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Retinal hole

MedGen UID:
1642357
Concept ID:
C4551442
Disease or Syndrome
Synonyms: Atrophic retinal holes; Retinal holes
SNOMED CT: Retinal hole (302888003); Retinal atrophic hole (302888003); Hole in retina (302888003)
 
HPO: HP:0011530

Definition

A small break in the retina. [from HPO]

Term Hierarchy

Conditions with this feature

Exudative vitreoretinopathy 2, X-linked
MedGen UID:
337030
Concept ID:
C1844579
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 FEVR, see EVR1 (133780).
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 3
MedGen UID:
344184
Concept ID:
C1854002
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).
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.
Myopia 17, autosomal dominant
MedGen UID:
854818
Concept ID:
C3888211
Disease or Syndrome
Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004). For a discussion of genetic heterogeneity of susceptibility to myopia, see 160700.
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\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.\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.
Exudative vitreoretinopathy 7
MedGen UID:
1626650
Concept ID:
C4539767
Disease or Syndrome

Professional guidelines

PubMed

Ortisi E, Avitabile T, Bonfiglio V
Retina 2012 Oct;32(9):1704-18. doi: 10.1097/IAE.0b013e31826b671c. PMID: 23007668
Mitry D, Zambarakji H
Graefes Arch Clin Exp Ophthalmol 2012 Jan;250(1):3-13. Epub 2011 Dec 13 doi: 10.1007/s00417-011-1889-0. PMID: 22159713
Lai YK
Br J Ophthalmol 1990 Apr;74(4):201-2. doi: 10.1136/bjo.74.4.201. PMID: 2337542Free PMC Article

Recent clinical studies

Etiology

Lama H, Pâques M, Brasnu E, Vu J, Chaumette C, Dupas B, Fardeau C, Chehaibou I, Rouland JF, Besombes G, Labetoulle M, Labbé A, Rousseau A
BMC Ophthalmol 2023 Jul 14;23(1):318. doi: 10.1186/s12886-023-03068-z. PMID: 37452284Free PMC Article
Bai JX, Zheng WY, Zhu XQ, Peng XY
BMC Ophthalmol 2022 Nov 16;22(1):439. doi: 10.1186/s12886-022-02665-8. PMID: 36384489Free PMC Article
Garcia JH, Johnson M, Shah G, Meyer CH, Melo GB, Rodrigues EB
Graefes Arch Clin Exp Ophthalmol 2021 Jul;259(7):1685-1694. Epub 2020 Nov 2 doi: 10.1007/s00417-020-04995-z. PMID: 33136191
Yaşar E, Erol N, Bilgeç MD, Çakmak Aİ
Turk J Ophthalmol 2019 Sep 3;49(4):209-212. doi: 10.4274/tjo.galenos.2019.06706. PMID: 31486608Free PMC Article
Shields CL, Shields JA
Curr Opin Ophthalmol 1999 Jun;10(3):197-203. doi: 10.1097/00055735-199906000-00008. PMID: 10537779

Diagnosis

Lama H, Pâques M, Brasnu E, Vu J, Chaumette C, Dupas B, Fardeau C, Chehaibou I, Rouland JF, Besombes G, Labetoulle M, Labbé A, Rousseau A
BMC Ophthalmol 2023 Jul 14;23(1):318. doi: 10.1186/s12886-023-03068-z. PMID: 37452284Free PMC Article
Gasparian SA, Almeida DRP, Chin EK
JAMA Ophthalmol 2022 Oct 1;140(10):e223586. Epub 2022 Oct 20 doi: 10.1001/jamaophthalmol.2022.3586. PMID: 36264291
Stanga PE, Pastor-Idoate S, Reinstein U, Vatas P, Patel U, Dubovy S, Reinstein DZ, Zahavi O
Eur J Ophthalmol 2022 May;32(3):1642-1651. Epub 2021 Jul 3 doi: 10.1177/11206721211026100. PMID: 34218694
Garcia JH, Johnson M, Shah G, Meyer CH, Melo GB, Rodrigues EB
Graefes Arch Clin Exp Ophthalmol 2021 Jul;259(7):1685-1694. Epub 2020 Nov 2 doi: 10.1007/s00417-020-04995-z. PMID: 33136191
Yaşar E, Erol N, Bilgeç MD, Çakmak Aİ
Turk J Ophthalmol 2019 Sep 3;49(4):209-212. doi: 10.4274/tjo.galenos.2019.06706. PMID: 31486608Free PMC Article

