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Vitreous hemorrhage

MedGen UID:
12119
Concept ID:
C0042909
Pathologic Function
Synonyms: Hemorrhage, Vitreous; Vitreous Hemorrhage; Vitreous Hemorrhages
SNOMED CT: Intragel vitreous hemorrhage (31341008); VH - Vitreous hemorrhage (31341008); Vitreous hemorrhage (31341008)
 
HPO: HP:0007902

Definition

Bleeding within the vitreous compartment of the eye. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVVitreous hemorrhage

Conditions with this feature

Retinoblastoma
MedGen UID:
20552
Concept ID:
C0035335
Neoplastic Process
Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors.
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.
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).
Thrombophilia due to protein C deficiency, autosomal recessive
MedGen UID:
394120
Concept ID:
C2676759
Disease or Syndrome
Autosomal recessive protein C deficiency resulting from homozygous or compound heterozygous PROC mutations is a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia (Millar et al., 2000).
Juvenile retinoschisis
MedGen UID:
811458
Concept ID:
C3714753
Disease or Syndrome
X-linked congenital retinoschisis (XLRS) is characterized by symmetric bilateral macular involvement with onset in the first decade of life, in some cases as early as age three months. Fundus examination shows areas of schisis (splitting of the nerve fiber layer of the retina) in the macula, sometimes giving the impression of a spoke wheel pattern. Schisis of the peripheral retina, predominantly inferotemporally, occurs in approximately 50% of individuals. Affected males typically have 20/60 to 20/120 vision. Visual acuity often deteriorates during the first and second decades of life but then remains relatively stable until the fifth or sixth decade.
Autosomal dominant vitreoretinochoroidopathy
MedGen UID:
854768
Concept ID:
C3888099
Disease or Syndrome
Bestrophinopathies, the spectrum of ophthalmic disorders caused by pathogenic variants in BEST1, are typically characterized by retinal degeneration. The four recognized phenotypes are the three autosomal dominant disorders: Best vitelliform macular dystrophy (BVMD), BEST1 adult-onset vitelliform macular dystrophy (AVMD), and autosomal dominant vitreoretinochoroidopathy (ADVIRC); and autosomal recessive bestrophinopathy (ARB). Onset is usually in the first decade (except AVMD in which onset is age 30 to 50 years). Slow visual deterioration is the usual course. Choroidal neovascularization can occur in rare cases. ADVIRC is also associated with panophthalmic involvement including nanophthalmos, microcornea, hyperopia, and narrow anterior chamber angle with angle closure glaucoma.
Atelis syndrome 2
MedGen UID:
1824055
Concept ID:
C5774282
Disease or Syndrome
Atelis syndrome-2 (ATELS2) is an autosomal recessive disorder characterized by poor overall growth with microcephaly and short stature, dysmorphic facial features, and congenital cardiac defects. Additional more variable features may include hematologic abnormalities, variable ocular abnormalities, motor delay, and anxiety. Patient cells exhibit a unique chromosomal instability phenotype consisting of segmented and dicentric chromosomes with mosaic variegated hyperploidy (Grange et al., 2022). See also ATELS1 (620184), caused by mutation in the SLF2 gene (610348). For a discussion of genetic heterogeneity of MVA, see MVA1 (257300).
Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
MedGen UID:
1841145
Concept ID:
C5830509
Disease or Syndrome
Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity (NEDIHSS) is an autosomal recessive disorder characterized by prenatal or neonatal onset of intracranial hemorrhage, usually with ventriculomegaly and calcifications, resulting in parenchymal brain damage. Some affected individuals have symptoms incompatible with life and die in utero. Those that survive show profound global developmental delay with almost no motor or cognitive skills, hypotonia, spasticity, and seizures. Other features may include facial dysmorphism, retinal vascular abnormalities, and poor overall growth. The pathogenesis of the disease likely results from dysfunction of vascular endothelial cells in the brain (Lecca et al., 2023).

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
Razeghinejad R, Lin MM, Lee D, Katz LJ, Myers JS
Surv Ophthalmol 2020 Sep-Oct;65(5):530-547. Epub 2020 Feb 11 doi: 10.1016/j.survophthal.2020.02.003. PMID: 32057763
Kollias AN, Ulbig MW
Dtsch Arztebl Int 2010 Feb;107(5):75-83; quiz 84. Epub 2010 Feb 5 doi: 10.3238/arztebl.2010.0075. PMID: 20186318Free PMC Article

Recent clinical studies

Etiology

Antoszyk AN, Glassman AR, Beaulieu WT, Jampol LM, Jhaveri CD, Punjabi OS, Salehi-Had H, Wells JA 3rd, Maguire MG, Stockdale CR, Martin DF, Sun JK; DRCR Retina Network
JAMA 2020 Dec 15;324(23):2383-2395. doi: 10.1001/jama.2020.23027. PMID: 33320223Free PMC Article
Verma S, Azad SV, Takkar B, Temkar S, Chawla R, Venkatesh P
Indian J Ophthalmol 2020 Jun;68(6):988-993. doi: 10.4103/ijo.IJO_1040_19. PMID: 32461411Free PMC Article
Naik AU, Rishi E, Rishi P
Indian J Ophthalmol 2019 Jun;67(6):732-739. doi: 10.4103/ijo.IJO_688_18. PMID: 31124481Free PMC Article
Savoie BT, Ferrone PJ
Retin Cases Brief Rep 2017 Winter;11 Suppl 1:S202-S210. doi: 10.1097/ICB.0000000000000444. PMID: 27680778
Sharma P, Sridhar J, Mehta S
Prim Care 2015 Sep;42(3):425-35. doi: 10.1016/j.pop.2015.05.011. PMID: 26319347

