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Exudative vitreoretinopathy 1(EVR1)

MedGen UID:
343561
Concept ID:
C1851402
Disease or Syndrome
Synonyms: Criswick-Schepens syndrome; EVR1; EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL DOMINANT; FEVR, AUTOSOMAL DOMINANT; FZD4-Related Familial Exudative Vitreoretinopathy, Autosomal Dominant
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, 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.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Genes (locations): FZD4 (11q14.2); LRP5 (11q13.2)
OMIM®: 133780

Disease characteristics

Autosomal dominant familial exudative vitreoretinopathy (adFEVR) is characterized by failure of peripheral retinal vascularization. The visual problems and variable phenotype associated with adFEVR result from secondary complications caused by retinal ischemia. The retinal avascularity is probably present from birth and generates sequelae that stabilize in early adult life or progress in later life. Expressivity may be asymmetric and is highly variable, ranging from mild or asymptomatic to severe (e.g., registered as blind) within the same family. [from GeneReviews]
Authors:
Carmel Toomes  |  Louise Downey   view full author information

Additional descriptions

From OMIM
Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by Poulter et al., 2010). In 31 Chinese pedigrees clinically diagnosed with FEVR, Rao et al. (2017) analyzed 6 FEVR-associated genes and identified mutations in 12 of the probands, including 5 (16.1%) in LRP5, 3 (9.7%) in NDP, 2 (6.5%) in FZD4, and 1 (3.2%) in TSPAN12. In addition, a mutation in the KIF11 gene (148760) was identified in a patient who also exhibited microcephaly (MCLMR; 152950). The authors noted that their detection rate did not exceed 50%, suggesting that other FEVR-associated genes remained to be discovered. Genetic Heterogeneity of Familial Exudative Vitreoretinopathy Also see EVR2 (305390), caused by mutation in the NDP gene (300658) on chromosome Xp11; EVR3 (605750), mapped to 11p13-p12; EVR4 (601813), caused by mutations in the LRP5 gene (603506) on 11q13.4; EVR5 (613310), caused by mutation in the TSPAN12 gene (613138) on 7q31; EVR6 (616468), caused by mutation in the ZNF408 gene (616454) on 11p11; and EVR7 (617572), caused by mutation in the CTNNB1 gene (116806) on chromosome 3p22.  http://www.omim.org/entry/133780
From GHR
Familial exudative vitreoretinopathy is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the specialized light-sensitive tissue that lines the back of the eye. The disorder prevents blood vessels from forming at the edges of the retina, which reduces the blood supply to this tissue.The signs and symptoms of familial exudative vitreoretinopathy vary widely, even within the same family. In many affected individuals, the retinal abnormalities never cause any vision problems. In others, a reduction in the retina's blood supply causes the retina to fold, tear, or separate from the back of the eye (retinal detachment). This retinal damage can lead to vision loss and blindness. Other eye abnormalities are also possible, including eyes that do not look in the same direction (strabismus) and a visible whiteness (leukocoria) in the normally black pupil.Some people with familial exudative vitreoretinopathy also have reduced bone mineral density, which weakens bones and increases the risk of fractures.  https://ghr.nlm.nih.gov/condition/familial-exudative-vitreoretinopathy

Clinical features

Recurrent fractures
MedGen UID:
42094
Concept ID:
C0016655
Injury or Poisoning
Injuries involving the breaking of either several bones or one bone in two or more places.
Retinal vascular proliferation
MedGen UID:
20550
Concept ID:
C0035320
Pathologic Function
In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment.
Vitreous hemorrhage
MedGen UID:
12119
Concept ID:
C0042909
Pathologic Function
Bleeding within the vitreous compartment of the eye.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Subcapsular cataract
MedGen UID:
65903
Concept ID:
C0235259
Finding
A cataract that affects the region of the lens directly beneath the capsule of the lens.
Retinal exudate
MedGen UID:
116111
Concept ID:
C0240897
Finding
Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina.
Falciform retinal fold
MedGen UID:
488857
Concept ID:
C0344550
Congenital Abnormality
An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset.
Posterior vitreous detachment
MedGen UID:
140839
Concept ID:
C0423361
Disease or Syndrome
Separation of the vitreous humor from the retina.
Blindness
MedGen UID:
99138
Concept ID:
C0456909
Finding
Blindness is the condition of lacking visual perception due to physiological or neurological factors.
Peripheral retinal avascularization
MedGen UID:
338687
Concept ID:
C1851406
Finding
Retinal detachment
MedGen UID:
368440
Concept ID:
C1963229
Finding
Separation of the inner layers of the retina (neural retina) from the pigment epithelium.
Exudative vitreoretinopathy
MedGen UID:
892913
Concept ID:
C4072980
Disease or Syndrome

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Kang KB, Wessel MM, Tong J, D'Amico DJ, Chan RV
J Pediatr Ophthalmol Strabismus 2013 Sep-Oct;50(5):282-8. Epub 2013 Jun 4 doi: 10.3928/01913913-20130528-04. PMID: 23739460
Chen SN, Hwang JF, Lin CJ
Retina 2012 Feb;32(2):220-5. doi: 10.1097/IAE.0b013e31821c3ec5. PMID: 22277905
Mackey DA, Hewitt AW, Ruddle JB, Vote B, Buttery RG, Toomes C, Metlapally R, Li YJ, Tran-Viet KN, Malecaze F, Calvas P, Rosenberg T, Guggenheim JA, Young TL
Mol Vis 2011;17:2118-28. Epub 2011 Aug 10 PMID: 21850187Free PMC Article
Yang H, Xiao X, Li S, Mai G, Zhang Q
Mol Vis 2011 Apr 29;17:1128-35. PMID: 21552475Free PMC Article

Diagnosis

Garcia MD, Ventura CV, Berrocal AM
J Pediatr Ophthalmol Strabismus 2017 Nov 17;54:e71-e74. doi: 10.3928/01913913-20170907-03. PMID: 29156058
Campos-Obando N, Oei L, Hoefsloot LH, Kiewiet RM, Klaver CC, Simon ME, Zillikens MC
J Clin Endocrinol Metab 2014 Apr;99(4):1107-11. Epub 2014 Jan 13 doi: 10.1210/jc.2013-3238. PMID: 24423337
Kang KB, Wessel MM, Tong J, D'Amico DJ, Chan RV
J Pediatr Ophthalmol Strabismus 2013 Sep-Oct;50(5):282-8. Epub 2013 Jun 4 doi: 10.3928/01913913-20130528-04. PMID: 23739460

Prognosis

Hinds AM, Rosser E, Reddy MA
Ophthalmic Genet 2018 Jun;39(3):396-398. Epub 2018 Apr 4 doi: 10.1080/13816810.2018.1443342. PMID: 29617172

Clinical prediction guides

Campos-Obando N, Oei L, Hoefsloot LH, Kiewiet RM, Klaver CC, Simon ME, Zillikens MC
J Clin Endocrinol Metab 2014 Apr;99(4):1107-11. Epub 2014 Jan 13 doi: 10.1210/jc.2013-3238. PMID: 24423337

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