Display Settings:

Format

Send to:

Choose Destination

Wagner syndrome(WGN1)

MedGen UID:
452438
Concept ID:
C0339540
Disease or Syndrome
Synonyms: Erosive vitreoretinopathy; Erosive Vitreoretinopathy; Hyaloideoretinal degeneration of Wagner; VCAN-Related Vitreoretinopathy; Wagner disease; Wagner disease (formerly); Wagner syndrome type 1; Wagner vitreoretinal degeneration; WAGNER VITREORETINOPATHY; WGN1
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene: VCAN
Cytogenetic location: 5q14.2-14.3
OMIM®: 143200

Disease characteristics

Excerpted from the GeneReview: VCAN-Related Vitreoretinopathy
VCAN-related vitreoretinopathy, which includes Wagner syndrome and erosive vitreoretinopathy (ERVR), is characterized by “optically empty vitreous” on slit-lamp examination and avascular vitreous strands and veils, mild or occasionally moderate to severe myopia, presenile cataract, night blindness of variable degree associated with progressive chorioretinal atrophy, retinal traction and retinal detachment at advanced stages of the disease, and reduced visual acuity. Optic nerve inversion has also been described. Systemic abnormalities are not observed. The first signs usually become apparent during early adolescence, but onset can be as early as age two years. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  GeneReview Scope  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Barbara Kloeckener-Gruissem  |  Christoph Amstutz   view full author information

Additional descriptions

From OMIM
Wagner vitreoretinopathy is a rare vitreoretinal degeneration inherited as an autosomal dominant trait, first described in a large Swiss pedigree (Wagner, 1938) and subsequently identified in other families. Penetrance in Wagner syndrome is complete, and the disease manifests in childhood or adolescence with a progressive course. Affected individuals usually present with an 'empty' vitreous cavity with fibrillary condensation or avascular strands and veils. Additional features, which are variable and age-dependent, include chorioretinal atrophy with loss of the retinal pigment epithelium (RPE), lattice degeneration of the retina, complicated cataracts, mild myopia, and peripheral traction retinal detachment. Rod and cone electroretinography shows reduced b-wave amplitude and correlates with severe chorioretinal pathology. It is believed that liquefaction of vitreous initiates a degenerative cascade that results in the complex eye phenotype of Wagner syndrome (summary by Kloeckener-Gruissem et al., 2006). Patients with additional ocular features such as progressive nyctalopia (night blindness), visual field constriction, and chorioretinal atrophy, with loss of RPE and choriocapillaries on fluorescein angiography and rod-cone abnormalities on electroretinography, were initially believed to have a distinct clinical entity, which was designated 'erosive vitreoretinopathy' (ERVR). Extraocular abnormalities are not present in patients diagnosed with Wagner or erosive vitreoretinopathy (summary by Mukhopadhyay et al., 2006).  http://www.omim.org/entry/143200
From GHR
Wagner syndrome is a hereditary disorder that causes progressive vision loss. The eye problems that lead to vision loss typically begin in childhood, although the vision impairment might not be immediately apparent. In people with Wagner syndrome, the light-sensitive tissue that lines the back of the eye (the retina) becomes thin and may separate from the back of the eye (retinal detachment). The blood vessels within the retina (known as the choroid) may also be abnormal. The retina and the choroid progressively break down (degenerate). Some people with Wagner syndrome have blurred vision because of ectopic fovea, an abnormality in which the part of the retina responsible for sharp central vision is out of place. Additionally, the thick, clear gel that fills the eyeball (the vitreous) becomes watery and thin. People with Wagner syndrome develop a clouding of the lens of the eye (cataract). Affected individuals may also experience nearsightedness (myopia), progressive night blindness, or a narrowing of their field of vision. Vision impairment in people with Wagner syndrome can vary from near normal vision to complete loss of vision in both eyes.  http://ghr.nlm.nih.gov/condition/wagner-syndrome

Clinical features

Loss of retinal pigment epithelium
MedGen UID:
333564
Concept ID:
C1840457
Finding
Cataract
MedGen UID:
368085
Concept ID:
C1962983
Finding
Glaucoma
MedGen UID:
409541
Concept ID:
C1962986
Finding
Chorioretinal atrophy
MedGen UID:
504482
Concept ID:
CN000499
Finding
Atrophy of the choroid and retinal layers of the fundus.
Myopia
MedGen UID:
504487
Concept ID:
CN000511
Finding
An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
Visual loss
MedGen UID:
504502
Concept ID:
CN000537
Finding
Loss of visual acuity (implying that vision was better at a certain timepoint in live - otherwise the term is impaired vision or a subclass of that).
Optic atrophy
MedGen UID:
504537
Concept ID:
CN000609
Finding
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Vitreoretinal degeneration
MedGen UID:
504539
Concept ID:
CN000616
Finding
Gradual deterioration of the vitreous humor and retina.
Visual field defect
MedGen UID:
504735
Concept ID:
CN001055
Finding
Peripheral traction retinal detachment
MedGen UID:
428724
Concept ID:
CN006699
Finding

