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Malformed lacrimal duct

MedGen UID:
870314
Concept ID:
C4024757
Anatomical Abnormality
Synonym: Malformed lacrimal ducts
 
HPO: HP:0007993

Definition

Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies. [from HPO]

Term Hierarchy

Conditions with this feature

Fraser syndrome 1
MedGen UID:
1639061
Concept ID:
C4551480
Disease or Syndrome
Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). Genetic Heterogeneity of Fraser Syndrome Fraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (608945) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3; 617667) is caused by mutation in the GRIP1 gene (604597) on chromosome 12q14. See Bowen syndrome (211200) for a comparable but probably distinct syndrome of multiple congenital malformations.

Professional guidelines

PubMed

Nair JR, Syed R, Chan IYM, Gorelik N, Chankowsky J, Del Carpio-O'Donovan R
Br J Radiol 2022 Jul 1;95(1135):20211333. Epub 2022 May 19 doi: 10.1259/bjr.20211333. PMID: 35522773Free 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
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

Recent clinical studies

Etiology

Ali MJ
Prog Retin Eye Res 2023 Sep;96:101193. Epub 2023 Jul 1 doi: 10.1016/j.preteyeres.2023.101193. PMID: 37394093
Kumar NR, Praveen M, Narasimhan R, Khamar P, D'Souza S, Sinha-Roy A, Sethu S, Shetty R, Ghosh A
Indian J Ophthalmol 2023 Apr;71(4):1190-1202. doi: 10.4103/IJO.IJO_2981_22. PMID: 37026250Free PMC Article
Millett M, Hyasat JG, Lueder GT
Ophthalmic Genet 2023 Aug;44(4):401-402. Epub 2023 Jan 13 doi: 10.1080/13816810.2022.2127151. PMID: 36636984
Allen RC
Curr Opin Ophthalmol 2014 Sep;25(5):424-31. doi: 10.1097/ICU.0000000000000092. PMID: 25029093
Mathrawala NR, Hegde RJ
J Indian Soc Pedod Prev Dent 2011 Apr-Jun;29(2):168-70. doi: 10.4103/0970-4388.84693. PMID: 21911959

Diagnosis

Millett M, Hyasat JG, Lueder GT
Ophthalmic Genet 2023 Aug;44(4):401-402. Epub 2023 Jan 13 doi: 10.1080/13816810.2022.2127151. PMID: 36636984
Heichel J, Heindl LM, Struck HG
Klin Monbl Augenheilkd 2022 Jan;239(1):46-56. Epub 2022 Feb 4 doi: 10.1055/a-1717-2110. PMID: 35120377
Zhao Z, Allen RC
Orbit 2022 Apr;41(2):162-169. Epub 2021 Sep 5 doi: 10.1080/01676830.2021.1974057. PMID: 34486478
Örge FH, Boente CS
Pediatr Clin North Am 2014 Jun;61(3):529-39. doi: 10.1016/j.pcl.2014.03.002. PMID: 24852150
Moore BD
Optom Vis Sci 1994 Mar;71(3):182-3. doi: 10.1097/00006324-199403000-00006. PMID: 8196943

Therapy

Ali MJ
Prog Retin Eye Res 2023 Sep;96:101193. Epub 2023 Jul 1 doi: 10.1016/j.preteyeres.2023.101193. PMID: 37394093
Kumar NR, Praveen M, Narasimhan R, Khamar P, D'Souza S, Sinha-Roy A, Sethu S, Shetty R, Ghosh A
Indian J Ophthalmol 2023 Apr;71(4):1190-1202. doi: 10.4103/IJO.IJO_2981_22. PMID: 37026250Free PMC Article
Jamshidian Tehrani M, Asadi Khameneh E, Veisi A
Aesthetic Plast Surg 2021 Feb;45(1):255-260. Epub 2020 Aug 31 doi: 10.1007/s00266-020-01929-2. PMID: 32869132
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
Mathrawala NR, Hegde RJ
J Indian Soc Pedod Prev Dent 2011 Apr-Jun;29(2):168-70. doi: 10.4103/0970-4388.84693. PMID: 21911959

Prognosis

Singh S, Ali MJ
Ophthalmic Plast Reconstr Surg 2023 Jan-Feb 01;39(1):88-91. Epub 2022 Jul 13 doi: 10.1097/IOP.0000000000002242. PMID: 35829659
Choi YM, Jang Y, Kim N, Choung HK, Khwarg SI
Eur J Ophthalmol 2022 Jan;32(1):108-114. Epub 2021 Feb 12 doi: 10.1177/1120672121994721. PMID: 33579164
Palo M, Gupta S, Naik MN, Ali MJ
J Pediatr Ophthalmol Strabismus 2018 Jul 1;55(4):266-268. Epub 2018 May 1 doi: 10.3928/01913913-20180213-03. PMID: 29709044
Mathrawala NR, Hegde RJ
J Indian Soc Pedod Prev Dent 2011 Apr-Jun;29(2):168-70. doi: 10.4103/0970-4388.84693. PMID: 21911959
Lelli GJ Jr, Maher EA, Milite JP, Dyleski R
Ophthalmic Plast Reconstr Surg 2008 Nov-Dec;24(6):499-501. doi: 10.1097/IOP.0b013e31818b6e57. PMID: 19033859

Clinical prediction guides

Singh S, Ali MJ
Ophthalmic Plast Reconstr Surg 2023 Jan-Feb 01;39(1):88-91. Epub 2022 Jul 13 doi: 10.1097/IOP.0000000000002242. PMID: 35829659
Custer PL, Ho TC, Boulos F
Ophthalmic Plast Reconstr Surg 2023 Jan-Feb 01;39(1):58-63. Epub 2022 Jul 4 doi: 10.1097/IOP.0000000000002241. PMID: 35793665
Schittkowski MP, Leha A, Horn M, Naxer S
Klin Monbl Augenheilkd 2022 Jan;239(1):57-63. Epub 2022 Feb 4 doi: 10.1055/a-1721-2375. PMID: 35120378
Choi YM, Jang Y, Kim N, Choung HK, Khwarg SI
Eur J Ophthalmol 2022 Jan;32(1):108-114. Epub 2021 Feb 12 doi: 10.1177/1120672121994721. PMID: 33579164
Yuen SJ, Oley C, Sullivan TJ
Ophthalmology 2004 Sep;111(9):1782-90. doi: 10.1016/j.ophtha.2004.02.011. PMID: 15350337

Recent systematic reviews

Bzdega K, Karolak JA
PeerJ 2022;10:e14003. Epub 2022 Sep 14 doi: 10.7717/peerj.14003. PMID: 36124135Free PMC Article
Xiang Q, Gao X, Chen X, Qi J, Fang J
J Pediatr Ophthalmol Strabismus 2019 Nov 1;56(6):365-372. doi: 10.3928/01913913-20190923-04. PMID: 31743404

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