Disease #01372 (WGVRP (Wagner syndrome), OMIM:143200)

Official abbreviation WGVRP
Name Wagner syndrome
OMIM ID 143200
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 20
Phenotype entries for this disease 20
Associated with 1 gene VCAN
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

20 entries on 1 page. Showing entries 1 - 20.
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00079999 - - - - no France - - - - - WGVRP - VCAN VCAN 1 1 Burin des Roziers Cyril
00080000 - - - ? - - - - - - - WGVRP - VCAN VCAN 1 1 Burin des Roziers Cyril
00081742 - PubMed: Miyamoto 2005, Journal: Miyamoto 2005 4-generation family, 13 affecteds (6F, 7M) F;M yes Japan - - - - - WGVRP see paper; ..., ocular phenotypes includes empty vitreous with fibrillary condensations, avascular membrane, perivascular sheathing, progressive chorioretinal dystrophy (similar to Wagner syndrome) VCAN VCAN 1 13 Johan den Dunnen
00081743 - PubMed: Kloeckener-Gruissem 2006, Wagner 1938, Augenheilkd. 100:840-858 5-generation family, 36 affecteds (17F, 19M) F;M - Switzerland - - - - - WGVRP see paper; ... VCAN VCAN 2 36 Johan den Dunnen
00417399 FamW95-023 PubMed: Mukhopadhyay 2006 5-generation family, 19 affected (7F, 12M) F;M no Netherlands - - - - - WGVRP see paper VCAN VCAN 1 19 Johan den Dunnen
00417400 FamW95-131 PubMed: Mukhopadhyay 2006 5-generation family, 35 affected (17F, 11M) F;M no Netherlands - - - - - WGVRP see paper VCAN VCAN 1 35 Johan den Dunnen
00417401 FamW95-038 PubMed: Mukhopadhyay 2006 3-generation family, 9 affected (3F, 4M) F;M no Netherlands - - - - - WGVRP see paper VCAN VCAN 1 9 Johan den Dunnen
00417402 FamW04-153 PubMed: Mukhopadhyay 2006 5-generation family, 17 affected (6F, 11M) F;M no Netherlands - - - - - WGVRP see paper VCAN VCAN 1 17 Johan den Dunnen
00417403 FamW95-124 PubMed: Mukhopadhyay 2006 4-generation family, 10 affected (6F, 4M) F;M no Netherlands - - - - - WGVRP see paper VCAN VCAN 1 10 Johan den Dunnen
00417404 FamW05-088 PubMed: Mukhopadhyay 2006 4-generation family, 13 affected (4F, 7M) F;M no Netherlands - - - - - WGVRP see paper VCAN VCAN 1 13 Johan den Dunnen
00417405 FamW95-137 PubMed: Mukhopadhyay 2006 3-generation family, 2 affected (2M), father/son M no Netherlands - - - - - WGVRP see paper VCAN VCAN 1 13 Johan den Dunnen
00417406 family PubMed: Brezin 2011 5-generation family, 13 affected (7F, 6M) F;M - France - - - - - WGVRP see paper VCAN VCAN 1 13 Johan den Dunnen
00417407 FamFL PubMed: Kloeckener-Gruissem 2013 4-generation family 21 affected (10F, 11M) F;M - France - - - - - WGVRP see paper VCAN VCAN 1 21 Johan den Dunnen
00417408 FamBC PubMed: Kloeckener-Gruissem 2013 5-generation family, 14 affected (11F, 3M) F;M - United Kingdom (Great Britain) - - - - - WGVRP see paper VCAN VCAN 1 14 Johan den Dunnen
00424062 1 PubMed: Ronan 2009 3-generation family, proband's maternal grandfather M - - white - - - - WGVRP ophtalmological examinations right, left eye (no view of fundus because of opacity of anterior ocular media): best corrected visual acuity: hand movement, 20/25; recent refraction spherical equivalent: -0.875, 0.25; past (presurgical) refraction spherical equivalent: not available, not available; axial length, mm: not available, 23.44; lens status: anterior chamber intraocular lens pupillary membrane, anterior chamber intraocular lens; retinal detachment age, y:not available; surgery: cataract extraction/intraocular lens tube shunt, cataract extraction/intraocular lens; optically empty vitreous: not available, yes; vitreal avascular membranes: not available, yes; retinal traction: not available, none; chorioretinal atrophy: not available, mild; retinal pigmentary changes: not available, mild; ocular alignment: orthophoria, orthophoria; visual field: not available, paracentral scotoma VCAN VCAN 1 1 LOVD
