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Posterior vitreous detachment

MedGen UID:
140839
Concept ID:
C0423361
Disease or Syndrome
Synonym: Vitreous detachment
SNOMED CT: PVD - Posterior vitreous detachment (247081001); Posterior vitreous detachment (247081001)
 
HPO: HP:0001489
Monarch Initiative: MONDO:0007017

Definition

Separation of the vitreous humor from the retina. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPosterior vitreous detachment

Conditions with this feature

Exudative vitreoretinopathy 1
MedGen UID:
343561
Concept ID:
C1851402
Disease or Syndrome
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.
Exudative vitreoretinopathy 4
MedGen UID:
356171
Concept ID:
C1866176
Disease or Syndrome
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).
Exudative vitreoretinopathy 6
MedGen UID:
902559
Concept ID:
C4225316
Disease or Syndrome
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. \n\nSome 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.\n\nThe 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.

Professional guidelines

PubMed

Shaikh N, Srishti R, Khanum A, Thirumalesh MB, Dave V, Arora A, Bansal R, Surve A, Azad S, Kumar V
Indian J Ophthalmol 2023 Jan;71(1):28-38. doi: 10.4103/ijo.IJO_928_22. PMID: 36588205Free PMC Article
Broadhead GK, Hong T, Chang AA
Asia Pac J Ophthalmol (Phila) 2020 Mar-Apr;9(2):96-103. doi: 10.1097/APO.0000000000000276. PMID: 32097127
Milston R, Madigan MC, Sebag J
Surv Ophthalmol 2016 Mar-Apr;61(2):211-27. Epub 2015 Dec 8 doi: 10.1016/j.survophthal.2015.11.008. PMID: 26679984

Recent clinical studies

Etiology

Seider MI, Conell C, Melles RB
Ophthalmology 2022 Jan;129(1):67-72. Epub 2021 Jul 27 doi: 10.1016/j.ophtha.2021.07.020. PMID: 34324945
Cohen SY, Mrejen S, Nghiem-Buffet S, Dubois L, Fajnkuchen F, Gaudric A
Ophthalmol Retina 2021 Jun;5(6):553-561. Epub 2020 Sep 30 doi: 10.1016/j.oret.2020.09.018. PMID: 33007522
Milston R, Madigan MC, Sebag J
Surv Ophthalmol 2016 Mar-Apr;61(2):211-27. Epub 2015 Dec 8 doi: 10.1016/j.survophthal.2015.11.008. PMID: 26679984
Sharma P, Sridhar J, Mehta S
Prim Care 2015 Sep;42(3):425-35. doi: 10.1016/j.pop.2015.05.011. PMID: 26319347
Shao L, Wei W
Chin Med J (Engl) 2014;127(8):1566-71. PMID: 24762607

Diagnosis

Shaikh N, Srishti R, Khanum A, Thirumalesh MB, Dave V, Arora A, Bansal R, Surve A, Azad S, Kumar V
Indian J Ophthalmol 2023 Jan;71(1):28-38. doi: 10.4103/ijo.IJO_928_22. PMID: 36588205Free PMC Article
Azad R, Sinha S, Nishant P
Indian J Ophthalmol 2021 Nov;69(11):3026-3034. doi: 10.4103/ijo.IJO_1525_21. PMID: 34708738Free PMC Article
Cohen SY, Mrejen S, Nghiem-Buffet S, Dubois L, Fajnkuchen F, Gaudric A
Ophthalmol Retina 2021 Jun;5(6):553-561. Epub 2020 Sep 30 doi: 10.1016/j.oret.2020.09.018. PMID: 33007522
Milston R, Madigan MC, Sebag J
Surv Ophthalmol 2016 Mar-Apr;61(2):211-27. Epub 2015 Dec 8 doi: 10.1016/j.survophthal.2015.11.008. PMID: 26679984
Duker JS, Kaiser PK, Binder S, de Smet MD, Gaudric A, Reichel E, Sadda SR, Sebag J, Spaide RF, Stalmans P
Ophthalmology 2013 Dec;120(12):2611-2619. Epub 2013 Sep 17 doi: 10.1016/j.ophtha.2013.07.042. PMID: 24053995