Therapy

Bai JX, Zheng WY, Zhu XQ, Peng XY
BMC Ophthalmol 2022 Nov 16;22(1):439. doi: 10.1186/s12886-022-02665-8. PMID: 36384489Free PMC Article
Venkatesh R, Pereira A, Yadav NK
Retin Cases Brief Rep 2022 Sep 1;16(5):537-539. doi: 10.1097/ICB.0000000000001027. PMID: 32541438
Chan YK, Laybourne JP, Ng CO, Saha C, Yap HPY, Chandra A, Steel DH, Sandinha MT, Wong D
Acta Ophthalmol 2021 Dec;99(8):e1517-e1523. Epub 2021 Mar 5 doi: 10.1111/aos.14832. PMID: 33666371
Abdellah MM, Mostafa EM, Anber MA, El Saman IS, Eldawla ME
BMC Ophthalmol 2019 Sep 18;19(1):201. doi: 10.1186/s12886-019-1199-6. PMID: 31533669Free PMC Article
Lam BL, Davis JL, Gregori NZ, MacLaren RE, Girach A, Verriotto JD, Rodriguez B, Rosa PR, Zhang X, Feuer WJ
Am J Ophthalmol 2019 Jan;197:65-73. Epub 2018 Sep 19 doi: 10.1016/j.ajo.2018.09.012. PMID: 30240725

Prognosis

Bai JX, Zheng WY, Zhu XQ, Peng XY
BMC Ophthalmol 2022 Nov 16;22(1):439. doi: 10.1186/s12886-022-02665-8. PMID: 36384489Free PMC Article
Garcia JH, Johnson M, Shah G, Meyer CH, Melo GB, Rodrigues EB
Graefes Arch Clin Exp Ophthalmol 2021 Jul;259(7):1685-1694. Epub 2020 Nov 2 doi: 10.1007/s00417-020-04995-z. PMID: 33136191
Abdellah MM, Mostafa EM, Anber MA, El Saman IS, Eldawla ME
BMC Ophthalmol 2019 Sep 18;19(1):201. doi: 10.1186/s12886-019-1199-6. PMID: 31533669Free PMC Article
Rishi E, Rishi P, Bhende M, Koundanya VV, Sidramayya R, Maitray A, Rao C, Susvar P, Bhende P, Sharma T
Ophthalmol Retina 2018 Jan;2(1):10-16. Epub 2017 May 24 doi: 10.1016/j.oret.2017.03.012. PMID: 31047295
Shields CL, Shields JA
Curr Opin Ophthalmol 1999 Jun;10(3):197-203. doi: 10.1097/00055735-199906000-00008. PMID: 10537779

Clinical prediction guides

Li D, Zhou N, Gao R, Duan J, Shang Q
Ann Med 2023;55(2):2258790. Epub 2023 Sep 19 doi: 10.1080/07853890.2023.2258790. PMID: 37725940Free PMC Article
Lama H, Pâques M, Brasnu E, Vu J, Chaumette C, Dupas B, Fardeau C, Chehaibou I, Rouland JF, Besombes G, Labetoulle M, Labbé A, Rousseau A
BMC Ophthalmol 2023 Jul 14;23(1):318. doi: 10.1186/s12886-023-03068-z. PMID: 37452284Free PMC Article
Stanga PE, Pastor-Idoate S, Reinstein U, Vatas P, Patel U, Dubovy S, Reinstein DZ, Zahavi O
Eur J Ophthalmol 2022 May;32(3):1642-1651. Epub 2021 Jul 3 doi: 10.1177/11206721211026100. PMID: 34218694
Park JH, Kwon S, Yang H, Jeon S
Ophthalmic Surg Lasers Imaging Retina 2021 May;52(5):273-280. Epub 2021 May 1 doi: 10.3928/23258160-20210429-05. PMID: 34044716
Yaşar E, Erol N, Bilgeç MD, Çakmak Aİ
Turk J Ophthalmol 2019 Sep 3;49(4):209-212. doi: 10.4274/tjo.galenos.2019.06706. PMID: 31486608Free PMC Article

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