00424063 4 PubMed: Ronan 2009 3-generation family, proband's mother F - - white - - - - WGVRP ophtalmological examinations right, left eye: best corrected visual acuity: 20/20, 20/25; recent refraction spherical equivalent: -2, -0.25; past (presurgical) refraction spherical equivalent: not available, not available; axial length, mm: 24.69, 24.46; lens status: posterior chamber intraocular lens, posterior chamber intraocular lens; retinal detachment age, y:not available; surgery: cataract extraction/intraocular lens, cataract extraction/intraocular lens; optically empty vitreous: yes, yes; vitreal avascular membranes: yes, yes; retinal traction: moderate, moderate; chorioretinal atrophy: moderate, moderate; retinal pigmentary changes: moderate, moderate; ocular alignment: exotropia, exotropia; visual field: ring scotoma, ring scotoma VCAN VCAN 1 1 LOVD
00424064 6 PubMed: Ronan 2009 3-generation family, proband's mother's sister F - - white - - - - WGVRP ophtalmological examinations right, left eye (no view of fundus because of opacity of anterior ocular media): best corrected visual acuity: no light perception, 20/400; recent refraction spherical equivalent: not available, Plano; past (presurgical) refraction spherical equivalent: not available, not available; axial length, mm: not available, 22.38; lens status: Dense nuclear sclerotic cataract, posterior chamber intraocular lens; retinal detachment age, y:5; surgery: scleral buckle/pars plana vitrectomy, none; optically empty vitreous: not available, yes; vitreal avascular membranes: not available, yes; retinal traction: not available, mild; chorioretinal atrophy: not available, severe; retinal pigmentary changes: not available, severe; ocular alignment: exotropia, exotropia; visual field: not available, severe constriction VCAN VCAN 1 1 LOVD
00424065 8 PubMed: Ronan 2009 3-generation family, proband M - - white - - - - WGVRP ophtalmological examinations right, left eye: best corrected visual acuity: 20/20, 20/32; recent refraction spherical equivalent: not available, -1; past (presurgical) refraction spherical equivalent: (age 14 y) -1.00 + 1.00 x 90, (age 14 y) -1.00 + 2.00 x 90; axial length, mm: 24.56, 25.07; lens status: Clear, Clear; retinal detachment age, y:not available; surgery: none, scleral buckle/pars plana vitrectomy; optically empty vitreous: yes, yes; vitreal avascular membranes: yes, yes; retinal traction: severe, severe; chorioretinal atrophy: none, none; retinal pigmentary changes: none, none; ocular alignment: orthophoria, orthophoria; visual field: enlarged blind spot, paracentral scotoma VCAN VCAN 1 1 LOVD
00424066 10 PubMed: Ronan 2009 3-generation family, proband's mother's sister's son M - - white - - - - WGVRP ophtalmological examinations right, left eye (no view of fundus because of opacity of anterior ocular media): best corrected visual acuity: no light perception, 20/160; recent refraction spherical equivalent: not available, -0.25; past (presurgical) refraction spherical equivalent: (age 4 y) +2.50 sph, (age 4 y) +2.50 sph; axial length, mm: not available, 22.18; lens status: Dense nuclear sclerotic cataract, Clear; retinal detachment age, y:9; surgery: scleral buckle/pars plana vitrectomy, none; optically empty vitreous: not available, yes; vitreal avascular membranes: not available, yes; retinal traction: not available, moderate; chorioretinal atrophy: not available, severe; retinal pigmentary changes: not available, severe; ocular alignment: orthophoria, orthophoria; visual field: not available, moderate constriction VCAN VCAN 1 1 LOVD
00424067 11 PubMed: Ronan 2009 3-generation family, proband's mother's sister's daughter F - - white - - - - WGVRP ophtalmological examinations right, left eye: best corrected visual acuity: 20/200, 20/50; recent refraction spherical equivalent: -3.25, 0.75; past (presurgical) refraction spherical equivalent: (age 2.5 y) 1.25 + 3.00 x 90, (age 2.5 y) -1.50+ 4.25 x 95; axial length, mm: 23.62, 22.85; lens status: posterior subcapsular cataract, Clear; retinal detachment age, y:8; surgery: scleral buckle/pars plana vitrectomy, none; optically empty vitreous: not availabled, yes; vitreal avascular membranes: not availabled, yes; retinal traction: none, none; chorioretinal atrophy: moderate, moderate; retinal pigmentary changes: none, none; ocular alignment: exotropia, exotropia; visual field: nasal scotoma, superior scotoma VCAN VCAN 1 1 LOVD
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