthalmic features within the first decade of life, most severely visually disabled by the second decade; untreated members of this family had bilateral cicatrized tractional retinal detachments with subretinal cholesterol crystals and chronic intraretinal exudates, no asymptomatic carriers of this mutation were identified, but only 6 affecteds had DNA analysis FZD4 FZD4 1 1 LOVD
00417185 family c1501-1502delCT PubMed: Toomes 2004 family numbers and patient numbers unavailable; family c1501-1502delCT; three generations family, 12 affected members - may be related to the one described originally in Robitaille et al., 2002; - - - North American family - - - - EVR1 whole family description: manifested ophthalmic features within the first decade of life, most severely visually disabled by the second decade; untreated members of this family had bilateral cicatrized tractional retinal detachments with subretinal cholesterol crystals and chronic intraretinal exudates, no asymptomatic carriers of this mutation were identified, but only 6 affecteds had DNA analysis FZD4 FZD4 1 1 LOVD
00417186 family c1501-1502delCT PubMed: Toomes 2004 family numbers and patient numbers unavailable; family c1501-1502delCT; three generations family, 12 affected members - may be related to the one described originally in Robitaille et al., 2002; - - - North American family - - - - EVR1 whole family description: manifested ophthalmic features within the first decade of life, most severely visually disabled by the second decade; untreated members of this family had bilateral cicatrized tractional retinal detachments with subretinal cholesterol crystals and chronic intraretinal exudates, no asymptomatic carriers of this mutation were identified, but only 6 affecteds had DNA analysis FZD4 FZD4 1 1 LOVD
00417187 family c1501-1502delCT PubMed: Toomes 2004 family numbers and patient numbers unavailable; family c1501-1502delCT; three generations family, 12 affected members - may be related to the one described originally in Robitaille et al., 2002; - - - North American family - - - - EVR1 whole family description: manifested ophthalmic features within the first decade of life, most severely visually disabled by the second decade; untreated members of this family had bilateral cicatrized tractional retinal detachments with subretinal cholesterol crystals and chronic intraretinal exudates, no asymptomatic carriers of this mutation were identified, but only 6 affecteds had DNA analysis FZD4 FZD4 1 1 LOVD
00417188 family c1501-1502delCT PubMed: Toomes 2004 family numbers and patient numbers unavailable; family c1501-1502delCT; three generations family, 12 affected members - may be related to the one described originally in Robitaille et al., 2002; - - - North American family - - - - EVR1 whole family description: manifested ophthalmic features within the first decade of life, most severely visually disabled by the second decade; untreated members of this family had bilateral cicatrized tractional retinal detachments with subretinal cholesterol crystals and chronic intraretinal exudates, no asymptomatic carriers of this mutation were identified, but only 6 affecteds had DNA analysis FZD4 FZD4 1 1 LOVD
00417189 family Q505X, individual II:1 PubMed: Toomes 2004 family numbers and patient numbers unavailable; family Q505X, individual II:1 M - - Australian - - - - EVR1 leukocoria (a white mass behind the pupil due to a total retinal detachment) FZD4 FZD4 1 1 LOVD
00417190 family Q505X, individual II:2 PubMed: Toomes 2004 family numbers and patient numbers unavailable; family Q505X, individual II:2 F - - Australian - - - - EVR1 - FZD4 FZD4 1 1 LOVD
00417191 family Q505X, individual III:5 PubMed: Toomes 2004 family numbers and patient numbers unavailable; family Q505X, individual III:5 M - - Australian - - - - EVR1 - FZD4 FZD4 1 1 LOVD
