Phenotypes for disease #01327 (EVR1 (vitreoretinopathy, exudative, type 1 (EVR1)), OMIM:133780)

166 entries on 2 pages. Showing entries 1 - 100.
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Individual ID     
0000203067 Peripheral retinal avascularization HP:0007685 Norrie-like retinopathy Familial Exudative Vitreoretinopathy Familial, autosomal dominant 13y 13y ? - - Dimitra Ilektra Lerou 00265244
0000203068 Peripheral retinal avascularization HP:0007685 Norrie-like retinopathy Familial Exudative Vitreoretinopathy Familial, autosomal dominant 53y 53y ? - - Dimitra Ilektra Lerou 00265246
0000209630 Peripheral retinal avascularization HP:0007685 Vitreous hemorrhage HP:0007902 Vitreomacular traction HP:0031151 Norrie-like retinopathy Familial Exudative Vitreoretinopathy Unknown 00y00m07d 00y00m07d 00y00m - - Dimitra Ilektra Lerou 00274891
0000209631 Esotropia HP:0000565 Corneal opacity HP:0007957 Retinal neovascularization HP:0030666 Norrie-like retinopathy Familial Exudative Vitreoretinopathy Unknown 28y 28y 28y - - Dimitra Ilektra Lerou 00275005
0000209632 Leukocoria HP:0000555 Anterior chamber synechiae HP:0007833 Peripheral retinal avascularization HP:0007685 Norrie-like retinopathy Familial Exudative Vitreoretinopathy Familial, autosomal dominant 00y08m 00y08m 00y08m - - Dimitra Ilektra Lerou 00275007
0000210065 Retinal fold HP:0008052 Peripheral retinal avascularization HP:0007685 Norrie-like retinopathy Familial Exudative Vitreoretinopathy Familial, autosomal dominant 04y 04y 04y - - Dimitra Ilektra Lerou 00275439
0000210067 Peripheral retinal avascularization HP:0007685 Retinal detachment HP:0000541 Norrie-like retinopathy Familial Exudative Vitreoretinopathy Familial, autosomal dominant 14y 14y 14y - - Dimitra Ilektra Lerou 00275442
0000210069 Retinal fold HP:0008052 Norrie-like retinopathy Familial Exudative Vitreoretinopathy Familial, autosomal dominant 13y 13y 13y - - Dimitra Ilektra Lerou 00275444
0000210071 Retinal detachment HP:0000541 Ectopic fovea HP:0025007 Norrie-like retinopathy Familial Exudative Vitreoretinopathy Familial, autosomal dominant 11y 11y 11y - - Dimitra Ilektra Lerou 00275446
0000210073 Ectopic fovea HP:0025007 Retinal fold HP:0008052 Norrie-like retinopathy Familial Exudative Vitreoretinopathy Familial, autosomal dominant 06y 06y 06y - - Dimitra Ilektra Lerou 00275448
0000210075 Retinal fold HP:0008052 Norrie-like retinopathy Familial Exudative Vitreoretinopathy Familial, autosomal dominant 08y 08y 08y - - Dimitra Ilektra Lerou 00275450
0000210076 Retinal fold HP:0008052 Norrie-like retinopathy Familial Exudative Vitreoretinopathy Familial, autosomal dominant 00y07m 00y07m 00y07m - - Dimitra Ilektra Lerou 00275451
0000210077 Retinal fold HP:0008052 Peripheral retinal avascularization HP:0007685 Retinal neovascularization HP:0030666 Norrie-like retinopathy Familial Exudative Vitreoretinopathy Familial, autosomal dominant 08y 08y 08y - - Dimitra Ilektra Lerou 00275453
0000210079 Retinal neovascularization HP:0030666 Peripheral retinal avascularization HP:0007685 Vitreous hemorrhage HP:0007902 Norrie-like retinopathy Familial Exudative Vitreoretinopathy Familial, autosomal dominant 26y 26y 26y - - Dimitra Ilektra Lerou 00275454
0000210080 Retinal fold HP:0008052 Norrie-like retinopathy Familial Exudative Vitreoretinopathy Familial, autosomal dominant 03y 03y 03y - - Dimitra Ilektra Lerou 00275455
0000210081 Retinal fold HP:0008052 Norrie-like retinopathy Familial Exudative Vitreoretinopathy Familial, autosomal dominant 08y 08y 08y - - Dimitra Ilektra Lerou 00275457
0000210082 Ectopic fovea HP:0025007 Norrie-like retinopathy Familial Exudative Vitreoretinopathy Familial, autosomal dominant 15y 15y 15y - - Dimitra Ilektra Lerou 00275458
0000210083 Retinal fold HP:0008052 Norrie-like retinopathy Familial Exudative Vitreoretinopathy Familial, autosomal dominant 12y 12y 12y - - Dimitra Ilektra Lerou 00275459
0000210085 - Norrie-like retinopathy Familial Exudative Vitreoretinopathy Familial, autosomal dominant 10y 10y 10y - - Dimitra Ilektra Lerou 00275460
0000210087 - Norrie-like retinopathy Familial Exudative Vitreoretinopathy Familial, autosomal dominant 10y 10y 10y - - Dimitra Ilektra Lerou 00275462
0000210088 - Norrie-like retinopathy Familial Exudative Vitreoretinopathy Familial, autosomal dominant 15y 15y 15y - - Dimitra Ilektra Lerou 00275463
0000210089 - Norrie-like retinopathy Familial Exudative Vitreoretinopathy Familial, autosomal dominant 05y 05y 05y - - Dimitra Ilektra Lerou 00275464
0000210090 - Norrie-like retinopathy Familial Exudative Vitreoretinopathy Familial, autosomal dominant 00y05m 00y05m 00y05m - - Dimitra Ilektra Lerou 00275465
