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Abnormal eyelid physiology

MedGen UID:
1644818
Concept ID:
C4703593
Pathologic Function
HPO: HP:0031879

Definition

Any functional abnormality of the eyelid. [from HPO]

Professional guidelines

PubMed

Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R
Genes (Basel) 2021 Sep 9;12(9) doi: 10.3390/genes12091392. PMID: 34573374Free PMC Article
Periman LM, Perez VL, Saban DR, Lin MC, Neri P
J Ocul Pharmacol Ther 2020 Apr;36(3):137-146. Epub 2020 Mar 12 doi: 10.1089/jop.2019.0060. PMID: 32175799Free PMC Article
Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N; Kabuki Syndrome Medical Advisory Board
J Med Genet 2019 Feb;56(2):89-95. Epub 2018 Dec 4 doi: 10.1136/jmedgenet-2018-105625. PMID: 30514738

Recent clinical studies

Etiology

Szczotka-Flynn LB, Maguire MG, Ying GS, Lin MC, Bunya VY, Dana R, Asbell PA; Dry Eye Assessment and Management (DREAM) Study Research Group
Optom Vis Sci 2019 Jun;96(6):387-396. doi: 10.1097/OPX.0000000000001387. PMID: 31116166Free PMC Article
Vlaskamp DRM, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GMS, van de Laar IMBH, van Hagen JM, Ware TL, Webster RI, Malone S, Berkovic SF, Kalnins RM, Sicca F, Korenke GC, van Ravenswaaij-Arts CMA, Hildebrand MS, Mefford HC, Jiang Y, Guerrini R, Scheffer IE
Neurology 2019 Jan 8;92(2):e96-e107. Epub 2018 Dec 12 doi: 10.1212/WNL.0000000000006729. PMID: 30541864Free PMC Article
Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N; Kabuki Syndrome Medical Advisory Board
J Med Genet 2019 Feb;56(2):89-95. Epub 2018 Dec 4 doi: 10.1136/jmedgenet-2018-105625. PMID: 30514738
Ma J, Rubin BK, Voynow JA
Chest 2018 Jul;154(1):169-176. Epub 2017 Nov 21 doi: 10.1016/j.chest.2017.11.008. PMID: 29170036
Wieczorek D
Clin Genet 2013 Jun;83(6):499-510. Epub 2013 Apr 8 doi: 10.1111/cge.12123. PMID: 23565775

Diagnosis

Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R
Genes (Basel) 2021 Sep 9;12(9) doi: 10.3390/genes12091392. PMID: 34573374Free PMC Article
Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N; Kabuki Syndrome Medical Advisory Board
J Med Genet 2019 Feb;56(2):89-95. Epub 2018 Dec 4 doi: 10.1136/jmedgenet-2018-105625. PMID: 30514738
Saleem AA, Siddiqui SN
J Coll Physicians Surg Pak 2015 Oct;25 Suppl 2:S124-6. doi: 10.2015/JCPSP.S124S126. PMID: 26522198
Kalpana Kumari MK, Kamath S, Mysorekar VV, Nandini G
Indian J Pathol Microbiol 2008 Apr-Jun;51(2):228-9. doi: 10.4103/0377-4929.41664. PMID: 18603689
Driver PJ, Lemp MA
Surv Ophthalmol 1996 Mar-Apr;40(5):343-67. doi: 10.1016/s0039-6257(96)80064-6. PMID: 8779082

