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Abnormality of upper eyelashes

MedGen UID:
868076
•Concept ID:
C4022467
•
Anatomical Abnormality
HPO: HP:0040051

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of upper eyelashes

Professional guidelines

PubMed

Treatment of symptomatic epiblepharon with Botulinum toxin type A in patients under 2years of age.
de la Fuente Díez Y, Olvera Morales O, Chen López CY, Tovilla Canales JL, Nava Castañeda A
Arch Soc Esp Oftalmol (Engl Ed) 2020 Jan;95(1):9-14. Epub 2019 Dec 2 doi: 10.1016/j.oftal.2019.09.008. PMID: 31806264
Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations.
Plomp RG, van Lieshout MJS, Joosten KFM, Wolvius EB, van der Schroeff MP, Versnel SL, Poublon RML, Mathijssen IMJ
Plast Reconstr Surg 2016 Jan;137(1):191-204. doi: 10.1097/PRS.0000000000001896. PMID: 26710023
Marcus Gunn jaw-winking synkinesis: clinical features and management.
Demirci H, Frueh BR, Nelson CC
Ophthalmology 2010 Jul;117(7):1447-52. Epub 2010 Feb 25 doi: 10.1016/j.ophtha.2009.11.014. PMID: 20188419

Recent clinical studies

Etiology

Meibography-Guided Electroepilation for Congenital Distichiasis: A Novel Surgical Technique.
Sinha P, Anklesaria V, Singh S
Ophthalmic Plast Reconstr Surg 2024 May-Jun 01;40(3):352-355. Epub 2024 May 10 doi: 10.1097/IOP.0000000000002686. PMID: 38722779Free PMC Article
Treatment of symptomatic epiblepharon with Botulinum toxin type A in patients under 2years of age.
de la Fuente Díez Y, Olvera Morales O, Chen López CY, Tovilla Canales JL, Nava Castañeda A
Arch Soc Esp Oftalmol (Engl Ed) 2020 Jan;95(1):9-14. Epub 2019 Dec 2 doi: 10.1016/j.oftal.2019.09.008. PMID: 31806264
Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations.
Plomp RG, van Lieshout MJS, Joosten KFM, Wolvius EB, van der Schroeff MP, Versnel SL, Poublon RML, Mathijssen IMJ
Plast Reconstr Surg 2016 Jan;137(1):191-204. doi: 10.1097/PRS.0000000000001896. PMID: 26710023
Blepharoptosis correction: repositioning the levator aponeurosis.
Lee IJ, Park MC, Lim H, Kim JH, Lee SH
J Craniofac Surg 2011 Nov;22(6):2284-7. doi: 10.1097/SCS.0b013e31823278a6. PMID: 22075834
Eyelid abnormalities in lamellar ichthyoses.
Cruz AA, Menezes FA, Chaves R, Pinto Coelho R, Velasco EF, Kikuta H
Ophthalmology 2000 Oct;107(10):1895-8. doi: 10.1016/s0161-6420(00)00333-x. PMID: 11013195

Diagnosis

Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome.
Simmers R, Goodwin A, Al Saif H, Couser N
Ophthalmic Genet 2022 Oct;43(5):699-702. Epub 2022 Jun 27 doi: 10.1080/13816810.2022.2089358. PMID: 35762114
ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
Yates TM, Drucker M, Barnicoat A, Low K, Gerkes EH, Fry AE, Parker MJ, O'Driscoll M, Charles P, Cox H, Marey I, Keren B, Rinne T, McEntagart M, Ramachandran V, Drury S, Vansenne F, Sival DA, Herkert JC, Callewaert B, Tan WH, Balasubramanian M
Hum Mutat 2020 May;41(5):1042-1050. Epub 2020 Mar 5 doi: 10.1002/humu.24001. PMID: 32097528
Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview.
De Maria B, Mazzanti L, Roche N, Hennekam RC
Am J Med Genet A 2016 Aug;170(8):1989-2001. Epub 2016 May 19 doi: 10.1002/ajmg.a.37757. PMID: 27196381
Observations on Prostaglandin Orbitopathy.
Custer PL, Kent TL
Ophthalmic Plast Reconstr Surg 2016 Mar-Apr;32(2):102-5. doi: 10.1097/IOP.0000000000000431. PMID: 25719374
The Floating-Harbor syndrome.
Majewski F, Lenard HG
Eur J Pediatr 1991 Feb;150(4):250-2. doi: 10.1007/BF01955523. PMID: 2029915

