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Wagner syndrome(WGN1)

MedGen UID:
326741
Concept ID:
C1840452
Disease or Syndrome
Synonyms: Erosive Vitreoretinopathy; Hyaloideoretinal degeneration of Wagner; VCAN-Related Vitreoretinopathy; Wagner disease; Wagner disease (formerly); Wagner syndrome type 1; Wagner vitreoretinal degeneration; WAGNER VITREORETINOPATHY; WGN1
SNOMED CT: Wagner syndrome (232064001)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): VCAN (5q14.2-14.3)
 
HPO: HP:0030673
Monarch Initiative: MONDO:0007740
OMIM®: 143200
Orphanet: ORPHA898

Authors:
Barbara Kloeckener-Gruissem  |  Christoph Amstutz   view full author information

Additional descriptions

From OMIM
Wagner vitreoretinopathy (WGVRP) 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 MedlinePlus Genetics
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.  https://medlineplus.gov/genetics/condition/wagner-syndrome

Clinical features

From HPO
Glaucoma
MedGen UID:
42224
Concept ID:
C0017601
Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
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.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Vitreoretinopathy
MedGen UID:
87480
Concept ID:
C0344290
Disease or Syndrome
Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment.
Retinal pigment epithelial atrophy
MedGen UID:
333564
Concept ID:
C1840457
Finding
Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.
Visual loss
MedGen UID:
784038
Concept ID:
C3665386
Finding
Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).
Visual field defect
MedGen UID:
854603
Concept ID:
C3887875
Finding
An absolute or relative reduction in the extent of the normal field of vision.
Peripheral tractional retinal detachment
MedGen UID:
870380
Concept ID:
C4024825
Finding
Tractional retinal detachment at the periphery of the retina.
Chorioretinal atrophy
MedGen UID:
884881
Concept ID:
C4048273
Disease or Syndrome
Atrophy of the choroid and retinal layers of the fundus.
Exudative vitreoretinopathy
MedGen UID:
892913
Concept ID:
C4072980
Disease or Syndrome
Optically empty vitreous
MedGen UID:
892643
Concept ID:
C4073118
Anatomical Abnormality
Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVWagner syndrome
Follow this link to review classifications for Wagner syndrome in Orphanet.

Recent clinical studies

Etiology

Bleicher ID, Garg I, Hoyek S, Place E, Miller JB, Patel NA
Retin Cases Brief Rep 2024 Jan 1;18(1):80-86. doi: 10.1097/ICB.0000000000001307. PMID: 36007184
Trinh MV, Lee JG, Ferrone PJ
Ophthalmic Surg Lasers Imaging Retina 2023 Feb;54(2):97-101. Epub 2023 Feb 1 doi: 10.3928/23258160-20221118-01. PMID: 36780631
Araújo JR, Tavares-Ferreira J, Estrela-Silva S, Rocha P, Brandão E, Faria PA, Falcão-Reis F, Rocha-Sousa A
Graefes Arch Clin Exp Ophthalmol 2018 Jan;256(1):163-171. Epub 2017 Oct 25 doi: 10.1007/s00417-017-3800-0. PMID: 29071374
Rothschild PR, Burin-des-Roziers C, Audo I, Nedelec B, Valleix S, Brézin AP
Am J Ophthalmol 2015 Nov;160(5):1065-1072.e1. Epub 2015 Aug 15 doi: 10.1016/j.ajo.2015.08.012. PMID: 26284746
Richards AJ, Martin S, Yates JR, Scott JD, Baguley DM, Pope FM, Snead MP
Br J Ophthalmol 2000 Apr;84(4):364-71. doi: 10.1136/bjo.84.4.364. PMID: 10729292Free PMC Article

Diagnosis

Bleicher ID, Garg I, Hoyek S, Place E, Miller JB, Patel NA
Retin Cases Brief Rep 2024 Jan 1;18(1):80-86. doi: 10.1097/ICB.0000000000001307. PMID: 36007184
Ankala A, Jain N, Hubbard B, Alexander JJ, Shankar SP
Am J Med Genet A 2018 Aug;176(8):1778-1783. Epub 2018 Jul 28 doi: 10.1002/ajmg.a.38855. PMID: 30055036
Araújo JR, Tavares-Ferreira J, Estrela-Silva S, Rocha P, Brandão E, Faria PA, Falcão-Reis F, Rocha-Sousa A
Graefes Arch Clin Exp Ophthalmol 2018 Jan;256(1):163-171. Epub 2017 Oct 25 doi: 10.1007/s00417-017-3800-0. PMID: 29071374
Thomas AS, Branham K, Van Gelder RN, Daiger SP, Sullivan LS, Bowne SJ, Heckenlively JR, Pennesi ME
Ophthalmic Surg Lasers Imaging Retina 2016 Jun 1;47(6):574-9. doi: 10.3928/23258160-20160601-10. PMID: 27327288Free PMC Article
Rothschild PR, Burin-des-Roziers C, Audo I, Nedelec B, Valleix S, Brézin AP
Am J Ophthalmol 2015 Nov;160(5):1065-1072.e1. Epub 2015 Aug 15 doi: 10.1016/j.ajo.2015.08.012. PMID: 26284746

Therapy

Jewsbury H, Fry AE, Watts P, Nas V, Morgan J
J AAPOS 2014 Jun;18(3):291-3. Epub 2014 Apr 24 doi: 10.1016/j.jaapos.2013.12.014. PMID: 24767812
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. 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. 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

Ankala A, Jain N, Hubbard B, Alexander JJ, Shankar SP
Am J Med Genet A 2018 Aug;176(8):1778-1783. Epub 2018 Jul 28 doi: 10.1002/ajmg.a.38855. PMID: 30055036
Araújo JR, Tavares-Ferreira J, Estrela-Silva S, Rocha P, Brandão E, Faria PA, Falcão-Reis F, Rocha-Sousa A
Graefes Arch Clin Exp Ophthalmol 2018 Jan;256(1):163-171. Epub 2017 Oct 25 doi: 10.1007/s00417-017-3800-0. PMID: 29071374
Rothschild PR, Burin-des-Roziers C, Audo I, Nedelec B, Valleix S, Brézin AP
Am J Ophthalmol 2015 Nov;160(5):1065-1072.e1. Epub 2015 Aug 15 doi: 10.1016/j.ajo.2015.08.012. PMID: 26284746
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. doi: 10.1016/s0039-6257(02)00460-5. 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. doi: 10.1136/bjo.84.4.364. PMID: 10729292Free PMC Article

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