Therapy

Zeka N, Zogaj L, Gerguri A, Bejiqi R, Ratkoceri R, Maloku A, Mustafa A, Shahini L, Maxharaj J
J Med Case Rep 2022 Oct 3;16(1):360. doi: 10.1186/s13256-022-03537-x. PMID: 36192771Free PMC Article
Periman LM, Perez VL, Saban DR, Lin MC, Neri P
J Ocul Pharmacol Ther 2020 Apr;36(3):137-146. Epub 2020 Mar 12 doi: 10.1089/jop.2019.0060. PMID: 32175799Free PMC Article
Szczotka-Flynn LB, Maguire MG, Ying GS, Lin MC, Bunya VY, Dana R, Asbell PA; Dry Eye Assessment and Management (DREAM) Study Research Group
Optom Vis Sci 2019 Jun;96(6):387-396. doi: 10.1097/OPX.0000000000001387. PMID: 31116166Free PMC Article
Vlaskamp DRM, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GMS, van de Laar IMBH, van Hagen JM, Ware TL, Webster RI, Malone S, Berkovic SF, Kalnins RM, Sicca F, Korenke GC, van Ravenswaaij-Arts CMA, Hildebrand MS, Mefford HC, Jiang Y, Guerrini R, Scheffer IE
Neurology 2019 Jan 8;92(2):e96-e107. Epub 2018 Dec 12 doi: 10.1212/WNL.0000000000006729. PMID: 30541864Free PMC Article
Efron N, Brennan NA, Morgan PB, Wilson T
Prog Retin Eye Res 2016 Jul;53:140-174. Epub 2016 Apr 14 doi: 10.1016/j.preteyeres.2016.04.004. PMID: 27094372

Prognosis

Di Zazzo A, Cutrupi F, De Antoniis MG, Ricci M, Esposito G, Antonini M, Coassin M, Micera A, Perrella E, Bonini S
Invest Ophthalmol Vis Sci 2023 Dec 1;64(15):17. doi: 10.1167/iovs.64.15.17. PMID: 38095906Free PMC Article
Racz C, Dakpé S, Kadlub N, Testelin S, Devauchelle B, Rachwalski M, Picard A
J Craniomaxillofac Surg 2018 Jan;46(1):22-27. Epub 2017 Oct 27 doi: 10.1016/j.jcms.2017.10.012. PMID: 29239768
Chan D, Sokoya M, Ducic Y
Facial Plast Surg 2017 Dec;33(6):598-605. Epub 2017 Dec 1 doi: 10.1055/s-0037-1608711. PMID: 29195240
Saoud B, Allali F, Hassouni NH
Joint Bone Spine 2006 May;73(3):318-20. Epub 2005 Sep 16 doi: 10.1016/j.jbspin.2005.05.004. PMID: 16253536
Stevens CA, Sargent LA
Am J Med Genet 2002 Jan 1;107(1):30-7. doi: 10.1002/ajmg.10123. PMID: 11807864

Clinical prediction guides

Di Zazzo A, Cutrupi F, De Antoniis MG, Ricci M, Esposito G, Antonini M, Coassin M, Micera A, Perrella E, Bonini S
Invest Ophthalmol Vis Sci 2023 Dec 1;64(15):17. doi: 10.1167/iovs.64.15.17. PMID: 38095906Free PMC Article
Szczotka-Flynn LB, Maguire MG, Ying GS, Lin MC, Bunya VY, Dana R, Asbell PA; Dry Eye Assessment and Management (DREAM) Study Research Group
Optom Vis Sci 2019 Jun;96(6):387-396. doi: 10.1097/OPX.0000000000001387. PMID: 31116166Free PMC Article
Ma J, Rubin BK, Voynow JA
Chest 2018 Jul;154(1):169-176. Epub 2017 Nov 21 doi: 10.1016/j.chest.2017.11.008. PMID: 29170036
Efron N, Brennan NA, Morgan PB, Wilson T
Prog Retin Eye Res 2016 Jul;53:140-174. Epub 2016 Apr 14 doi: 10.1016/j.preteyeres.2016.04.004. PMID: 27094372
Mohammadzadeh Shanehsaz S, Rezazadeh A, Dandashli A
Dermatol Online J 2015 Feb 22;21(3) PMID: 25780981

Recent systematic reviews

Zaidman M, Novak CB, Borschel GH, Joachim K, Zuker RM
J Plast Reconstr Aesthet Surg 2021 Jul;74(7):1436-1445. Epub 2021 Mar 30 doi: 10.1016/j.bjps.2021.03.059. PMID: 33952434
Merdler-Rabinowicz R, Prat D, Pode-Shakked B, Abel G, Chorin O, Somech R, Raas-Rothschild A
Eur J Med Genet 2021 Jun;64(6):104210. Epub 2021 Mar 30 doi: 10.1016/j.ejmg.2021.104210. PMID: 33794347

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