Therapy

Shaikh N, Srishti R, Khanum A, Thirumalesh MB, Dave V, Arora A, Bansal R, Surve A, Azad S, Kumar V
Indian J Ophthalmol 2023 Jan;71(1):28-38. doi: 10.4103/ijo.IJO_928_22. PMID: 36588205Free PMC Article
Wan R, Hong T, Tariq Y, Chang A
Curr Pharm Des 2018;24(41):4874-4881. doi: 10.2174/1381612825666190124102148. PMID: 30674252
Lopez-Lopez F, Rodriguez-Blanco M, Gómez-Ulla F, Marticorena J
Curr Diabetes Rev 2009 Feb;5(1):57-62. doi: 10.2174/157339909787314220. PMID: 19199900
Gandorfer A
Eye (Lond) 2008 Oct;22(10):1273-7. Epub 2008 Feb 22 doi: 10.1038/eye.2008.29. PMID: 18292784
Tanaka M, Qui H
Semin Ophthalmol 2000 Mar;15(1):51-61. doi: 10.3109/08820530009037851. PMID: 10749315

Prognosis

Shaikh N, Srishti R, Khanum A, Thirumalesh MB, Dave V, Arora A, Bansal R, Surve A, Azad S, Kumar V
Indian J Ophthalmol 2023 Jan;71(1):28-38. doi: 10.4103/ijo.IJO_928_22. PMID: 36588205Free PMC Article
Seider MI, Conell C, Melles RB
Ophthalmology 2022 Jan;129(1):67-72. Epub 2021 Jul 27 doi: 10.1016/j.ophtha.2021.07.020. PMID: 34324945
Cohen SY, Mrejen S, Nghiem-Buffet S, Dubois L, Fajnkuchen F, Gaudric A
Ophthalmol Retina 2021 Jun;5(6):553-561. Epub 2020 Sep 30 doi: 10.1016/j.oret.2020.09.018. PMID: 33007522
Duker JS, Kaiser PK, Binder S, de Smet MD, Gaudric A, Reichel E, Sadda SR, Sebag J, Spaide RF, Stalmans P
Ophthalmology 2013 Dec;120(12):2611-2619. Epub 2013 Sep 17 doi: 10.1016/j.ophtha.2013.07.042. PMID: 24053995
Roufail ED, Polkinghorne P
Compr Ophthalmol Update 2006 Jul-Aug;7(4):171-7. PMID: 17007730

Clinical prediction guides

Shaikh N, Srishti R, Khanum A, Thirumalesh MB, Dave V, Arora A, Bansal R, Surve A, Azad S, Kumar V
Indian J Ophthalmol 2023 Jan;71(1):28-38. doi: 10.4103/ijo.IJO_928_22. PMID: 36588205Free PMC Article
Azad R, Sinha S, Nishant P
Indian J Ophthalmol 2021 Nov;69(11):3026-3034. doi: 10.4103/ijo.IJO_1525_21. PMID: 34708738Free PMC Article
Cohen SY, Mrejen S, Nghiem-Buffet S, Dubois L, Fajnkuchen F, Gaudric A
Ophthalmol Retina 2021 Jun;5(6):553-561. Epub 2020 Sep 30 doi: 10.1016/j.oret.2020.09.018. PMID: 33007522
Milston R, Madigan MC, Sebag J
Surv Ophthalmol 2016 Mar-Apr;61(2):211-27. Epub 2015 Dec 8 doi: 10.1016/j.survophthal.2015.11.008. PMID: 26679984
Duker JS, Kaiser PK, Binder S, de Smet MD, Gaudric A, Reichel E, Sadda SR, Sebag J, Spaide RF, Stalmans P
Ophthalmology 2013 Dec;120(12):2611-2619. Epub 2013 Sep 17 doi: 10.1016/j.ophtha.2013.07.042. PMID: 24053995

Recent systematic reviews

Meng L, Zhao X, Zhang W, Wang D, Chen Y
Acta Ophthalmol 2021 Nov;99(7):e1176-e1189. Epub 2021 Jan 9 doi: 10.1111/aos.14730. PMID: 33421324
Gishti O, van den Nieuwenhof R, Verhoekx J, van Overdam K
Acta Ophthalmol 2019 Jun;97(4):347-352. Epub 2019 Jan 11 doi: 10.1111/aos.14012. PMID: 30632695
Neffendorf JE, Kirthi V, Pringle E, Jackson TL
Cochrane Database Syst Rev 2017 Oct 17;10(10):CD011874. doi: 10.1002/14651858.CD011874.pub2. PMID: 29040800Free PMC Article
Blindbaek S, Grauslund J
Acta Ophthalmol 2015 Feb;93(1):3-8. Epub 2014 May 22 doi: 10.1111/aos.12447. PMID: 24853827
Jackson TL, Nicod E, Angelis A, Grimaccia F, Prevost AT, Simpson AR, Kanavos P
Retina 2013 Jun;33(6):1099-108. doi: 10.1097/IAE.0b013e31828991d6. PMID: 23591535

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