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Retinal perforation

MedGen UID:
48435
Concept ID:
C0035321
Disease or Syndrome
Synonyms: Break, Retinal; Breaks, Retinal; Dialyses, Retinal; Hole, Retinal; Holes, Retinal; Perforation, Retinal; Perforations, Retinal; Retinal Break; Retinal Breaks; Retinal Dialyse; Retinal Dialyses; Retinal Hole; Retinal Holes; Retinal Perforation; Retinal Perforations; Retinal Tear; Retinal Tears; Tear, Retinal; Tears, Retinal
SNOMED CT: Retinal tear (95690009); Retinal dialysis (232003005); Break of retina (1275615004)
 
HPO: HP:0011958
Monarch Initiative: MONDO:0001539

Definition

A small hole through the whole thickness of the retina. [from HPO]

Conditions with this feature

Congenital stationary night blindness 1F
MedGen UID:
767313
Concept ID:
C3554399
Disease or Syndrome
Autosomal recessive congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). For example, they may not be able to identify road signs at night or see stars in the night sky. They also often have other vision problems, including loss of sharpness (reduced acuity), nearsightedness (myopia), involuntary movements of the eyes (nystagmus), and eyes that do not look in the same direction (strabismus).\n\nThe vision problems associated with this condition are congenital, which means they are present from birth. They tend to remain stable (stationary) over time.

Professional guidelines

PubMed

Jacobson SG, Boye SL, Aleman TS, Conlon TJ, Zeiss CJ, Roman AJ, Cideciyan AV, Schwartz SB, Komaromy AM, Doobrajh M, Cheung AY, Sumaroka A, Pearce-Kelling SE, Aguirre GD, Kaushal S, Maguire AM, Flotte TR, Hauswirth WW
Hum Gene Ther 2006 Aug;17(8):845-58. doi: 10.1089/hum.2006.17.845. PMID: 16942444

Recent clinical studies

Etiology

da Cruz NFS, Kawamuro M, Hilgert GR, Pipolo GSR, Maia M
Retin Cases Brief Rep 2022 Nov 1;16(6):727-730. doi: 10.1097/ICB.0000000000001034. PMID: 32618899
Lee JJ, Choi SK, Kwon HJ, Lee SM, Park SW, Byon IS, Lee JE
Korean J Ophthalmol 2021 Jun;35(3):207-214. Epub 2021 Jun 4 doi: 10.3341/kjo.2020.0124. PMID: 34120419Free PMC Article
Angi M, Kalirai H, Taktak A, Hussain R, Groenewald C, Damato BE, Heimann H, Coupland SE
Br J Ophthalmol 2017 Aug;101(8):1143-1146. Epub 2017 Jun 8 doi: 10.1136/bjophthalmol-2017-310361. PMID: 28596284
Noel LP
Curr Opin Ophthalmol 1998 Jun;9(3):56-8. doi: 10.1097/00055735-199806000-00010. PMID: 10182101
Noel LP, Bloom JN, Clarke WN, Bawazeer A
J Pediatr Ophthalmol Strabismus 1997 Mar-Apr;34(2):115-7. doi: 10.3928/0191-3913-19970301-12. PMID: 9083958

Diagnosis

Lee JJ, Choi SK, Kwon HJ, Lee SM, Park SW, Byon IS, Lee JE
Korean J Ophthalmol 2021 Jun;35(3):207-214. Epub 2021 Jun 4 doi: 10.3341/kjo.2020.0124. PMID: 34120419Free PMC Article
Uemoto R, Nakasato-Sonn H, Meguro A, Ito N, Yazama F, Mizuki N
Br J Ophthalmol 2013 Jun;97(6):690-3. Epub 2012 Nov 30 doi: 10.1136/bjophthalmol-2012-302289. PMID: 23203697
Young TA, Burgess BL, Rao NP, Glasgow BJ, Straatsma BR
Am J Ophthalmol 2008 Feb;145(2):297-302. Epub 2007 Dec 11 doi: 10.1016/j.ajo.2007.09.028. PMID: 18062935
Shields JA, Shields CL, Slakter J, Wood W, Yannuzzi LA
Retina 2001;21(5):487-92. doi: 10.1097/00006982-200110000-00011. PMID: 11642378
Challa JK, Hunyor AB, Playfair TJ, Gregory-Roberts J, Lee LR
Aust N Z J Ophthalmol 1998 Feb;26(1):37-40. doi: 10.1046/j.1440-1606.1998.00078.x. PMID: 9524028

