U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Exudative vitreoretinopathy 4(EVR4)

MedGen UID:
356171
Concept ID:
C1866176
Disease or Syndrome
Synonyms: EVR4; LRP5-Related Familial Exudative Vitreoretinopathy, Autosomal Dominant; LRP5-Related Familial Exudative Vitreoretinopathy, Autosomal Recessive
 
Gene (location): LRP5 (11q13.2)
 
Monarch Initiative: MONDO:0011151
OMIM®: 601813

Definition

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). For a discussion of genetic heterogeneity of familial exudative vitreoretinopathy, see EVR1 (133780). [from OMIM]

Additional description

From MedlinePlus Genetics
Familial exudative vitreoretinopathy is a hereditary disorder that can cause vision loss that worsens over time. This condition affects the retina, the specialized light-sensitive tissue that lines the back of the eye. In people with this disorder, blood vessels do not fully develop at the outer edges (periphery) of the retina, which reduces the blood supply to this tissue. This prolonged reduction in blood supply (chronic ischemia) causes continued damage to the retina and can lead to worsening of the condition. 

Some people with familial exudative vitreoretinopathy also have a condition known as osteoporosis-pseudoglioma syndrome, which is characterized by reduced bone density. People with this condition have weakened bones and an increased risk of fractures.

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. Other people with this condition develop abnormal vessels that leak. This  causes chronic inflammation which, over time, can lead to fluid under the retina (exudate). A reduction in the retina's blood supply causes the retina to fold, tear, or separate from the back of the eye (retinal detachment). The resulting 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.  https://medlineplus.gov/genetics/condition/familial-exudative-vitreoretinopathy

Clinical features

From HPO
Osteopenia
MedGen UID:
18222
Concept ID:
C0029453
Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Vitreous hemorrhage
MedGen UID:
12119
Concept ID:
C0042909
Pathologic Function
Bleeding within the vitreous compartment of the eye.
Tractional retinal detachment
MedGen UID:
509678
Concept ID:
C0154828
Pathologic Function
A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes.
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
Disease or Syndrome
Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.
Peripheral retinal avascularization
MedGen UID:
338687
Concept ID:
C1851406
Finding
Horizontal pendular nystagmus
MedGen UID:
356175
Concept ID:
C1866180
Congenital Abnormality
Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity.
Exudative vitreoretinopathy
MedGen UID:
892913
Concept ID:
C4072980
Disease or Syndrome

Professional guidelines

PubMed

Kitic N, Chapron T, Metge-Galatoire F, Chehaibou I, Caputo G, Abdelmassih Y
Retina 2024 Apr 1;44(4):669-679. doi: 10.1097/IAE.0000000000004005. PMID: 37973048
Dumbrăveanu L, Cușnir V, Bobescu D
Rom J Ophthalmol 2021 Oct-Dec;65(4):315-329. doi: 10.22336/rjo.2021.66. PMID: 35087972Free PMC Article
Moinuddin O, Sathrasala S, Jayasundera KT, Branham KH, Chang EY, Qian CX, Recchia FM, Fahim AT, Besirli CG
Ophthalmol Retina 2021 Jan;5(1):86-96. Epub 2020 Apr 9 doi: 10.1016/j.oret.2020.03.026. PMID: 32507488Free PMC Article

Recent clinical studies

Etiology

Wang X, Chen J, Xiong H, Yu X
PLoS One 2022;17(7):e0271326. Epub 2022 Jul 13 doi: 10.1371/journal.pone.0271326. PMID: 35830446Free PMC Article
Chen PY, Kang EY, Chen KJ, Ling XC, Chang YH, Wang NK, Liu L, Chen YP, Hwang YS, Lai CC, Wu WC
Sci Rep 2022 May 11;12(1):7694. doi: 10.1038/s41598-022-11455-7. PMID: 35546162Free PMC Article
Dumbrăveanu L, Cușnir V, Bobescu D
Rom J Ophthalmol 2021 Oct-Dec;65(4):315-329. doi: 10.22336/rjo.2021.66. PMID: 35087972Free PMC Article
Tao T, Xu N, Li J, Li H, Qu J, Yin H, Liang J, Zhao M, Li X, Huang L
Invest Ophthalmol Vis Sci 2021 Dec 1;62(15):4. doi: 10.1167/iovs.62.15.4. PMID: 34860240Free PMC Article
Fei P, Liu Z, He L, Li N, Xu L, Zhang M, Zhou Y, Li F, Wang H, Zhang Q, Huang Q, Li Y, Chen S, Guo W, Li Y, Liu Y, Lu J, Wang Y, Zhu X, Wang L, Wang Y, Xian J, Xu Y, Ji X, Liang T, Ren J, Zhang X, Li J, Zhao P
Acta Ophthalmol 2021 May;99(3):e415-e422. Epub 2020 Sep 15 doi: 10.1111/aos.14586. PMID: 32930484Free PMC Article

