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  • The following term was not found in MedGen: intersection<.>opopop.

Retinopathy of prematurity(ROP)

MedGen UID:
48438
Concept ID:
C0035344
Disease or Syndrome
Synonyms: Retrolental fibroplasia; ROP
SNOMED CT: Retinopathy of prematurity (415297005); RLF - Retrolental fibroplasia (415297005); ROP - Retinopathy of prematurity (415297005); Retrolental fibroplasia (415297005); Terry's syndrome (415297005)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0500049
Monarch Initiative: MONDO:0006952
OMIM®: 133780; 604579
Orphanet: ORPHA90050

Definition

An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness. [from HPO]

Conditions with this feature

Lymphatic malformation 13
MedGen UID:
1840915
Concept ID:
C5830279
Disease or Syndrome
Lymphatic malformation-13 (LMPHM13) is characterized by the presence of nonimmune hydrops fetalis which often resolves with age. Capillary or cavernous hemangiomas are present in most patients, as are cardiac defects, often mild (Abdelrahman et al., 2018). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100.
Xerosis and growth failure with immune and pulmonary dysfunction syndrome
MedGen UID:
1848919
Concept ID:
C5882692
Disease or Syndrome
Xerosis and growth failure with immune and pulmonary dysfunction syndrome (XGIP) is characterized by premature birth, intrauterine and postnatal growth retardation, and collodion membrane or collodion-like skin at birth with dry skin thereafter. Patients also exhibit bronchopulmonary disease and thrombocytopenia and neutropenia. Variable features include cardiac anomalies, seizures, encephalopathy, and cholestasis, and cataract has been observed. Affected individuals die within the first year of life (Shamseldin et al., 2023).

Professional guidelines

PubMed

Lamary M, Bertoni CB, Schwabenbauer K, Ibrahim J
Curr Opin Pediatr 2023 Apr 1;35(2):209-217. Epub 2023 Feb 1 doi: 10.1097/MOP.0000000000001224. PMID: 36722754
Bancalari A, Schade R
Am J Perinatol 2022 Jan;39(1):22-30. Epub 2020 Jun 16 doi: 10.1055/s-0040-1713181. PMID: 32544962
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

Recent clinical studies

Etiology

Dammann O, Hartnett ME, Stahl A
Dev Med Child Neurol 2023 May;65(5):625-631. Epub 2022 Nov 21 doi: 10.1111/dmcn.15468. PMID: 36408783
Sabri K, Ells AL, Lee EY, Dutta S, Vinekar A
Pediatrics 2022 Sep 1;150(3) doi: 10.1542/peds.2021-053924. PMID: 35948728
Dogra MR, Katoch D, Dogra M
Indian J Pediatr 2017 Dec;84(12):930-936. Epub 2017 Jul 4 doi: 10.1007/s12098-017-2404-3. PMID: 28674824
Bashinsky AL
N C Med J 2017 Mar-Apr;78(2):124-128. doi: 10.18043/ncm.78.2.124. PMID: 28420777
International Committee for the Classification of Retinopathy of Prematurity
Arch Ophthalmol 2005 Jul;123(7):991-9. doi: 10.1001/archopht.123.7.991. PMID: 16009843

Diagnosis

Dammann O, Hartnett ME, Stahl A
Dev Med Child Neurol 2023 May;65(5):625-631. Epub 2022 Nov 21 doi: 10.1111/dmcn.15468. PMID: 36408783
Sabri K, Ells AL, Lee EY, Dutta S, Vinekar A
Pediatrics 2022 Sep 1;150(3) doi: 10.1542/peds.2021-053924. PMID: 35948728
Dogra MR, Katoch D, Dogra M
Indian J Pediatr 2017 Dec;84(12):930-936. Epub 2017 Jul 4 doi: 10.1007/s12098-017-2404-3. PMID: 28674824
Bashinsky AL
N C Med J 2017 Mar-Apr;78(2):124-128. doi: 10.18043/ncm.78.2.124. PMID: 28420777
International Committee for the Classification of Retinopathy of Prematurity
Arch Ophthalmol 2005 Jul;123(7):991-9. doi: 10.1001/archopht.123.7.991. PMID: 16009843

Therapy

Stahl A, Sukgen EA, Wu WC, Lepore D, Nakanishi H, Mazela J, Moshfeghi DM, Vitti R, Athanikar A, Chu K, Iveli P, Zhao F, Schmelter T, Leal S, Köfüncü E, Azuma N; FIREFLEYE Study Group
JAMA 2022 Jul 26;328(4):348-359. doi: 10.1001/jama.2022.10564. PMID: 35881122Free PMC Article
Hellström A, Nilsson AK, Wackernagel D, Pivodic A, Vanpee M, Sjöbom U, Hellgren G, Hallberg B, Domellöf M, Klevebro S, Hellström W, Andersson M, Lund AM, Löfqvist C, Elfvin A, Sävman K, Hansen-Pupp I, Hård AL, Smith LEH, Ley D
JAMA Pediatr 2021 Apr 1;175(4):359-367. doi: 10.1001/jamapediatrics.2020.5653. PMID: 33523106Free PMC Article
Fogarty M, Osborn DA, Askie L, Seidler AL, Hunter K, Lui K, Simes J, Tarnow-Mordi W
Am J Obstet Gynecol 2018 Jan;218(1):1-18. Epub 2017 Oct 30 doi: 10.1016/j.ajog.2017.10.231. PMID: 29097178
Dutta S, Singh B, Chessell L, Wilson J, Janes M, McDonald K, Shahid S, Gardner VA, Hjartarson A, Purcha M, Watson J, de Boer C, Gaal B, Fusch C
Nutrients 2015 Jan 8;7(1):423-42. doi: 10.3390/nu7010423. PMID: 25580815Free PMC Article
Mintz-Hittner HA, Kennedy KA, Chuang AZ; BEAT-ROP Cooperative Group
N Engl J Med 2011 Feb 17;364(7):603-15. doi: 10.1056/NEJMoa1007374. PMID: 21323540Free PMC Article