Therapy

Herráiz Lila V, Desco Esteban MC
Rev Esp Anestesiol Reanim (Engl Ed) 2024 Jan;71(1):64. Epub 2023 Sep 6 doi: 10.1016/j.redare.2022.05.010. PMID: 37678468
da Cruz NFS, Kawamuro M, Hilgert GR, Pipolo GSR, Maia M
Retin Cases Brief Rep 2022 Nov 1;16(6):727-730. doi: 10.1097/ICB.0000000000001034. PMID: 32618899
Young TA, Burgess BL, Rao NP, Glasgow BJ, Straatsma BR
Am J Ophthalmol 2008 Feb;145(2):297-302. Epub 2007 Dec 11 doi: 10.1016/j.ajo.2007.09.028. PMID: 18062935
Noel LP
Curr Opin Ophthalmol 1998 Jun;9(3):56-8. doi: 10.1097/00055735-199806000-00010. PMID: 10182101
Aylward GW, Orr G, Schwartz SD, Leaver PK
Br J Ophthalmol 1995 Aug;79(8):724-7. doi: 10.1136/bjo.79.8.724. PMID: 7547781Free PMC Article

Prognosis

Wright KW, Arow M, Zein M, Strube YNJ
Can J Ophthalmol 2021 Aug;56(4):244-249. Epub 2020 Dec 22 doi: 10.1016/j.jcjo.2020.11.012. PMID: 33358991
Angi M, Kalirai H, Taktak A, Hussain R, Groenewald C, Damato BE, Heimann H, Coupland SE
Br J Ophthalmol 2017 Aug;101(8):1143-1146. Epub 2017 Jun 8 doi: 10.1136/bjophthalmol-2017-310361. PMID: 28596284
Young TA, Burgess BL, Rao NP, Glasgow BJ, Straatsma BR
Am J Ophthalmol 2008 Feb;145(2):297-302. Epub 2007 Dec 11 doi: 10.1016/j.ajo.2007.09.028. PMID: 18062935
Noel LP
Curr Opin Ophthalmol 1998 Jun;9(3):56-8. doi: 10.1097/00055735-199806000-00010. PMID: 10182101
Noel LP, Bloom JN, Clarke WN, Bawazeer A
J Pediatr Ophthalmol Strabismus 1997 Mar-Apr;34(2):115-7. doi: 10.3928/0191-3913-19970301-12. PMID: 9083958

Clinical prediction guides

da Cruz NFS, Kawamuro M, Hilgert GR, Pipolo GSR, Maia M
Retin Cases Brief Rep 2022 Nov 1;16(6):727-730. doi: 10.1097/ICB.0000000000001034. PMID: 32618899
Lee JJ, Choi SK, Kwon HJ, Lee SM, Park SW, Byon IS, Lee JE
Korean J Ophthalmol 2021 Jun;35(3):207-214. Epub 2021 Jun 4 doi: 10.3341/kjo.2020.0124. PMID: 34120419Free PMC Article
Laver CR, Metcalfe AL, Szczygiel L, Yanai A, Sarunic MV, Gregory-Evans K
Eye (Lond) 2015 May;29(5):681-90. Epub 2015 Mar 13 doi: 10.1038/eye.2015.24. PMID: 25771816Free PMC Article
Jacobson SG, Boye SL, Aleman TS, Conlon TJ, Zeiss CJ, Roman AJ, Cideciyan AV, Schwartz SB, Komaromy AM, Doobrajh M, Cheung AY, Sumaroka A, Pearce-Kelling SE, Aguirre GD, Kaushal S, Maguire AM, Flotte TR, Hauswirth WW
Hum Gene Ther 2006 Aug;17(8):845-58. doi: 10.1089/hum.2006.17.845. PMID: 16942444
Challa JK, Hunyor AB, Playfair TJ, Gregory-Roberts J, Lee LR
Aust N Z J Ophthalmol 1998 Feb;26(1):37-40. doi: 10.1046/j.1440-1606.1998.00078.x. PMID: 9524028

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