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Lacrimal punctal atresia

MedGen UID:
354927
•Concept ID:
C1863201
•
Congenital Abnormality; Finding
Synonym: Atretic lacrimal puncta
 
HPO: HP:0007820

Definition

Congenital absence or closure of the opening of the lacrimal punctum. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLacrimal punctal atresia

Conditions with this feature

Alacrima, congenital, autosomal dominant
MedGen UID:
934803
•Concept ID:
C4310836
•
Disease or Syndrome
See: Condition Record
Alacrima, congenital, autosomal dominant

Professional guidelines

PubMed

Punctal agenesis: Embryology, presentation, management modalities and outcomes.
Dohlman JC, Habib LA, Freitag SK
Ann Anat 2019 Jul;224:113-116. Epub 2019 May 16 doi: 10.1016/j.aanat.2019.04.004. PMID: 31102704
Evaluation and differential diagnosis of keratoconjunctivitis sicca.
Lemp MA
J Rheumatol Suppl 2000 Dec;61:11-4. PMID: 11128698
The treatment of aqueous-deficient dry eye with removable punctal plugs. A clinical and impression-cytologic study.
Willis RM, Folberg R, Krachmer JH, Holland EJ
Ophthalmology 1987 May;94(5):514-8. doi: 10.1016/s0161-6420(87)33417-7. PMID: 3601366

Recent clinical studies

Etiology

Imaging and anatomical parameters of the lacrimal punctum and vertical canaliculus using optical coherence tomography.
Hu J, Xiang N, Li GG, Luo B, Zhang Y, Zhu Y, Liu R
Int J Med Sci 2021;18(12):2493-2499. Epub 2021 Apr 23 doi: 10.7150/ijms.58291. PMID: 34104080Free PMC Article
Ocular manifestations of ectodermal dysplasia.
Landau Prat D, Katowitz WR, Strong A, Katowitz JA
Orphanet J Rare Dis 2021 May 1;16(1):197. doi: 10.1186/s13023-021-01824-2. PMID: 33933124Free PMC Article
Lacrimal drainage system involvement in Peters anomaly: clinical features and outcomes.
Bothra N, Sharma A, Ali MJ
Orbit 2021 Dec;40(6):509-512. Epub 2020 Sep 8 doi: 10.1080/01676830.2020.1818263. PMID: 32896195
Characterizing the lacrimal punctal region using anterior segment optical coherence tomography.
Timlin HM, Keane PA, Day AC, Salam T, Abdullah M, Rose GE, Ezra DG
Acta Ophthalmol 2016 Mar;94(2):154-9. Epub 2015 Dec 9 doi: 10.1111/aos.12906. PMID: 26648481
Lacrimal and nasal masquerades of congenital nasolacrimal duct obstructions: etiology, management, and outcomes.
Kamal S, Ali MJ, Gupta A, Naik MN
Int Ophthalmol 2015 Dec;35(6):807-10. Epub 2015 Feb 14 doi: 10.1007/s10792-015-0050-1. PMID: 25680420

Diagnosis

Imaging and anatomical parameters of the lacrimal punctum and vertical canaliculus using optical coherence tomography.
Hu J, Xiang N, Li GG, Luo B, Zhang Y, Zhu Y, Liu R
Int J Med Sci 2021;18(12):2493-2499. Epub 2021 Apr 23 doi: 10.7150/ijms.58291. PMID: 34104080Free PMC Article
Updates on congenital lacrimal drainage anomalies and their association with syndromes and systemic disorders: A major review.
Ali MJ
Ann Anat 2021 Jan;233:151613. Epub 2020 Oct 21 doi: 10.1016/j.aanat.2020.151613. PMID: 33098980
Lacrimal drainage system involvement in Peters anomaly: clinical features and outcomes.
Bothra N, Sharma A, Ali MJ
Orbit 2021 Dec;40(6):509-512. Epub 2020 Sep 8 doi: 10.1080/01676830.2020.1818263. PMID: 32896195
Lacrimal and nasal masquerades of congenital nasolacrimal duct obstructions: etiology, management, and outcomes.
Kamal S, Ali MJ, Gupta A, Naik MN
Int Ophthalmol 2015 Dec;35(6):807-10. Epub 2015 Feb 14 doi: 10.1007/s10792-015-0050-1. PMID: 25680420
Evaluation and differential diagnosis of keratoconjunctivitis sicca.
Lemp MA
J Rheumatol Suppl 2000 Dec;61:11-4. PMID: 11128698

