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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
Hartnett ME
Am J Ophthalmol 2020 Oct;218:208-213. Epub 2020 May 23 doi: 10.1016/j.ajo.2020.05.025. PMID: 32450064Free 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
Bashinsky AL
N C Med J 2017 Mar-Apr;78(2):124-128. doi: 10.18043/ncm.78.2.124. PMID: 28420777

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
Hartnett ME
Am J Ophthalmol 2020 Oct;218:208-213. Epub 2020 May 23 doi: 10.1016/j.ajo.2020.05.025. PMID: 32450064Free 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
Bashinsky AL
N C Med J 2017 Mar-Apr;78(2):124-128. doi: 10.18043/ncm.78.2.124. PMID: 28420777

Therapy

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
Hartnett ME
Am J Ophthalmol 2020 Oct;218:208-213. Epub 2020 May 23 doi: 10.1016/j.ajo.2020.05.025. PMID: 32450064Free 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
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

Prognosis

Bhatnagar A, Skrehot HC, Bhatt A, Herce H, Weng CY
JAMA Ophthalmol 2023 May 1;141(5):479-485. doi: 10.1001/jamaophthalmol.2023.0809. PMID: 37052930Free PMC Article
de Las Rivas Ramírez N, Luque Aranda G, Rius Díaz F, Pérez Frías FJ, Sánchez Tamayo T
Sci Rep 2022 Dec 20;12(1):21977. doi: 10.1038/s41598-022-26229-4. PMID: 36539470Free PMC Article
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
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

White H, Kremer L, Edmonds L, Young A
N Z Med J 2024 Jul 5;137(1598):33-43. doi: 10.26635/6965.6486. PMID: 38963929
Iu LPL, Yip WWK, Lok JYC, Fan MCY, Lai CHY, Ho M, Young AL
Br J Ophthalmol 2023 Jul;107(7):1007-1011. Epub 2022 Feb 17 doi: 10.1136/bjophthalmol-2021-320670. PMID: 35177402
Barillà D, Guagliano R, Bertone C, Maffia A, Bruttini C, Periti F, Plaitano C, Arpa C, Montescani S, Tinelli C, Riva I, Quaranta L
Adv Ther 2020 Feb;37(2):860-868. Epub 2020 Jan 8 doi: 10.1007/s12325-019-01209-9. PMID: 31916031
Wallace DK, Freedman SF, Hartnett ME, Quinn GE
Arch Ophthalmol 2011 May;129(5):591-6. doi: 10.1001/archophthalmol.2011.63. PMID: 21555612Free PMC Article
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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