Prognosis

Horbar JD, Greenberg LT, Buzas JS, Ehret DEY, Soll RF, Edwards EM
Pediatrics 2024 Jan 1;153(1) doi: 10.1542/peds.2023-064153. PMID: 38053449
Fierson WM; AMERICAN ACADEMY OF PEDIATRICS Section on Ophthalmology; AMERICAN ACADEMY OF OPHTHALMOLOGY; AMERICAN ASSOCIATION FOR PEDIATRIC OPHTHALMOLOGY AND STRABISMUS; AMERICAN ASSOCIATION OF CERTIFIED ORTHOPTISTS
Pediatrics 2018 Dec;142(6) doi: 10.1542/peds.2018-3061. PMID: 30478242
Askie LM, Darlow BA, Finer N, Schmidt B, Stenson B, Tarnow-Mordi W, Davis PG, Carlo WA, Brocklehurst P, Davies LC, Das A, Rich W, Gantz MG, Roberts RS, Whyte RK, Costantini L, Poets C, Asztalos E, Battin M, Halliday HL, Marlow N, Tin W, King A, Juszczak E, Morley CJ, Doyle LW, Gebski V, Hunter KE, Simes RJ; Neonatal Oxygenation Prospective Meta-analysis (NeOProM) Collaboration
JAMA 2018 Jun 5;319(21):2190-2201. doi: 10.1001/jama.2018.5725. PMID: 29872859Free PMC Article
Dogra MR, Katoch D, Dogra M
Indian J Pediatr 2017 Dec;84(12):930-936. Epub 2017 Jul 4 doi: 10.1007/s12098-017-2404-3. PMID: 28674824
Jordan CO
Pediatr Clin North Am 2014 Jun;61(3):567-77. Epub 2014 Mar 26 doi: 10.1016/j.pcl.2014.03.003. PMID: 24852153

Clinical prediction guides

Karmouta R, Strawbridge JC, Langston S, Altendahl M, Khitri M, Chu A, Tsui I
JAMA Ophthalmol 2023 Dec 1;141(12):1125-1132. doi: 10.1001/jamaophthalmol.2023.4787. PMID: 37883103Free PMC Article
Thirunavukarasu AJ, Hassan R, Savant SV, Hamilton DL
Pain Pract 2022 Sep;22(7):642-651. Epub 2022 Jun 27 doi: 10.1111/papr.13138. PMID: 35703418Free PMC Article
Lin L, Binenbaum G
Semin Perinatol 2019 Oct;43(6):352-359. Epub 2019 May 10 doi: 10.1053/j.semperi.2019.05.008. PMID: 31221520
Casteels I, Cassiman C, Van Calster J, Allegaert K
Eur J Pediatr 2012 Jun;171(6):887-93. Epub 2011 Nov 4 doi: 10.1007/s00431-011-1610-7. PMID: 22052209
International Committee for the Classification of Retinopathy of Prematurity
Arch Ophthalmol 2005 Jul;123(7):991-9. doi: 10.1001/archopht.123.7.991. PMID: 16009843

Recent systematic reviews

Shah PS, Torgalkar R, Shah VS
Cochrane Database Syst Rev 2023 Aug 29;8(8):CD004950. doi: 10.1002/14651858.CD004950.pub4. PMID: 37643989Free PMC Article
Ho JJ, Subramaniam P, Davis PG
Cochrane Database Syst Rev 2020 Oct 15;10(10):CD002271. doi: 10.1002/14651858.CD002271.pub3. PMID: 33058208Free PMC Article
Miller J, Tonkin E, Damarell RA, McPhee AJ, Suganuma M, Suganuma H, Middleton PF, Makrides M, Collins CT
Nutrients 2018 May 31;10(6) doi: 10.3390/nu10060707. PMID: 29857555Free PMC Article
McCall EM, Alderdice F, Halliday HL, Vohra S, Johnston L
Cochrane Database Syst Rev 2018 Feb 12;2(2):CD004210. doi: 10.1002/14651858.CD004210.pub5. PMID: 29431872Free PMC Article
Fogarty M, Osborn DA, Askie L, Seidler AL, Hunter K, Lui K, Simes J, Tarnow-Mordi W
Am J Obstet Gynecol 2018 Jan;218(1):1-18. Epub 2017 Oct 30 doi: 10.1016/j.ajog.2017.10.231. PMID: 29097178

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