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
Naik AU, Rishi E, Rishi P
Indian J Ophthalmol 2019 Jun;67(6):732-739. doi: 10.4103/ijo.IJO_688_18. PMID: 31124481Free PMC Article
Sharma P, Sridhar J, Mehta S
Prim Care 2015 Sep;42(3):425-35. doi: 10.1016/j.pop.2015.05.011. PMID: 26319347
Bagheri N, Mehta S
Prim Care 2015 Sep;42(3):347-61. doi: 10.1016/j.pop.2015.05.010. PMID: 26319342
Spraul CW, Grossniklaus HE
Surv Ophthalmol 1997 Jul-Aug;42(1):3-39. doi: 10.1016/s0039-6257(97)84041-6. PMID: 9265701

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
Okonkwo ON, Hassan AO, Akanbi T, Oderinlo O, Gyasi ME, Oyekunle I
West Afr J Med 2022 Sep 16;39(9):958-963. PMID: 36128750
Antoszyk AN, Glassman AR, Beaulieu WT, Jampol LM, Jhaveri CD, Punjabi OS, Salehi-Had H, Wells JA 3rd, Maguire MG, Stockdale CR, Martin DF, Sun JK; DRCR Retina Network
JAMA 2020 Dec 15;324(23):2383-2395. doi: 10.1001/jama.2020.23027. PMID: 33320223Free PMC Article
Rehak M, Wiedemann P
J Thromb Haemost 2010 Sep;8(9):1886-94. doi: 10.1111/j.1538-7836.2010.03909.x. PMID: 20492457
Goff MJ, McDonald HR, Johnson RN, Ai E, Jumper JM, Fu AD
Compr Ophthalmol Update 2006 May-Jun;7(3):97-111. PMID: 16882398

Prognosis

Ersöz MG, Hocaoğlu M, Sayman Muslubaş IB, Arf S, Karaçorlu M
Turk J Ophthalmol 2021 Apr 29;51(2):102-106. doi: 10.4274/tjo.galenos.2020.43709. PMID: 33951898Free PMC Article
Zhao XY, Luo MY, Meng LH, Zhang WF, Li B, Wang EQ, Liu SZ, Yu WH, Chen YX
Retina 2021 Aug 1;41(8):1675-1685. doi: 10.1097/IAE.0000000000003098. PMID: 33395221
Reynolds JD
Am Orthopt J 2014;64:43-53. doi: 10.3368/aoj.64.1.43. PMID: 25313111
Hassan A, Lanzino G, Wijdicks EF, Rabinstein AA, Flemming KD
Neurocrit Care 2011 Dec;15(3):554-8. doi: 10.1007/s12028-011-9555-2. PMID: 21604080
Kellner U, Brümmer S, Foerster MH, Wessing A
Graefes Arch Clin Exp Ophthalmol 1990;228(5):432-7. doi: 10.1007/BF00927256. PMID: 2227486

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
Antoszyk AN, Glassman AR, Beaulieu WT, Jampol LM, Jhaveri CD, Punjabi OS, Salehi-Had H, Wells JA 3rd, Maguire MG, Stockdale CR, Martin DF, Sun JK; DRCR Retina Network
JAMA 2020 Dec 15;324(23):2383-2395. doi: 10.1001/jama.2020.23027. PMID: 33320223Free PMC Article
Naik AU, Rishi E, Rishi P
Indian J Ophthalmol 2019 Jun;67(6):732-739. doi: 10.4103/ijo.IJO_688_18. PMID: 31124481Free PMC Article
Przeździecka-Dołyk J, Węgrzyn A, Turno-Kręcicka A, Misiuk-Hojło M
Arch Immunol Ther Exp (Warsz) 2016 Apr;64(2):127-37. Epub 2015 Oct 5 doi: 10.1007/s00005-015-0361-y. PMID: 26438050Free PMC Article
Drews RC
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Recent systematic reviews

Rittiphairoj T, Roberti G, Michelessi M
Cochrane Database Syst Rev 2023 Apr 3;4(4):CD007920. doi: 10.1002/14651858.CD007920.pub4. PMID: 37010901Free PMC Article
Do DV, Han G, Abariga SA, Sleilati G, Vedula SS, Hawkins BS
Cochrane Database Syst Rev 2023 Mar 28;3(3):CD006127. doi: 10.1002/14651858.CD006127.pub3. PMID: 36975019Free PMC Article
Martinez-Zapata MJ, Salvador I, Martí-Carvajal AJ, Pijoan JI, Cordero JA, Ponomarev D, Kernohan A, Solà I, Virgili G
Cochrane Database Syst Rev 2023 Mar 20;3(3):CD008721. doi: 10.1002/14651858.CD008721.pub3. PMID: 36939655Free PMC Article
Perais J, Agarwal R, Evans JR, Loveman E, Colquitt JL, Owens D, Hogg RE, Lawrenson JG, Takwoingi Y, Lois N
Cochrane Database Syst Rev 2023 Feb 22;2(2):CD013775. doi: 10.1002/14651858.CD013775.pub2. PMID: 36815723Free PMC Article
Terelak-Borys B, Skonieczna K, Grabska-Liberek I
Med Sci Monit 2012 Aug;18(8):RA138-144. doi: 10.12659/msm.883260. PMID: 22847215Free PMC Article

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