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Exudative vitreoretinopathy 5(EVR5)

MedGen UID:
412872
Concept ID:
C2750079
Disease or Syndrome
Synonyms: EVR5; TSPAN12-Related Familial Exudative Vitreoretinopathy, Autosomal Dominant
 
Gene (location): TSPAN12 (7q31.31)
 
Monarch Initiative: MONDO:0013218
OMIM®: 613310

Definition

Familial exudative vitreoretinopathy is an inherited blinding disorder caused by defects in the development of retinal vasculature. There is extensive variation in disease severity among patients, even between members of the same family. Severely affected individuals often are registered as blind during infancy and can present with a phenotype resembling retinal dysplasia. Conversely, mildly affected individuals frequently have few or no visual problems and may have just a small area of avascularity in their peripheral retina, detectable only by fluorescein angiography (summary by Poulter et al., 2012). For a discussion of genetic heterogeneity of familial exudative vitreoretinopathy (FEVR), see EVR1 (133780). [from OMIM]

Additional description

From MedlinePlus Genetics
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.

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.

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.   https://medlineplus.gov/genetics/condition/familial-exudative-vitreoretinopathy

Clinical features

From HPO
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.
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.
Shallow anterior chamber
MedGen UID:
602215
Concept ID:
C0423276
Finding
Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Exudative vitreoretinopathy
MedGen UID:
892913
Concept ID:
C4072980
Disease or Syndrome

Professional guidelines

PubMed

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
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

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
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
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
Gilmour DF
Eye (Lond) 2015 Jan;29(1):1-14. Epub 2014 Oct 17 doi: 10.1038/eye.2014.70. PMID: 25323851Free PMC Article

Diagnosis

Hu Y, Fan Z, Zhao X, Correa VSMC, Wu Z, Lu X, Zeng X, Chen L, Yu Z, Zheng L, He J, Zhang G
Invest Ophthalmol Vis Sci 2023 Oct 3;64(13):27. doi: 10.1167/iovs.64.13.27. PMID: 37850946Free 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
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
Young TL
Curr Opin Ophthalmol 2003 Oct;14(5):296-303. doi: 10.1097/00055735-200310000-00011. PMID: 14502058

Therapy

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
Lyu J, Zhang Q, Xu Y, Zhang X, Fei P, Zhao P
Retina 2021 Sep 1;41(9):1976-1985. doi: 10.1097/IAE.0000000000003122. PMID: 34432746Free PMC Article
Manayath GJ, Ranjan R, Vidhate S, Narendran V
Retina 2020 Jan;40(1):135-144. doi: 10.1097/IAE.0000000000002343. PMID: 30312256
Shields CL, Fulco EM, Arias JD, Alarcon C, Pellegrini M, Rishi P, Kaliki S, Bianciotto CG, Shields JA
Eye (Lond) 2013 Feb;27(2):253-64. Epub 2012 Sep 21 doi: 10.1038/eye.2012.175. PMID: 22995941Free PMC Article
Young TL
Curr Opin Ophthalmol 2003 Oct;14(5):296-303. doi: 10.1097/00055735-200310000-00011. PMID: 14502058

Prognosis

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
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
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
Benson WE
Trans Am Ophthalmol Soc 1995;93:473-521. PMID: 8719692Free PMC Article

Clinical prediction guides

Sudnawa KK, Garber A, Cohen R, Calamia S, Kanner CH, Montes J, Bain JM, Fee RJ, Chung WK
Clin Genet 2024 May;105(5):523-532. Epub 2024 Jan 21 doi: 10.1111/cge.14487. PMID: 38247296
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
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
Rao P, Lertjirachai I, Yonekawa Y, Hasbrook M, Thomas BJ, Wood EH, Mehta N, Mane G, Drenser KA, Trese MT, Capone A Jr
Retina 2020 Jul;40(7):1367-1373. doi: 10.1097/IAE.0000000000002623. PMID: 31404032
Manayath GJ, Ranjan R, Vidhate S, Narendran V
Retina 2020 Jan;40(1):135-144. doi: 10.1097/IAE.0000000000002343. PMID: 30312256

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

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