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Syndromic vitreoretinopathy

MedGen UID:
991428
•Concept ID:
CN312501
•
Disease or Syndrome
Synonym: syndromic vitreoretinopathy
 
Monarch Initiative: MONDO:0034954
Orphanet: ORPHA519327

Professional guidelines

PubMed

Vitreous hemorrhage - Causes, diagnosis, and management.
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
A review of neovascular glaucoma. Etiopathogenesis and treatment.
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
Retinectomy for treatment of intractable glaucoma: long term results.
Joussen AM, Walter P, Jonescu-Cuypers CP, Koizumi K, Poulaki V, Bartz-Schmidt KU, Krieglstein GK, Kirchhof B
Br J Ophthalmol 2003 Sep;87(9):1094-102. doi: 10.1136/bjo.87.9.1094. PMID: 12928275Free PMC Article

Recent clinical studies

Etiology

A review of neovascular glaucoma. Etiopathogenesis and treatment.
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
Whole-Exome Sequencing of Patients With Posterior Segment Uveitis.
Li AS, Velez G, Darbro B, Toral MA, Yang J, Tsang SH, Ferguson PJ, Folk JC, Bassuk AG, Mahajan VB
Am J Ophthalmol 2021 Jan;221:246-259. Epub 2020 Jul 21 doi: 10.1016/j.ajo.2020.07.021. PMID: 32707200Free PMC Article
FEVR phenotype associated with septo-optic dysplasia.
Zhang DL, Blair MP, Zeid JL, Basith SST, Shapiro MJ
Ophthalmic Genet 2019 Oct;40(5):449-452. doi: 10.1080/13816810.2019.1660380. PMID: 31755341
Retinal Vascular Abnormalities in Phakomatosis Pigmentovascularis.
Thanos A, Shwayder T, Papakostas TD, Corradetti G, Capone A Jr, Sarraf D, Shields CL, Trese MT
Ophthalmol Retina 2019 Dec;3(12):1098-1104. Epub 2019 Jul 16 doi: 10.1016/j.oret.2019.07.004. PMID: 31420298
The molecular basis of human retinal and vitreoretinal diseases.
Berger W, Kloeckener-Gruissem B, Neidhardt J
Prog Retin Eye Res 2010 Sep;29(5):335-75. Epub 2010 Mar 31 doi: 10.1016/j.preteyeres.2010.03.004. PMID: 20362068

Diagnosis

Vitreous hemorrhage - Causes, diagnosis, and management.
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
Coats plus in prematurity.
López-Cañizares A, Fernandez MP, Al-Khersan H, Carletti P, Arroyo MS, Fernandez-Ruiz MC, Berrocal AM
Ophthalmic Genet 2022 Aug;43(4):543-549. Epub 2022 Apr 13 doi: 10.1080/13816810.2022.2051193. PMID: 35416114
A review of neovascular glaucoma. Etiopathogenesis and treatment.
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
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.
De Silva SR, Arno G, Robson AG, Fakin A, Pontikos N, Mohamed MD, Bird AC, Moore AT, Michaelides M, Webster AR, Mahroo OA
Prog Retin Eye Res 2021 May;82:100898. Epub 2020 Aug 26 doi: 10.1016/j.preteyeres.2020.100898. PMID: 32860923
Ophthalmic genetics/inherited eye disease.
Young TL
Curr Opin Ophthalmol 2003 Oct;14(5):296-303. doi: 10.1097/00055735-200310000-00011. PMID: 14502058

Therapy

Vitreous hemorrhage - Causes, diagnosis, and management.
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
A review of neovascular glaucoma. Etiopathogenesis and treatment.
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
Ophthalmic genetics/inherited eye disease.
Young TL
Curr Opin Ophthalmol 2003 Oct;14(5):296-303. doi: 10.1097/00055735-200310000-00011. PMID: 14502058
Pediatric rhegmatogenous retinal detachment.
Fivgas GD, Capone A Jr
Retina 2001;21(2):101-6. doi: 10.1097/00006982-200104000-00001. PMID: 11321134
Norrie disease and MAO genes: nearest neighbors.
Chen ZY, Denney RM, Breakefield XO
Hum Mol Genet 1995;4 Spec No:1729-37. doi: 10.1093/hmg/4.suppl_1.1729. PMID: 8541872

Prognosis

Vitreous hemorrhage - Causes, diagnosis, and management.
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
A review of neovascular glaucoma. Etiopathogenesis and treatment.
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
Whole-Exome Sequencing of Patients With Posterior Segment Uveitis.
Li AS, Velez G, Darbro B, Toral MA, Yang J, Tsang SH, Ferguson PJ, Folk JC, Bassuk AG, Mahajan VB
Am J Ophthalmol 2021 Jan;221:246-259. Epub 2020 Jul 21 doi: 10.1016/j.ajo.2020.07.021. PMID: 32707200Free PMC Article
FEVR phenotype associated with septo-optic dysplasia.
Zhang DL, Blair MP, Zeid JL, Basith SST, Shapiro MJ
Ophthalmic Genet 2019 Oct;40(5):449-452. doi: 10.1080/13816810.2019.1660380. PMID: 31755341
Clinical features of the congenital vitreoretinopathies.
Edwards AO
Eye (Lond) 2008 Oct;22(10):1233-42. Epub 2008 Feb 29 doi: 10.1038/eye.2008.38. PMID: 18309337

Clinical prediction guides

Vitreous hemorrhage - Causes, diagnosis, and management.
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
Whole-Exome Sequencing of Patients With Posterior Segment Uveitis.
Li AS, Velez G, Darbro B, Toral MA, Yang J, Tsang SH, Ferguson PJ, Folk JC, Bassuk AG, Mahajan VB
Am J Ophthalmol 2021 Jan;221:246-259. Epub 2020 Jul 21 doi: 10.1016/j.ajo.2020.07.021. PMID: 32707200Free PMC Article
Retinal Vascular Abnormalities in Phakomatosis Pigmentovascularis.
Thanos A, Shwayder T, Papakostas TD, Corradetti G, Capone A Jr, Sarraf D, Shields CL, Trese MT
Ophthalmol Retina 2019 Dec;3(12):1098-1104. Epub 2019 Jul 16 doi: 10.1016/j.oret.2019.07.004. PMID: 31420298
WAGNER syndrome: anatomic, functional and genetic characterization of a Portuguese family.
Araújo JR, Tavares-Ferreira J, Estrela-Silva S, Rocha P, Brandão E, Faria PA, Falcão-Reis F, Rocha-Sousa A
Graefes Arch Clin Exp Ophthalmol 2018 Jan;256(1):163-171. Epub 2017 Oct 25 doi: 10.1007/s00417-017-3800-0. PMID: 29071374
Structure, development and function of cytoskeletal elements in non-neuronal cells of the human eye.
Kivelä T, Uusitalo M
Prog Retin Eye Res 1998 Jul;17(3):385-428. doi: 10.1016/s1350-9462(98)00001-9. PMID: 9695798

Recent systematic reviews

RETINAL DETACHMENT AFTER ACUTE RETINAL NECROSIS AND THE EFFICACIES OF DIFFERENT INTERVENTIONS: A Systematic Review and Metaanalysis.
Zhao XY, Meng LH, Zhang WF, Wang DY, Chen YX
Retina 2021 May 1;41(5):965-978. doi: 10.1097/IAE.0000000000002971. PMID: 32932382

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