Recent clinical studies

Etiology

Chen X, Zhao K, Sheng X, Li Y, Gao X, Zhang X, Kang X, Pan X, Liu Y, Jiang C, Shi H, Chen X, Rong W, Chen LJ, Lai TY, Liu Y, Wang X, Yuan S, Liu Q, Vollrath D, Pang CP, Zhao C
Invest Ophthalmol Vis Sci 2013 Mar 1;54(3):2186-97. doi: 10.1167/iovs.12-10967. PMID: 23462753
Kloeckener-Gruissem B, Bartholdi D, Abdou MT, Zimmermann DR, Berger W
Mol Vis 2006 Apr 17;12:350-5. PMID: 16636652
Richards AJ, Martin S, Yates JR, Scott JD, Baguley DM, Pope FM, Snead MP
Br J Ophthalmol 2000 Apr;84(4):364-71. PMID: 10729292Free PMC Article

Diagnosis

Tran-Viet KN, Soler V, Quiette V, Powell C, Yanovitch T, Metlapally R, Luo X, Katsanis N, Nading E, Young TL
Mol Vis 2013;19:759-66. Epub 2013 Apr 5 PMID: 23592912Free PMC Article
Chen X, Zhao K, Sheng X, Li Y, Gao X, Zhang X, Kang X, Pan X, Liu Y, Jiang C, Shi H, Chen X, Rong W, Chen LJ, Lai TY, Liu Y, Wang X, Yuan S, Liu Q, Vollrath D, Pang CP, Zhao C
Invest Ophthalmol Vis Sci 2013 Mar 1;54(3):2186-97. doi: 10.1167/iovs.12-10967. PMID: 23462753
Brézin AP, Nedelec B, Barjol A, Rothschild PR, Delpech M, Valleix S
Mol Vis 2011;17:1669-78. Epub 2011 Jun 22 PMID: 21738396Free PMC Article
Ronan SM, Tran-Viet KN, Burner EL, Metlapally R, Toth CA, Young TL
Arch Ophthalmol 2009 Nov;127(11):1511-9. doi: 10.1001/archophthalmol.2009.273. PMID: 19901218Free PMC Article
Maumenee IH, Stoll HU, Mets MB
Trans Am Ophthalmol Soc 1982;80:349-65. PMID: 7182967Free PMC Article

Therapy

Chen X, Zhao K, Sheng X, Li Y, Gao X, Zhang X, Kang X, Pan X, Liu Y, Jiang C, Shi H, Chen X, Rong W, Chen LJ, Lai TY, Liu Y, Wang X, Yuan S, Liu Q, Vollrath D, Pang CP, Zhao C
Invest Ophthalmol Vis Sci 2013 Mar 1;54(3):2186-97. doi: 10.1167/iovs.12-10967. PMID: 23462753

Prognosis

Edwards AO
Eye (Lond) 2008 Oct;22(10):1233-42. Epub 2008 Feb 29 doi: 10.1038/eye.2008.38. [Epub ahead of print] PMID: 18309337
Meredith SP, Richards AJ, Flanagan DW, Scott JD, Poulson AV, Snead MP
Br J Ophthalmol 2007 May;91(5):655-9. Epub 2006 Oct 11 doi: 10.1136/bjo.2006.104406. [Epub ahead of print] PMID: 17035272Free PMC Article
Kloeckener-Gruissem B, Bartholdi D, Abdou MT, Zimmermann DR, Berger W
Mol Vis 2006 Apr 17;12:350-5. PMID: 16636652

Clinical prediction guides

Kloeckener-Gruissem B, Bartholdi D, Abdou MT, Zimmermann DR, Berger W
Mol Vis 2006 Apr 17;12:350-5. PMID: 16636652
Miyamoto T, Inoue H, Sakamoto Y, Kudo E, Naito T, Mikawa T, Mikawa Y, Isashiki Y, Osabe D, Shinohara S, Shiota H, Itakura M
Invest Ophthalmol Vis Sci 2005 Aug;46(8):2726-35. doi: 10.1167/iovs.05-0057. PMID: 16043844
Sarra GM, Weigell-Weber M, Kotzot D, Niemeyer G, Messmer E, Hergersberg M
Arch Ophthalmol 2003 Aug;121(8):1109-16. doi: 10.1001/archopht.121.8.1109. PMID: 12912687
Donoso LA, Edwards AO, Frost AT, Ritter R 3rd, Ahmad N, Vrabec T, Rogers J, Meyer D, Parma S
Surv Ophthalmol 2003 Mar-Apr;48(2):191-203. PMID: 12686304
Richards AJ, Martin S, Yates JR, Scott JD, Baguley DM, Pope FM, Snead MP
Br J Ophthalmol 2000 Apr;84(4):364-71. PMID: 10729292Free PMC Article

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...