0000210091 - Norrie-like retinopathy Familial Exudative Vitreoretinopathy Familial, autosomal dominant 02y 02y 02y - - Dimitra Ilektra Lerou 00275466
0000210092 - Norrie-like retinopathy Familial Exudative Vitreoretinopathy Familial, autosomal dominant 04y 04y 04y - - Dimitra Ilektra Lerou 00275467
0000210093 - Norrie-like retinopathy Familial Exudative Vitreoretinopathy Familial, autosomal dominant 00y06m 00y06m 00y06m - - Dimitra Ilektra Lerou 00275468
0000210095 Remnants of the hyaloid vascular system HP:0007968 Exotropia HP:0000577 Retinal fold HP:0008052 Norrie-like retinopathy Familial Exudative Vitreoretinopathy Familial, autosomal dominant 01y01m 01y01m 01y01m - - Dimitra Ilektra Lerou 00275470
0000210096 - Norrie-like retinopathy Familial Exudative Vitreoretinopathy Familial, autosomal dominant ? ? ? - - Dimitra Ilektra Lerou 00275471
0000220784 axial length (OD/OS, mm): 17.3/22.8 intraocular pressure (OD/OS, mmHg): 15/19 - FEVR Unknown 05y - - - - Dong Sun 00286931
0000220785 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" - FEVR Familial 02y - - - - Dong Sun 00287035
0000220786 - - FEVR Familial 34y - - - - Dong Sun 00287036
0000220787 the proband is a 2-year-old boy with falciform retinal detachment and dragged disc - FEVR Familial 02y - - - - Dong Sun 00287038
0000220788 - - FEVR Familial 32y - - - - Dong Sun 00287039
0000220789 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 - FEVR Familial 03y - - - - Dong Sun 00287040
0000220790 - - FEVR Familial 39y - - - - Dong Sun 00287041
0000220791 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." - FEVR Familial 01y - - - - Dong Sun 00287042
0000220792 - - FEVR Familial 30y - - - - Dong Sun 00287043
0000220794 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." - FEVR Familial 01y - - - - Dong Sun 00287045
0000220795 "the proband's father is FEVR patient, and has falciform folds connected to the back with proliferating crystal structures." - FEVR Familial 36y - - - - Dong Sun 00287046
0000220796 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" - FEVR Familial 01y - - - - Dong Sun 00287048
0000220798 "the affected father had a vitreous haemorrhage phenotype" - FEVR Familial 37y - - - - Dong Sun 00287049
0000308674 no detailed clinical data - familial exudative vitreoretinopathy Isolated (sporadic) - - - - - LOVD 00417164
0000308675 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 - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417165
0000308676 severely affected, resulting in partial blindness - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417166
0000308677 blind from a very young age, due to bilateral retinal detachment - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417167
0000308678 - - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417168
0000308679 - - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417169
0000308680 - - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417170
0000308681 - - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417171
0000308682 - - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417172
0000308683 - - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417173
0000308684 - - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417174
0000308685 - - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417175
0000308686 - - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417176
0000308687 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 - familial exudative vitreoretinopathy Familial, autosomal dominant 4y - - 8m - LOVD 00417177
0000308688 asymptomatic - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417178
0000308689 asymptomatic (presymptomatic?) - familial exudative vitreoretinopathy Familial, autosomal dominant 6y - - - - LOVD 00417179
0000308690 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 - familial exudative vitreoretinopathy Isolated (sporadic) - - - - - LOVD 00417180
0000308691 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 - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417181
0000308692 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 - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417182
0000308693 full-term, uncomplicated pregnancy; temporal dragging of the macula and optic nerve, widespread peripheral retinal avascularity, and extraretinal neovascularization - familial exudative vitreoretinopathy Familial, autosomal dominant - - - 20d - LOVD 00417183
0000308694 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 - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417184
0000308695 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 - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417185
