U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Vitreoretinopathy

MedGen UID:
87480
Concept ID:
C0344290
Disease or Syndrome
Synonym: Vitreoretinal degeneration
SNOMED CT: Vitreoretinal degeneration (247182006)
 
HPO: HP:0007773
Monarch Initiative: MONDO:0020248

Definition

Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. [from HPO]

Conditions with this feature

Proliferative vitreoretinopathy
MedGen UID:
66167
Concept ID:
C0242852
Disease or Syndrome
Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes.
Marshall syndrome
MedGen UID:
82694
Concept ID:
C0265235
Disease or Syndrome
Marshall syndrome (MRSHS) is characterized by midfacial hypoplasia, cleft palate, ocular anomalies including high myopia and cataracts, sensorineural hearing loss, short stature with spondyloepiphyseal dysplasia, and arthropathy. In contrast to Stickler syndrome type II, it has less severe eye findings but striking ocular hypertelorism, more pronounced maxillary hypoplasia, and ectodermal abnormalities (summary by Shanske et al., 1997 and Ala-Kokko and Shanske, 2009).
Osteoporosis with pseudoglioma
MedGen UID:
98480
Concept ID:
C0432252
Disease or Syndrome
Osteoporosis-pseudoglioma syndrome is a rare condition characterized by severe thinning of the bones (osteoporosis) and eye abnormalities that lead to vision loss. In people with this condition, osteoporosis is usually recognized in early childhood. It is caused by a shortage of minerals, such as calcium, in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. Affected individuals often have multiple bone fractures, including in the bones that form the spine (vertebrae). Multiple fractures can cause collapse of the affected vertebrae (compressed vertebrae), abnormal side-to-side curvature of the spine (scoliosis), short stature, and limb deformities. Decreased bone mineral density can also cause softening or thinning of the skull (craniotabes).\n\nMost affected individuals have impaired vision at birth or by early infancy and are blind by young adulthood. Vision problems are usually caused by one of several eye conditions, grouped together as pseudoglioma, that affect the light-sensitive tissue at the back of the eye (the retina), although other eye conditions have been identified in affected individuals. Pseudogliomas are so named because, on examination, the conditions resemble an eye tumor known as a retinal glioma.\n\nRarely, people with osteoporosis-pseudoglioma syndrome have additional signs or symptoms such as mild intellectual disability, weak muscle tone (hypotonia), abnormally flexible joints, or seizures.
Wagner syndrome
MedGen UID:
326741
Concept ID:
C1840452
Disease or Syndrome
VCAN-related vitreoretinopathy, which includes Wagner syndrome and erosive vitreoretinopathy (ERVR), is characterized by "optically empty vitreous" on slit-lamp examination and avascular vitreous strands and veils, mild or occasionally moderate to severe myopia, presenile cataract, night blindness of variable degree associated with progressive chorioretinal atrophy, retinal traction and retinal detachment in the advanced stages of disease, and reduced visual acuity. Optic nerve inversion as well as uveitis has also been described. Systemic abnormalities are not observed. The first signs usually become apparent during early adolescence, but onset can be as early as age two years.
Enhanced S-cone syndrome
MedGen UID:
341446
Concept ID:
C1849394
Disease or Syndrome
An autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. Characteristics include visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration.
Pigmented paravenous retinochoroidal atrophy
MedGen UID:
401413
Concept ID:
C1868310
Disease or Syndrome
Pigmented paravenous chorioretinal atrophy is a stationary disease of the ocular fundus in which bone corpuscle pigmentation is seen in a paravenous distribution. Patients are usually asymptomatic; diagnosis is based on the characteristic fundus appearance. Most cases have been reported in males (summary by Traboulsi and Maumenee, 1986).
Stickler syndrome type 1
MedGen UID:
810955
Concept ID:
C2020284
Disease or Syndrome
Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity.
Spondyloepiphyseal dysplasia congenita
MedGen UID:
412530
Concept ID:
C2745959
Congenital Abnormality
Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).
Stickler syndrome, type 5
MedGen UID:
481972
Concept ID:
C3280342
Disease or Syndrome
Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity.
Knobloch syndrome 1
MedGen UID:
1642123
Concept ID:
C4551775
Disease or Syndrome
Knobloch syndrome-1 (KNO1) is an autosomal recessive developmental disorder primarily characterized by typical eye abnormalities, including high myopia, cataracts, dislocated lens, vitreoretinal degeneration, and retinal detachment, with occipital skull defects, which can range from occipital encephalocele to occult cutis aplasia (summary by Aldahmesh et al., 2011). Genetic Heterogeneity of Knobloch Syndrome KNO2 (618458) is caused by mutation in the PAK2 gene (605022) on chromosome 3q29.
Knobloch syndrome 2
MedGen UID:
1812153
Concept ID:
C5676897
Disease or Syndrome

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
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
Liu Y, Wu N
Int J Nanomedicine 2021;16:1391-1403. Epub 2021 Feb 24 doi: 10.2147/IJN.S294807. PMID: 33658779Free PMC Article

