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Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome

MedGen UID:
394835
•Concept ID:
C2678482
•
Disease or Syndrome
Synonym: Microtia with nasolacrimal duct imperforation and eye coloboma
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0012739
OMIM®: 611863
Orphanet: ORPHA139450

Definition

This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. [from ORDO]

Clinical features

From HPO
Microtia
MedGen UID:
57535
•Concept ID:
C0152423
•
Congenital Abnormality
Underdevelopment of the external ear.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMicrotia-eye coloboma-imperforation of the nasolacrimal duct syndrome
Follow this link to review classifications for Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome in Orphanet.

Professional guidelines

PubMed

Management of congenital nasolacrimal duct obstruction in down syndrome.
Landau Prat D, Tadros S, Revere KE, Katowitz JA, Katowitz WR
Eye (Lond) 2023 Mar;37(4):739-743. Epub 2022 Apr 4 doi: 10.1038/s41433-022-02047-w. PMID: 35379922Free PMC Article
Botulinum neurotoxin injection for the treatment of epiphora in nasolacrimal duct obstruction.
Girard B, Piaton JM, Keller P, Abadie C, Nguyen TH
J Fr Ophtalmol 2017 Oct;40(8):661-665. Epub 2017 Aug 25 doi: 10.1016/j.jfo.2017.03.006. PMID: 28847443
Evaluation and management of congenital nasolacrimal duct obstruction.
Kapadia MK, Freitag SK, Woog JJ
Otolaryngol Clin North Am 2006 Oct;39(5):959-77, vii. doi: 10.1016/j.otc.2006.08.004. PMID: 16982257

Recent clinical studies

Etiology

Management of congenital nasolacrimal duct obstruction in down syndrome.
Landau Prat D, Tadros S, Revere KE, Katowitz JA, Katowitz WR
Eye (Lond) 2023 Mar;37(4):739-743. Epub 2022 Apr 4 doi: 10.1038/s41433-022-02047-w. PMID: 35379922Free PMC Article
Cerebral palsy and associated complex congenital nasolacrimal duct obstruction and pediatric acute dacryocystitis.
Bothra N, Ali MJ
Orbit 2021 Oct;40(5):412-414. Epub 2020 Jul 27 doi: 10.1080/01676830.2020.1797827. PMID: 32718225
Graft versus host disease: what should the oculoplastic surgeon know?
Tung CI
Curr Opin Ophthalmol 2017 Sep;28(5):499-504. doi: 10.1097/ICU.0000000000000400. PMID: 28598869
The Etiology of Epiphora: A Multifactorial Issue.
Nemet AY
Semin Ophthalmol 2016;31(3):275-9. Epub 2014 Nov 6 doi: 10.3109/08820538.2014.962163. PMID: 25375763
Midface anomalies in children.
Lowe LH, Booth TN, Joglar JM, Rollins NK
Radiographics 2000 Jul-Aug;20(4):907-22; quiz 1106-7, 1112. doi: 10.1148/radiographics.20.4.g00jl07907. PMID: 10903683

Diagnosis

Management of congenital nasolacrimal duct obstruction in down syndrome.
Landau Prat D, Tadros S, Revere KE, Katowitz JA, Katowitz WR
Eye (Lond) 2023 Mar;37(4):739-743. Epub 2022 Apr 4 doi: 10.1038/s41433-022-02047-w. PMID: 35379922Free PMC Article
COVID-19 and the Eye: Ocular Manifestations, Treatment and Protection Measures.
Yener AÜ
Ocul Immunol Inflamm 2021 Aug 18;29(6):1225-1233. Epub 2021 Oct 14 doi: 10.1080/09273948.2021.1977829. PMID: 34648417
Branchio-oto-renal syndrome.
Jalil J, Basheer F, Shafique M
J Coll Physicians Surg Pak 2014 May;24(5):367-8. PMID: 24848399
Developmental maxillofacial anomalies.
Baxter DJ, Shroff MM
Semin Ultrasound CT MR 2011 Dec;32(6):555-68. doi: 10.1053/j.sult.2011.06.004. PMID: 22108218
Lacrimal system abnormalities.
Moore BD
Optom Vis Sci 1994 Mar;71(3):182-3. doi: 10.1097/00006324-199403000-00006. PMID: 8196943