00417219 I_II:13 (12) PubMed: Muller 2008 family I; numbering does not match the actual position in the pedigree, number: family_position (publication number) F - - - - - - - EVR1 clinically described in Laqua et al.., 1980 FZD4 FZD4 1 1 LOVD
00417220 I_III:3 (3) PubMed: Muller 2008 family I; numbering does not match the actual position in the pedigree, number: family_position (publication number) F - - - - - - - EVR1 clinically described in Laqua et al.., 1980 FZD4 FZD4 1 1 LOVD
00417221 I_III:9 (5) PubMed: Muller 2008 family I; numbering does not match the actual position in the pedigree, number: family_position (publication number) F - - - - - - - EVR1 clinically described in Laqua et al.., 1980 FZD4 FZD4 1 1 LOVD
00417222 I_III:12 (8) PubMed: Muller 2008 family I; numbering does not match the actual position in the pedigree, number: family_position (publication number) M - - - - - - - EVR1 clinically described in Laqua et al.., 1980 FZD4 FZD4 1 1 LOVD
00417223 I_III:14 (10) PubMed: Muller 2008 family I; numbering does not match the actual position in the pedigree, number: family_position (publication number) F - - - - - - - EVR1 clinically described in Laqua et al.., 1980 FZD4 FZD4 1 1 LOVD
00417224 I_III:17 (13) PubMed: Muller 2008 family I; numbering does not match the actual position in the pedigree, number: family_position (publication number) F - - - - - - - EVR1 clinically described in Laqua et al.., 1980 FZD4 FZD4 1 1 LOVD
00417225 I_IV:1 (1) PubMed: Muller 2008 family I; numbering does not match the actual position in the pedigree, number: family_position (publication number) M - - - - - - - EVR1 clinically described in Laqua et al.., 1980 FZD4 FZD4 1 1 LOVD
00417226 I_IV:5 (5) PubMed: Muller 2008 family I; numbering does not match the actual position in the pedigree, number: family_position (publication number) M - - - - - - - EVR1 clinically described in Laqua et al.., 1980 FZD4 FZD4 1 1 LOVD
00417227 I_IV:8 (7) PubMed: Muller 2008 family I; numbering does not match the actual position in the pedigree, number: family_position (publication number) F - - - - - - - EVR1 clinically described in Laqua et al.., 1980 FZD4 FZD4 1 1 LOVD
00417228 I_IV:11 (10) PubMed: Muller 2008 family I; numbering does not match the actual position in the pedigree, number: family_position (publication number) F - - - - - - - EVR1 clinically described in Laqua et al.., 1980 FZD4 FZD4 1 1 LOVD
00417229 I_IV:13 (12) PubMed: Muller 2008 family I; numbering does not match the actual position in the pedigree, number: family_position (publication number) F - - - - - - - EVR1 clinically described in Laqua et al.., 1980 FZD4 FZD4 1 1 LOVD
00417230 I_V:2 (1) PubMed: Muller 2008 family I; numbering does not match the actual position in the pedigree, number: family_position (publication number) F - - - - - - - EVR1 clinically described in Laqua et al.., 1980 FZD4 FZD4 1 1 LOVD
00417231 I_V:5 (2) PubMed: Muller 2008 family I; numbering does not match the actual position in the pedigree, number: family_position (publication number) F - - - - - - - EVR1 clinically described in Laqua et al.., 1980 FZD4 FZD4 1 1 LOVD
00417232 I_V:6 (3) PubMed: Muller 2008 family I; numbering does not match the actual position in the pedigree, number: family_position (publication number) F - - - - - - - EVR1 clinically described in Laqua et al.., 1980 FZD4 FZD4 1 1 LOVD
00417233 I_V:7 PubMed: Muller 2008 family I; no numbering in the publication M - - - - - - - EVR1 clinically described in Laqua et al.., 1980 FZD4 FZD4 1 1 LOVD
00417234 I_V:8 (4) PubMed: Muller 2008 family I; numbering does not match the actual position in the pedigree, number: family_position (publication number) F - - - - - - - EVR1 clinically described in Laqua et al.., 1980 FZD4 FZD4 1 1 LOVD
00417235 I_V:9 PubMed: Muller 2008 family I; no numbering in the publication F - - - - - - - EVR1 clinically described in Laqua et al.., 1980 FZD4 FZD4 1 1 LOVD
00417236 I_VI:2 PubMed: Muller 2008 family I; no numbering in the publication M - - - - - - - EVR1 clinically described in Laqua et al.., 1980 FZD4 FZD4 1 1 LOVD
