Disease #05301 (ROP (retinopathy of prematurity (ROP)))

Official abbreviation ROP
Name retinopathy of prematurity (ROP)
OMIM ID -
Inheritance -
Individuals reported having this disease 29
Phenotype entries for this disease 26
Associated with 1 gene FZD4
Associated tissues -
Disease features -
Remarks -
Date created 2017-07-06 15:07:07 +02:00 (CEST)
Date last edited N/A


Individuals

29 entries on 1 page. Showing entries 1 - 29.
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00106573 - Ells 2010 - - - - - - - - - ROP retinopathy of prematurity (ROP) FZD4 FZD4 1 1 Johan den Dunnen
00106581 - Ells 2010 - - - - - - - - - ROP retinopathy of prematurity (ROP) FZD4 FZD4 1 1 Johan den Dunnen
00274359 Patient 9 PubMed: Zhang 2019 - F ? China - - - - - ROP - FZD4, LRP5, NDP, TSPAN12 LRP5, TSPAN12 2 1 Jasmine Chen
00274453 Patient 25 PubMed: Zhang 2019 - M ? China - - - - - ROP - FZD4, LRP5, NDP, TSPAN12 LRP5 1 3 Jasmine Chen
00274454 Pat12/29 PubMed: Zhang 2019 2 cases M ? China - - - - - ROP - FZD4, LRP5, NDP, TSPAN12 TSPAN12 1 2 Jasmine Chen
00274458 - PubMed: Dickinson 2006 - M ? Australia - - - - - ROP Stage 2 retinopathy of prematurity (HP:0500051), mild hypermetropia at 01y06m (HP:0031728), born 25 weeks gestation, 950g, 3 months oxygen therapy, spontaneous regression NDP NDP 1 1 Jasmine Chen
00275472 Patient 2 MacDonald 2005 PubMed: MacDonald 2005 - ? no (United States) - ? - - - ROP - - FZD4 1 1 Dimitra Ilektra Lerou
00416975 11 PubMed: Wu 2007 - M - - - - - - - ROP no hearing impairment NDP NDP 1 1 LOVD
00417266 10 PubMed: Drenser 2009 - - - - - - - - - ROP highest stage of disease: 5; multiple comorbidities and poor health FZD4 FZD4 2 1 LOVD
00417267 10-2 PubMed: Drenser 2009 twin of 10 (mentioned in the paper, no numbering) - - - - - - - - ROP asymptomatic twin, had an uneventful course with no systemic maladies FZD4 FZD4 2 1 LOVD
00417268 10-3 PubMed: Drenser 2009 mother of 10 and 10-2 (mentioned in the paper, no numbering) F - - - - - - - ROP - FZD4 FZD4 2 1 LOVD
00417269 11 PubMed: Drenser 2009 - - - - - - - - - ROP highest stage of disease: 5; sole surviving triplet FZD4 FZD4 2 1 LOVD
00417270 11-2 PubMed: Drenser 2009 mother of 11 (mentioned in the paper, no numbering) F - - - - - - - ROP fluorescein angiography: peripheral avascular zone can be appreciated FZD4 FZD4 2 1 LOVD
00417271 12 PubMed: Drenser 2009 - - - - - - - - - ROP highest stage of disease: 4b FZD4 FZD4 2 1 LOVD
00417272 13 PubMed: Drenser 2009 - - - - - - - - - ROP highest stage of disease: 1 FZD4 FZD4 2 1 LOVD
00417273 ? PubMed: Ells 2010 father and the sibling: no signs of FEVR or similar retinal disease - - - white - - - - ROP born at 28 weeks of gestational age, birth weight of 880 grams; required laser treatment for threshold retinopathy of prematurity at 92 days of life; required only one laser treatment to each eye and the retinopathy of prematurity regressed rapidly with no cicatricial sequela FZD4 FZD4 1 1 LOVD
00417274 ? PubMed: Ells 2010 family unavailable to participate - - - white - - - - ROP born at 26 weeks of gestational age, birth weight of 780 grams; treated for threshold retinopathy of prematurity at 78d of life; required only one laser treatment to each eye and the retinopathy of prematurity regressed with no cicatricial sequela FZD4 FZD4 1 1 LOVD
00417275 ? PubMed: Ells 2010 mutation absent in the Caucasian mother and present in the Chinese father; fundus in both parents normal F - - white/Chinese - - - - ROP born at 24 weeks of gestational age, birth weight of 650 grams; required initial retinal laser surgery to each eye at 68 days of life and then required a second laser treatment to both eyes for progression of neovascular retinopathy of prematurity; mild cicatricial changes from the retinopathy of prematurity, such as mild straightening of temporal arcade vessels and high myopia (-9.00 diopters in both eyes); twin brother bearing no mutation; required two laser treatments as opposed to her brother who only required one treatment FZD4 FZD4 1 1 LOVD
00417371 16 PubMed: Dailey 2015 - - - - - - - - - ROP - FZD4 FZD4 1 1 LOVD
00417384 29 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - ROP - FZD4 FZD4 2 1 LOVD
00417385 30 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - ROP - FZD4 FZD4 2 1 LOVD
00417386 31 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - ROP - FZD4 FZD4 2 1 LOVD
00417387 32 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - ROP - FZD4 FZD4 2 1 LOVD
00417388 33 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - ROP - FZD4 FZD4 2 1 LOVD
00417389 34 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - ROP - FZD4 FZD4 2 1 LOVD
00417390 35 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - ROP - FZD4 FZD4 2 1 LOVD
00417395 40 PubMed: Dailey 2015 20 families, 24 members: mutation combination found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - ROP - FZD4 FZD4 1 1 LOVD
00417396 41 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - ROP - FZD4 FZD4 1 1 LOVD
00417397 42 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - ROP - FZD4 FZD4 1 1 LOVD
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