Therapy

Pushed monocanalicular intubation: a preliminary report.
Fayet B, Racy E, Renard G
J Fr Ophtalmol 2010 Mar;33(3):145-51. Epub 2010 Feb 24 doi: 10.1016/j.jfo.2010.01.013. PMID: 20185206
Bilateral corneal ulcerations after superior punctal monocanalicular intubations in a child with trisomy-21.
Markowitz GD
J AAPOS 2004 Jun;8(3):288-9. doi: 10.1016/j.jaapos.2004.01.006. PMID: 15226736
Ocular surface, ocular adnexal, and lacrimal complications associated with the use of systemic 5-fluorouracil.
Eiseman AS, Flanagan JC, Brooks AB, Mitchell EP, Pemberton CH
Ophthalmic Plast Reconstr Surg 2003 May;19(3):216-24. doi: 10.1097/01.iop.0000066648.33513.3d. PMID: 12918558
Keratoconus associated with continual eye rubbing due to punctal agenesis.
Lindsay RG, Bruce AS, Gutteridge IF
Cornea 2000 Jul;19(4):567-9. doi: 10.1097/00003226-200007000-00034. PMID: 10928781
Lacrimal surgery in children.
Welham RA, Hughes SM
Am J Ophthalmol 1985 Jan 15;99(1):27-34. doi: 10.1016/s0002-9394(14)75862-3. PMID: 3966516

Prognosis

Long-term Results of Punctoplasty With Canalicular Triangular Flap in Punctal Stenosis.
Taskiran Comez A, Kirmaci Kabakci A, Livan Turkoglu EH
Ophthalmic Plast Reconstr Surg 2024 Nov-Dec 01;40(6):696-700. Epub 2024 May 9 doi: 10.1097/IOP.0000000000002701. PMID: 38722776
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
Management of unilateral versus bilateral lacrimal drainage system dysfunction in Down syndrome.
Al-Faky YH, Mousa A, Alkhiary HT, Al-Mosallam AR
J Pediatr Ophthalmol Strabismus 2012 Mar-Apr;49(2):109-13. Epub 2011 Jul 19 doi: 10.3928/01913913-20110712-01. PMID: 21766731
Ocular surface, ocular adnexal, and lacrimal complications associated with the use of systemic 5-fluorouracil.
Eiseman AS, Flanagan JC, Brooks AB, Mitchell EP, Pemberton CH
Ophthalmic Plast Reconstr Surg 2003 May;19(3):216-24. doi: 10.1097/01.iop.0000066648.33513.3d. PMID: 12918558
Paediatric dacryocystorhinostomy.
Hakin KN, Sullivan TJ, Sharma A, Welham RA
Aust N Z J Ophthalmol 1994 Nov;22(4):231-5. doi: 10.1111/j.1442-9071.1994.tb00789.x. PMID: 7727099

Clinical prediction guides

GPC4 truncating variant associated with Keipert syndrome and lacrimal punctal agenesis.
Kuroda Y, Uehara T, Enomoto Y, Naruto T, Matsumura N, Kurosawa K
Am J Med Genet A 2024 Nov;194(11):e63799. Epub 2024 Jun 23 doi: 10.1002/ajmg.a.63799. PMID: 38923342
Long-term Results of Punctoplasty With Canalicular Triangular Flap in Punctal Stenosis.
Taskiran Comez A, Kirmaci Kabakci A, Livan Turkoglu EH
Ophthalmic Plast Reconstr Surg 2024 Nov-Dec 01;40(6):696-700. Epub 2024 May 9 doi: 10.1097/IOP.0000000000002701. PMID: 38722776
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
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
Effectiveness of primary monocanalicularnasal intubation with Monoka tubes and nasal endoscopic findings for congenital nasolacrimal duct obstruction with enlarged lacrimal sac and chronic dacryocystitis.
Lee H, Ahn J, Shin HH, Park M, Baek S
J Craniofac Surg 2012 Nov;23(6):1638-41. doi: 10.1097/SCS.0b013e31825dad6c. PMID: 23147293

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