0000308696 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 - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417186
0000308697 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 - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417187
0000308698 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 - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417188
0000308699 leukocoria (a white mass behind the pupil due to a total retinal detachment) - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417189
0000308700 - - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417190
0000308701 - - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417191
0000308732 clinically described in Laqua et al.., 1980 - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417219
0000308733 clinically described in Laqua et al.., 1980 - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417220
0000308734 clinically described in Laqua et al.., 1980 - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417221
0000308735 clinically described in Laqua et al.., 1980 - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417222
0000308736 clinically described in Laqua et al.., 1980 - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417223
0000308737 clinically described in Laqua et al.., 1980 - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417224
0000308738 clinically described in Laqua et al.., 1980 - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417225
0000308739 clinically described in Laqua et al.., 1980 - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417226
0000308740 clinically described in Laqua et al.., 1980 - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417227
0000308741 clinically described in Laqua et al.., 1980 - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417228
0000308742 clinically described in Laqua et al.., 1980 - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417229
0000308743 clinically described in Laqua et al.., 1980 - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417230
0000308744 clinically described in Laqua et al.., 1980 - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417231
0000308745 clinically described in Laqua et al.., 1980 - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417232
0000308746 clinically described in Laqua et al.., 1980 - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417233
0000308747 clinically described in Laqua et al.., 1980 - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417234
0000308748 clinically described in Laqua et al.., 1980 - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417235
0000308749 clinically described in Laqua et al.., 1980 - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417236
0000308750 clinically described in Laqua et al.., 1980 - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417237
0000308751 clinically described in Laqua et al.., 1980 - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417238
0000308752 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 - familial exudative vitreoretinopathy Familial, autosomal dominant 55y - - - - LOVD 00417239
0000308753 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 - familial exudative vitreoretinopathy Familial, autosomal dominant 36y - - - - LOVD 00417240
0000308754 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 - familial exudative vitreoretinopathy Familial, autosomal dominant 8y - - - - LOVD 00417241
0000308755 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 - familial exudative vitreoretinopathy Familial, autosomal dominant 8y - - - - LOVD 00417242
0000308770 highest stage of disease: 4b - familial exudative vitreoretinopathy Familial, autosomal dominant - - 7d - - LOVD 00417255
0000308771 highest stage of disease: 4a; rhegmatogenous retinal detachment - familial exudative vitreoretinopathy Familial, autosomal dominant - - 0m - - LOVD 00417256
0000308772 highest stage of disease: 4b - familial exudative vitreoretinopathy Familial, autosomal dominant - - 28d - - LOVD 00417257
0000308773 highest stage of disease: 4b - familial exudative vitreoretinopathy Familial, autosomal dominant - - 1m - - LOVD 00417258
0000308774 highest stage of disease: 2; rhegmatogenous retinal detachment - familial exudative vitreoretinopathy Familial, autosomal dominant - - 7y - - LOVD 00417259
0000308775 highest stage of disease: 5 - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417260
0000308776 - - familial exudative vitreoretinopathy Familial, autosomal dominant - - - - - LOVD 00417261
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