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Exudative vitreoretinopathy 7(EVR7)

MedGen UID:
1626650
Concept ID:
C4539767
Disease or Syndrome
Synonyms: EVR7; EXUDATIVE VITREORETINOPATHY 7
 
Gene (location): CTNNB1 (3p22.1)
 
Monarch Initiative: MONDO:0033123
OMIM®: 617572

Clinical features

From HPO
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Retinal degeneration
MedGen UID:
48432
Concept ID:
C0035304
Finding
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.
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).
Retinal fold
MedGen UID:
115826
Concept ID:
C0229197
Finding
A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy.
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.

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
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
Tauqeer Z, Yonekawa Y
Asia Pac J Ophthalmol (Phila) 2018 May-Jun;7(3):176-182. Epub 2018 Apr 9 doi: 10.22608/APO.201855. PMID: 29633588

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