00417237 II_I:3 (3) PubMed: Muller 2008 family II; numbering does not match the actual position in the pedigree, number: family_position (publication number) F - - - - - - - EVR1 clinically described in Laqua et al.., 1980 FZD4 FZD4 1 1 LOVD
00417238 II_I:4 (4) PubMed: Muller 2008 family II; numbering does not match the actual position in the pedigree, number: family_position (publication number) M - - - - - - - EVR1 clinically described in Laqua et al.., 1980 FZD4 FZD4 1 1 LOVD
00417239 II_II:3 (3) PubMed: Muller 2008 family II; numbering does not match the actual position in the pedigree, number: family_position (publication number) F - - - - - - - EVR1 51y: unilateral blindness; unilateral total detachment of the retina with secondary divergent strabismus diagnosed in the right eye with a mature cataract; left eye: incomplete circular peripheral laser scars with full visual acuity and had been treated 11 years earlier (at the age of 41) in another clinic for suspected Wagner disease (ruled out because there was no peripheral degeneration); peripheral retina: circularly avascular with a wide temporal zone, temporally stretched vascular course with a proliferative fibrotic peripheral vascularization edge and striated vitreous compression papillary to temporal with a still adherent Weiss ring; left eye: electroretinogram: normal; panel D15 color spot test: unremarkable; 55y: no progression in the 4-year follow-up FZD4 FZD4 1 1 LOVD
00417240 II_III:3 (3) PubMed: Muller 2008 family II; proband's mother (index patient); numbering does not match the actual position in the pedigree, number: family_position (publication number) F - - - - - - - EVR1 31y: best corrected visual acuity one functional eye: 1.0 with unilateral myopia magna and deep amblyopia with meter chart visual acuity; temporal laser coagulation had been performed 8 years ago; retina: peripheral avascular areas on both sides when the temporal vascular arches were stretched; electroretinogram and electrooculogram: were performed to rule out hereditary retinal dystrophy - standard response within the 95% percentile according to the ISCEV standard; Arden quotient: normal; panel D15 color spot test: unremarkable in the functional eye; 36y: reduced visual acuity to 0.3; vitreofoveal traction at the onset of vitreous detachment with resolution of the foveal depression in optical coherence tomography, after 2 months spontaneous posterior vitreous detachment with visual acuity increasing to 0.8 FZD4 FZD4 1 1 LOVD
00417241 II_IV:2 (2) PubMed: Muller 2008 family II; proband's twin sister (index patient); numbering does not match the actual position in the pedigree, number: family_position (publication number) F - - - - - - - EVR1 no history of premature birth or oxygen administration; full visual acuity; fundoscopy: temporal stretched vascular arch without avascular areas which remained stable in the 4-year follow-up period FZD4 FZD4 1 1 LOVD
00417242 II_IV:3 (3) PubMed: Muller 2008 family II; proband (index patient); numbering does not match the actual position in the pedigree, number: family_position (publication number) M - - - - - - fractionated disseminated laser coagulation of the avascular areas (diode laser via head ophthalmoscope, approx. 1000 spots, 200 ms, 500-800 mW, 20 dpt magnifying glass) in 2 sessions under anesthesia EVR1 4y: best corrected visual acuity right/left eye: 0.4 / 0.5; fundoscopy: fibrotic ridge with exudates and peripherally avascular retinal surfaces on both sides temporally as well as residual vitreous hemorrhage; fractionated disseminated laser coagulation of the avascular areas (diode laser via head ophthalmoscope, approx. 1000 spots, 200 ms, 500-800 mW, 20 dpt magnifying glass) was performed in 2 sessions under anesthesia; over 4 years visual acuity right/left eye: 0.8 / 0.6 on the left in the following check-u FZD4 FZD4 1 1 LOVD
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