Recent clinical studies

Etiology

Wu F, Eliott D
Semin Ophthalmol 2021 May 19;36(4):218-223. Epub 2021 Feb 22 doi: 10.1080/08820538.2021.1890791. PMID: 33616467
Chronopoulos A, Hattenbach LO, Schutz JS
Surv Ophthalmol 2021 Jul-Aug;66(4):585-593. Epub 2020 Dec 24 doi: 10.1016/j.survophthal.2020.12.007. PMID: 33359545
Idrees S, Sridhar J, Kuriyan AE
Int Ophthalmol Clin 2019 Winter;59(1):221-240. doi: 10.1097/IIO.0000000000000258. PMID: 30585928Free PMC Article
Kwon OW, Song JH, Roh MI
Dev Ophthalmol 2016;55:154-62. Epub 2015 Oct 26 doi: 10.1159/000438972. PMID: 26501375
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

Ullah A, Toth CA, Burnett HW, Butler JW, Levy JH, Benner JD
Ophthalmic Surg Lasers Imaging Retina 2023 Mar;54(3):139-146. Epub 2023 Mar 1 doi: 10.3928/23258160-20230220-01. PMID: 36944071
Özdek Ş, Özdemir Zeydanlı E, Baumal C, Hoyek S, Patel N, Berrocal A, Lopez-Cañizares A, Al-Khersan H, Kusaka S, Mano F, Jalali S, Lepore D, Akar S
Turk J Ophthalmol 2023 Feb 24;53(1):44-57. doi: 10.4274/tjo.galenos.2022.76436. PMID: 36847634Free PMC Article
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
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
Claes C, Lafetá AP
Dev Ophthalmol 2014;54:188-95. Epub 2014 Aug 26 doi: 10.1159/000360466. PMID: 25196769

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
Chandrasekaran PR, Madanagopalan VG
Graefes Arch Clin Exp Ophthalmol 2022 May;260(5):1457-1473. Epub 2022 Jan 11 doi: 10.1007/s00417-021-05542-0. PMID: 35015114Free PMC Article
Chronopoulos A, Hattenbach LO, Schutz JS
Surv Ophthalmol 2021 Jul-Aug;66(4):585-593. Epub 2020 Dec 24 doi: 10.1016/j.survophthal.2020.12.007. PMID: 33359545
Idrees S, Sridhar J, Kuriyan AE
Int Ophthalmol Clin 2019 Winter;59(1):221-240. doi: 10.1097/IIO.0000000000000258. PMID: 30585928Free PMC Article
Gandorfer A
Eye (Lond) 2008 Oct;22(10):1273-7. Epub 2008 Feb 22 doi: 10.1038/eye.2008.29. PMID: 18292784

Prognosis

Park Y, Cho KJ
BMC Ophthalmol 2022 Feb 15;22(1):78. doi: 10.1186/s12886-022-02297-y. PMID: 35168587Free 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
Jin Y, Chen H, Xu X, Hu Y, Wang C, Ma Z
Retina 2017 Jul;37(7):1236-1245. doi: 10.1097/IAE.0000000000001350. PMID: 27779559
Fraser S, Steel D
BMJ Clin Evid 2010 Nov 24;2010 PMID: 21406128Free PMC Article
Fong DS, Aiello LP, Ferris FL 3rd, Klein R
Diabetes Care 2004 Oct;27(10):2540-53. doi: 10.2337/diacare.27.10.2540. PMID: 15451934

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
Huang CY, Mikowski M, Wu L
Graefes Arch Clin Exp Ophthalmol 2022 Mar;260(3):711-722. Epub 2021 Oct 12 doi: 10.1007/s00417-021-05448-x. PMID: 34636994
Jin Y, Chen H, Xu X, Hu Y, Wang C, Ma Z
Retina 2017 Jul;37(7):1236-1245. doi: 10.1097/IAE.0000000000001350. PMID: 27779559
Fraser S, Steel D
BMJ Clin Evid 2010 Nov 24;2010 PMID: 21406128Free PMC Article
Steel D, Fraser S
BMJ Clin Evid 2008 Feb 15;2008 PMID: 19450333Free PMC Article

Recent systematic reviews

Abikoye TM, Idowu OO, Oluleye TS
Int J Clin Pract 2021 Dec;75(12):e14911. Epub 2021 Sep 26 doi: 10.1111/ijcp.14911. PMID: 34551184
Russo A, Morescalchi F, Donati S, Gambicorti E, Azzolini C, Costagliola C, Semeraro F
Int Ophthalmol 2018 Apr;38(2):855-867. Epub 2017 Mar 13 doi: 10.1007/s10792-017-0489-3. PMID: 28289950
Steel D
BMJ Clin Evid 2014 Mar 3;2014 PMID: 24807890Free PMC Article
Fraser S, Steel D
BMJ Clin Evid 2010 Nov 24;2010 PMID: 21406128Free PMC Article
Steel D, Fraser S
BMJ Clin Evid 2008 Feb 15;2008 PMID: 19450333Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...