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Exudative vitreoretinopathy 6(EVR6)

MedGen UID:
902559
Concept ID:
C4225316
Disease or Syndrome
Synonym: EVR6
 
Gene (location): ZNF408 (11p11.2)
 
Monarch Initiative: MONDO:0014652
OMIM®: 616468

Definition

Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the ZNF408 gene. [from MONDO]

Clinical features

From HPO
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.
Retinal detachment
MedGen UID:
19759
Concept ID:
C0035305
Disease or Syndrome
Primary or spontaneous detachment of the retina occurs due to underlying ocular disease and often involves the vitreous as well as the retina. The precipitating event is formation of a retinal tear or hole, which permits fluid to accumulate under the sensory layers of the retina and creates an intraretinal cleavage that destroys the neurosensory process of visual reception. Vitreoretinal degeneration and tear formation are painless phenomena, and in most cases, significant vitreoretinal pathology is found only after detachment of the retina starts to cause loss of vision or visual field. Without surgical intervention, retinal detachment will almost inevitably lead to total blindness (summary by McNiel and McPherson, 1971).
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.
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.
Cortical cataract
MedGen UID:
82868
Concept ID:
C0271160
Acquired Abnormality
A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance.
Horizontal nystagmus
MedGen UID:
124399
Concept ID:
C0271385
Disease or Syndrome
Nystagmus consisting of horizontal to-and-fro eye movements.
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.
Nuclear cataract
MedGen UID:
140274
Concept ID:
C0392557
Finding
A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown.
Posterior vitreous detachment
MedGen UID:
140839
Concept ID:
C0423361
Disease or Syndrome
Separation of the vitreous humor from the retina.
Progressive visual loss
MedGen UID:
326867
Concept ID:
C1839364
Finding
A reduction of previously attained ability to see.
Patchy atrophy of the retinal pigment epithelium
MedGen UID:
870356
Concept ID:
C4024800
Finding
Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas.
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
Retinal hole
MedGen UID:
1642357
Concept ID:
C4551442
Disease or Syndrome
A small break in the retina.
Esodeviation
MedGen UID:
1641033
Concept ID:
C4551734
Disease or Syndrome
A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally.

Professional guidelines

PubMed

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
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
Chen C, Sun L, Li S, Huang L, Zhang T, Wang Z, Yu B, Luo X, Ding X
Exp Eye Res 2020 Oct;199:108165. Epub 2020 Jul 28 doi: 10.1016/j.exer.2020.108165. PMID: 32730767

Recent clinical studies

Etiology

Ozdek S, Tefon Aribas AB, Atalay HT
Graefes Arch Clin Exp Ophthalmol 2023 Dec;261(12):3449-3456. Epub 2023 Aug 15 doi: 10.1007/s00417-023-06184-0. PMID: 37581650
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
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
Chen C, Sun L, Li S, Huang L, Zhang T, Wang Z, Yu B, Luo X, Ding X
Exp Eye Res 2020 Oct;199:108165. Epub 2020 Jul 28 doi: 10.1016/j.exer.2020.108165. PMID: 32730767
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

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
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
Gao F, Wang J, Chen J, Wang X, Chen Y, Sun X
Graefes Arch Clin Exp Ophthalmol 2021 Aug;259(8):2379-2387. Epub 2021 Apr 19 doi: 10.1007/s00417-021-05172-6. PMID: 33876278Free 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
Chen C, Sun L, Li S, Huang L, Zhang T, Wang Z, Yu B, Luo X, Ding X
Exp Eye Res 2020 Oct;199:108165. Epub 2020 Jul 28 doi: 10.1016/j.exer.2020.108165. PMID: 32730767

Therapy

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
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
Manayath GJ, Ranjan R, Vidhate S, Narendran V
Retina 2020 Jan;40(1):135-144. doi: 10.1097/IAE.0000000000002343. PMID: 30312256
Yaguchi Y, Katagiri S, Fukushima Y, Yokoi T, Nishina S, Kondo M, Azuma N
Sci Rep 2016 Jul 26;6:30523. doi: 10.1038/srep30523. PMID: 27456314Free PMC Article
Sisk RA, Berrocal AM, Albini TA, Murray TG
Ophthalmic Surg Lasers Imaging 2010 Nov-Dec;41(6):582-92. Epub 2010 Aug 30 doi: 10.3928/15428877-20100830-03. PMID: 20839668

Prognosis

Huang L, Liang T, Lyu J, Jin H, Zhao P
Retina 2022 Jan 1;42(1):55-63. doi: 10.1097/IAE.0000000000003280. PMID: 34393211
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
El-Khoury S, Clement A, Chehaibou I, Abdelmassih Y, Edelson C, Metge F, Dureau P, Caputo G
Graefes Arch Clin Exp Ophthalmol 2020 Aug;258(8):1617-1623. Epub 2020 May 8 doi: 10.1007/s00417-020-04712-w. PMID: 32385748
Manayath GJ, Ranjan R, Vidhate S, Narendran V
Retina 2020 Jan;40(1):135-144. doi: 10.1097/IAE.0000000000002343. PMID: 30312256
Benson WE
Trans Am Ophthalmol Soc 1995;93:473-521. PMID: 8719692Free PMC Article

Clinical prediction guides

Huang L, Liang T, Lyu J, Jin H, Zhao P
Retina 2022 Jan 1;42(1):55-63. doi: 10.1097/IAE.0000000000003280. PMID: 34393211
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
Chen C, Sun L, Li S, Huang L, Zhang T, Wang Z, Yu B, Luo X, Ding X
Exp Eye Res 2020 Oct;199:108165. Epub 2020 Jul 28 doi: 10.1016/j.exer.2020.108165. PMID: 32730767
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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