Therapy

Human experience and efficacy of omidenepag isopropyl (Eybelis®; Omlonti®): Discovery to approval of the novel non-prostaglandin EP2-receptor-selective agonist ocular hypotensive drug.
Sharif NA
Curr Opin Pharmacol 2024 Feb;74:102426. Epub 2024 Jan 1 doi: 10.1016/j.coph.2023.102426. PMID: 38168596
Collarette Elimination and Demodex Mite Eradication with Topical Lotilaner Ophthalmic Solution, 0.25.
Gonzalez-Salinas R, Yeu E, Holdbrook M, Baba SN, Ceballos JC, Massaro-Corredor M, Corredor-Ortega C, Ramos-Betancourt N, Quiroz-Mercado H
J Ocul Pharmacol Ther 2021 Oct;37(8):479-484. Epub 2021 Aug 20 doi: 10.1089/jop.2021.0011. PMID: 34415795
Treatment of symptomatic epiblepharon with Botulinum toxin type A in patients under 2years of age.
de la Fuente Díez Y, Olvera Morales O, Chen López CY, Tovilla Canales JL, Nava Castañeda A
Arch Soc Esp Oftalmol (Engl Ed) 2020 Jan;95(1):9-14. Epub 2019 Dec 2 doi: 10.1016/j.oftal.2019.09.008. PMID: 31806264
Modified Hotz procedure with CO(2) laser ablation of the orbicularis oculi muscle for epiblepharon.
Lin CC, Lai CC
Can J Ophthalmol 2020 Feb;55(1):63-67. Epub 2019 Aug 8 doi: 10.1016/j.jcjo.2019.06.004. PMID: 31712047
Observations on Prostaglandin Orbitopathy.
Custer PL, Kent TL
Ophthalmic Plast Reconstr Surg 2016 Mar-Apr;32(2):102-5. doi: 10.1097/IOP.0000000000000431. PMID: 25719374

Prognosis

ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
Yates TM, Drucker M, Barnicoat A, Low K, Gerkes EH, Fry AE, Parker MJ, O'Driscoll M, Charles P, Cox H, Marey I, Keren B, Rinne T, McEntagart M, Ramachandran V, Drury S, Vansenne F, Sival DA, Herkert JC, Callewaert B, Tan WH, Balasubramanian M
Hum Mutat 2020 May;41(5):1042-1050. Epub 2020 Mar 5 doi: 10.1002/humu.24001. PMID: 32097528
Treatment of symptomatic epiblepharon with Botulinum toxin type A in patients under 2years of age.
de la Fuente Díez Y, Olvera Morales O, Chen López CY, Tovilla Canales JL, Nava Castañeda A
Arch Soc Esp Oftalmol (Engl Ed) 2020 Jan;95(1):9-14. Epub 2019 Dec 2 doi: 10.1016/j.oftal.2019.09.008. PMID: 31806264
Modified Hotz procedure with CO(2) laser ablation of the orbicularis oculi muscle for epiblepharon.
Lin CC, Lai CC
Can J Ophthalmol 2020 Feb;55(1):63-67. Epub 2019 Aug 8 doi: 10.1016/j.jcjo.2019.06.004. PMID: 31712047
Modified treatment of distichiasis with direct tarsal strip excision without mucosal graft.
Rozenberg A, Pokroy R, Langer P, Tsumi E, Hartstein ME
Orbit 2018 Oct;37(5):341-343. Epub 2018 Jan 9 doi: 10.1080/01676830.2017.1423356. PMID: 29313390
Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations.
Plomp RG, van Lieshout MJS, Joosten KFM, Wolvius EB, van der Schroeff MP, Versnel SL, Poublon RML, Mathijssen IMJ
Plast Reconstr Surg 2016 Jan;137(1):191-204. doi: 10.1097/PRS.0000000000001896. PMID: 26710023

Clinical prediction guides

Human experience and efficacy of omidenepag isopropyl (Eybelis®; Omlonti®): Discovery to approval of the novel non-prostaglandin EP2-receptor-selective agonist ocular hypotensive drug.
Sharif NA
Curr Opin Pharmacol 2024 Feb;74:102426. Epub 2024 Jan 1 doi: 10.1016/j.coph.2023.102426. PMID: 38168596
ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
Yates TM, Drucker M, Barnicoat A, Low K, Gerkes EH, Fry AE, Parker MJ, O'Driscoll M, Charles P, Cox H, Marey I, Keren B, Rinne T, McEntagart M, Ramachandran V, Drury S, Vansenne F, Sival DA, Herkert JC, Callewaert B, Tan WH, Balasubramanian M
Hum Mutat 2020 May;41(5):1042-1050. Epub 2020 Mar 5 doi: 10.1002/humu.24001. PMID: 32097528
Observations on Prostaglandin Orbitopathy.
Custer PL, Kent TL
Ophthalmic Plast Reconstr Surg 2016 Mar-Apr;32(2):102-5. doi: 10.1097/IOP.0000000000000431. PMID: 25719374
Blepharoptosis correction: repositioning the levator aponeurosis.
Lee IJ, Park MC, Lim H, Kim JH, Lee SH
J Craniofac Surg 2011 Nov;22(6):2284-7. doi: 10.1097/SCS.0b013e31823278a6. PMID: 22075834
Eyelid abnormalities in lamellar ichthyoses.
Cruz AA, Menezes FA, Chaves R, Pinto Coelho R, Velasco EF, Kikuta H
Ophthalmology 2000 Oct;107(10):1895-8. doi: 10.1016/s0161-6420(00)00333-x. PMID: 11013195

Recent systematic reviews

Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome.
Simmers R, Goodwin A, Al Saif H, Couser N
Ophthalmic Genet 2022 Oct;43(5):699-702. Epub 2022 Jun 27 doi: 10.1080/13816810.2022.2089358. PMID: 35762114
Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations.
Plomp RG, van Lieshout MJS, Joosten KFM, Wolvius EB, van der Schroeff MP, Versnel SL, Poublon RML, Mathijssen IMJ
Plast Reconstr Surg 2016 Jan;137(1):191-204. doi: 10.1097/PRS.0000000000001896. PMID: 26710023

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