Therapy

The ocular graft-versus-host disease: the path from current knowledge to future managements.
Chiang TL, Sun YC, Wu JH, Hsieh YT, Huang WL, Chen WL
Eye (Lond) 2023 Jul;37(10):1982-1992. Epub 2022 Nov 4 doi: 10.1038/s41433-022-02288-9. PMID: 36333534Free PMC Article
Ocular surface system alterations in ocular graft-versus-host disease: all the pieces of the complex puzzle.
Giannaccare G, Pellegrini M, Bernabei F, Scorcia V, Campos E
Graefes Arch Clin Exp Ophthalmol 2019 Jul;257(7):1341-1351. Epub 2019 Apr 3 doi: 10.1007/s00417-019-04301-6. PMID: 30944986
Botulinum neurotoxin injection for the treatment of epiphora in nasolacrimal duct obstruction.
Girard B, Piaton JM, Keller P, Abadie C, Nguyen TH
J Fr Ophtalmol 2017 Oct;40(8):661-665. Epub 2017 Aug 25 doi: 10.1016/j.jfo.2017.03.006. PMID: 28847443
Graft versus host disease: what should the oculoplastic surgeon know?
Tung CI
Curr Opin Ophthalmol 2017 Sep;28(5):499-504. doi: 10.1097/ICU.0000000000000400. PMID: 28598869
Management and therapy of dry eye disease: report of the Management and Therapy Subcommittee of the International Dry Eye WorkShop (2007).
Ocul Surf 2007 Apr;5(2):163-78. doi: 10.1016/s1542-0124(12)70085-x. PMID: 17508120

Prognosis

Bony Congenital Nasolacrimal Duct Obstruction: A Novel Phenotype of Aplasia of Lacrimal and Major Salivary Glands.
Feng ZX, Liu W, Li Z, Cui Y, Li L, Zhang C
Ophthalmology 2024 May;131(5):589-594. Epub 2023 Dec 9 doi: 10.1016/j.ophtha.2023.12.003. PMID: 38081329
Prevalence and Risk Factors of Dry Eye Symptoms after Successful Dacryocystorhinostomy for Patients with Lacrimal Passage Obstruction.
Jin Y, Guo Y, Liu Y, Wang Y, Qin G, Tian Y, Li X
Eur J Ophthalmol 2022 Sep;32(5):2662-2669. Epub 2021 Dec 21 doi: 10.1177/11206721211069739. PMID: 34931533
Outcomes of primary powered endoscopic dacryocystorhinostomy in syndromic congenital nasolacrimal duct obstruction.
Singh S, Selva D, Nayak A, Psaltis A, Ali MJ
Orbit 2020 Feb;39(1):1-4. Epub 2019 Mar 20 doi: 10.1080/01676830.2019.1582072. PMID: 30892112
Success rates of endoscopic-assisted probing for congenital nasolacrimal duct obstruction in children.
Theodoropoulou S, Sutherland MS, Haddow K, Blaikie A
J Laryngol Otol 2013 Aug;127(8):794-8. Epub 2013 Jun 27 doi: 10.1017/S0022215113001370. PMID: 23803229
Paediatric powered endonasal dacryocystorhinostomy.
Al-Nuaimi D, Inkster C, Lobo C
Eur Arch Otorhinolaryngol 2011 Dec;268(12):1823-8. Epub 2011 Apr 26 doi: 10.1007/s00405-011-1605-z. PMID: 21516520

Clinical prediction guides

Tear instability in the fellow eye of unilateral nasolacrimal obstruction and resolution with dacryocystorhinostomy.
Tıskaoğlu NS, Yazıcı A
Orbit 2023 Aug;42(4):404-410. Epub 2022 Sep 7 doi: 10.1080/01676830.2022.2119261. PMID: 36069079
Prevalence and Risk Factors of Dry Eye Symptoms after Successful Dacryocystorhinostomy for Patients with Lacrimal Passage Obstruction.
Jin Y, Guo Y, Liu Y, Wang Y, Qin G, Tian Y, Li X
Eur J Ophthalmol 2022 Sep;32(5):2662-2669. Epub 2021 Dec 21 doi: 10.1177/11206721211069739. PMID: 34931533
A case of blepharophimosis: Freeman Sheldon syndrome.
Bowman S, Noble G, Rahmani B, Mets M, Ralay Ranaivo H, Castelluccio V
Ophthalmic Genet 2022 Feb;43(1):130-133. Epub 2021 Oct 19 doi: 10.1080/13816810.2021.1989603. PMID: 34664542
Ocular surface system alterations in ocular graft-versus-host disease: all the pieces of the complex puzzle.
Giannaccare G, Pellegrini M, Bernabei F, Scorcia V, Campos E
Graefes Arch Clin Exp Ophthalmol 2019 Jul;257(7):1341-1351. Epub 2019 Apr 3 doi: 10.1007/s00417-019-04301-6. PMID: 30944986
Botulinum neurotoxin injection for the treatment of epiphora in nasolacrimal duct obstruction.
Girard B, Piaton JM, Keller P, Abadie C, Nguyen TH
J Fr Ophtalmol 2017 Oct;40(8):661-665. Epub 2017 Aug 25 doi: 10.1016/j.jfo.2017.03.006. PMID: 28847443

Recent systematic reviews

COVID-19: Ophthalmological Aspects of the SARS-CoV 2 Global Pandemic.
Siedlecki J, Brantl V, Schworm B, Mayer WJ, Gerhardt M, Michalakis S, Kreutzer T, Priglinger S
Klin Monbl Augenheilkd 2020 May;237(5):675-680. Epub 2020 May 6 doi: 10.1055/a-1164-9381. PMID: 32375197Free PMC Article

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