Diagnosis

Tsai ASH, Kang EYC, Wang NK, Lee H, Seo GH, Khang R, Wu WC
Retina 2023 Nov 1;43(11):1945-1950. doi: 10.1097/IAE.0000000000003868. PMID: 37339455
Qu N, Li W, Han DM, Gao JY, Yang ZT, Jiang L, Liu TB, Chen YX, Jiang XS, Zhou L, Wu JH, Huang X
Mol Genet Genomic Med 2022 Sep;10(9):e2021. Epub 2022 Jul 25 doi: 10.1002/mgg3.2021. PMID: 35876299Free PMC Article
Ho S, Tsang MH, Fung JL, Huang H, Chow CB, Cheng SS, Luk HM, Chung BH, Lo IF
Am J Med Genet A 2022 Jan;188(1):130-137. Epub 2021 Sep 24 doi: 10.1002/ajmg.a.62504. PMID: 34558805
Dumbrăveanu L, Cușnir V, Bobescu D
Rom J Ophthalmol 2021 Oct-Dec;65(4):315-329. doi: 10.22336/rjo.2021.66. PMID: 35087972Free PMC Article
Tao T, Xu N, Li J, Li H, Qu J, Yin H, Liang J, Zhao M, Li X, Huang L
Invest Ophthalmol Vis Sci 2021 Dec 1;62(15):4. doi: 10.1167/iovs.62.15.4. PMID: 34860240Free PMC Article

Therapy

Zhang W, Liu H, Chen Y, Zhang X, Gu VY, Xiao H, Yang Y, Yin J, Peng J, Zhao P
JAMA Ophthalmol 2024 Feb 1;142(2):133-139. doi: 10.1001/jamaophthalmol.2023.6198. PMID: 38236592Free PMC Article
Limon U, Sezgin Akçay BI
J Ocul Pharmacol Ther 2022 Mar;38(2):176-182. Epub 2021 Oct 15 doi: 10.1089/jop.2021.0072. PMID: 34665023
Dumbrăveanu L, Cușnir V, Bobescu D
Rom J Ophthalmol 2021 Oct-Dec;65(4):315-329. doi: 10.22336/rjo.2021.66. PMID: 35087972Free PMC Article
Manayath GJ, Ranjan R, Vidhate S, Narendran V
Retina 2020 Jan;40(1):135-144. doi: 10.1097/IAE.0000000000002343. PMID: 30312256
Gupta D, Ching J, Tornambe PE
Surv Ophthalmol 2018 Jul-Aug;63(4):579-588. Epub 2017 Aug 12 doi: 10.1016/j.survophthal.2017.08.002. PMID: 28807798

Prognosis

Li J, Wang C, Zhang S, Cai B, Pan B, Sun C, Qi X, Ma C, Fang W, Jin K, Bi X, Jin Z, Zhuang W
BMC Ophthalmol 2023 Nov 29;23(1):489. doi: 10.1186/s12886-023-03243-2. PMID: 38030997Free PMC Article
Chen C, Cheng Y, Zhang Z, Zhang X, Li J, Zhao P, Peng X
BMC Ophthalmol 2022 Aug 2;22(1):329. doi: 10.1186/s12886-022-02522-8. PMID: 35918671Free PMC Article
Dumbrăveanu L, Cușnir V, Bobescu D
Rom J Ophthalmol 2021 Oct-Dec;65(4):315-329. doi: 10.22336/rjo.2021.66. PMID: 35087972Free PMC Article
Manayath GJ, Ranjan R, Vidhate S, Narendran V
Retina 2020 Jan;40(1):135-144. doi: 10.1097/IAE.0000000000002343. PMID: 30312256
Tang M, Sun L, Hu A, Yuan M, Yang Y, Peng X, Ding X
Invest Ophthalmol Vis Sci 2017 Nov 1;58(13):5949-5957. doi: 10.1167/iovs.17-22577. PMID: 29181528

Clinical prediction guides

Wang Y, Zhang Z, Huang L, Sun L, Li S, Zhang T, Ding X
Genes (Basel) 2022 Apr 18;13(4) doi: 10.3390/genes13040713. PMID: 35456519Free PMC Article
Limon U, Sezgin Akçay BI
J Ocul Pharmacol Ther 2022 Mar;38(2):176-182. Epub 2021 Oct 15 doi: 10.1089/jop.2021.0072. PMID: 34665023
Yang J, Xiao X, Li S, Mai G, Jia X, Wang P, Sun W, Zhang Q
Am J Ophthalmol 2022 Mar;235:178-187. Epub 2021 Sep 25 doi: 10.1016/j.ajo.2021.09.017. PMID: 34582765
Manayath GJ, Ranjan R, Vidhate S, Narendran V
Retina 2020 Jan;40(1):135-144. doi: 10.1097/IAE.0000000000002343. PMID: 30312256
Tang M, Sun L, Hu A, Yuan M, Yang Y, Peng X, Ding X
Invest Ophthalmol Vis Sci 2017 Nov 1;58(13):5949-5957. doi: 10.1167/iovs.17-22577. PMID: 29181528

Recent systematic reviews

Britten-Jones AC, Gocuk SA, Goh KL, Huq A, Edwards TL, Ayton LN
Am J Ophthalmol 2023 May;249:57-73. Epub 2022 Dec 30 doi: 10.1016/j.ajo.2022.12.027. PMID: 36592879
Wang X, Chen J, Xiong H, Yu X
PLoS One 2022;17(7):e0271326. Epub 2022 Jul 13 doi: 10.1371/journal.pone.0271326. PMID: 35830446Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...