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Hypoplasia of the lacrimal punctum

MedGen UID:
867206
Concept ID:
C4021564
Anatomical Abnormality
Synonym: Lacrimal puncta hypoplasia
 
HPO: HP:0007892

Definition

Underdevelopment of the lacrimal puncta. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypoplasia of the lacrimal punctum

Conditions with this feature

Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
MedGen UID:
1679397
Concept ID:
C5193085
Disease or Syndrome
Myoectodermal gonadal dysgenesis syndrome (MEGD) is characterized by 46,XY complete or partial gonadal dysgenesis, or 46,XX gonadal dysgenesis, in association with extragonadal anomalies, including low birth weight, typical facies, rod and cone dystrophy, sensorineural hearing loss, omphalocele, anal atresia, renal agenesis, skeletal abnormalities, dry and scaly skin, severe myopathy, and neuromotor delay. Dysmorphic facial features along with muscular habitus are the hallmarks of the syndrome. Abnormal hair patterning with frontal upsweep and additional whorls, eyebrow abnormalities comprising broad, arched, and sparse or thick eyebrows, underdeveloped alae nasi, smooth philtrum, and low-set ears with overfolded helices facilitate a gestalt diagnosis. (Guran et al., 2019; Altunoglu et al., 2022).
LADD syndrome 1
MedGen UID:
1824096
Concept ID:
C5774323
Disease or Syndrome
Lacrimoauriculodentodigital syndrome-1 (LADD1) is a multiple congenital anomaly disorder mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments (summary by Rohmann et al., 2006). Genetic Heterogeneity of Lacrimoauriculodentodigital Syndrome LADD syndrome-2 (LADD2; 620192) is caused by mutation in the FGFR3 gene (134934) on chromosome 4p16, and LADD syndrome-3 (LADD3; 620193) is caused by mutation in the FGF10 gene, an FGFR ligand, on chromosome 5p12.

Professional guidelines

PubMed

Saini P, Bothra N, Ali MJ
Ophthalmic Plast Reconstr Surg 2022 Mar-Apr 01;38(2):151-153. doi: 10.1097/IOP.0000000000002011. PMID: 34284426
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
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
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
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
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
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
Odat TA, Odat HA, Khraisat H, Odat MA, Alzoubi FQ
Int Ophthalmol 2015 Jun;35(3):375-9. Epub 2014 Jun 7 doi: 10.1007/s10792-014-9957-1. PMID: 24906865
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
Park Y, Hwang HB, Kim HS
PLoS One 2016;11(10):e0152460. Epub 2016 Oct 3 doi: 10.1371/journal.pone.0152460. PMID: 27695117Free PMC Article
Miller MT, Ventura L, Strömland K
Birth Defects Res A Clin Mol Teratol 2009 Aug;85(8):667-76. doi: 10.1002/bdra.20609. PMID: 19639653
Francis IC, Kappagoda MB, Cole IE, Bank L, Dunn GD
Ophthalmic Plast Reconstr Surg 1999 May;15(3):217-26. doi: 10.1097/00002341-199905000-00013. PMID: 10355842

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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