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Familial congenital nasolacrimal duct obstruction(LCDD)

MedGen UID:
332018
Concept ID:
C1835612
Finding
Synonyms: Lacrimal duct defect; Lacrimal puncta, absence of
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): IGSF3 (1p13.1)
 
Monarch Initiative: MONDO:0007871
OMIM®: 149700
Orphanet: ORPHA451612

Definition

Congenital nasolacrimal drainage system impatency is relatively common, occurring in approximately 20% of children within the first year of life. Such infants typically manifest persistent epiphora and/or recurrent infections of the lacrimal pathway such as conjunctivitis. The most frequent site of such obstruction occurs at the distal intranasal segment of the nasolacrimal drainage system at the valve of Hasner (summary by Wang and Cunningham, 2011). Congenital dacryocystocele, an uncommon variant of nasolacrimal duct obstruction, characterized by the appearance of a cystic blue mass over the area of the lacrimal duct soon after birth. Dacryocystoceles are thought to result from a persistent membrane at the valve of Hasner and a functional obstruction of the common canaliculus or valve of Rosenmuller. The resulting lacrimal sac distention has been reported to be more common in female and non-Hispanic white patients, and familial cases have been described only sporadically. Common presenting signs include dacryocystitis, facial cellulitis, and respiratory distress; the development of astigmatism in association with dacryocystocele has only rarely been observed (summary by Shekunov et al., 2010). [from OMIM]

Clinical features

From HPO
Conjunctivitis
MedGen UID:
1093
Concept ID:
C0009763
Disease or Syndrome
Inflammation of the conjunctiva.
Sinusitis
MedGen UID:
20772
Concept ID:
C0037199
Disease or Syndrome
Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.
Dacryocystitis
MedGen UID:
3686
Concept ID:
C0010930
Disease or Syndrome
Inflammation of the nasolacrimal sac.
Periorbital edema
MedGen UID:
56223
Concept ID:
C0151205
Pathologic Function
Edema affecting the region situated around the orbit of the eye.
Dacryocystocele
MedGen UID:
472901
Concept ID:
C0155241
Disease or Syndrome
A nasolacrimal duct obstruction presenting as a grey-blue cystic swelling just below the medial canthus. Believed to be a result of concomitant upper obstruction of the Rosenmuller valve and lower obstruction of the Hasner valve.
Lacrimal duct atresia
MedGen UID:
576318
Concept ID:
C0344511
Congenital Abnormality
A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct.
Epiphora
MedGen UID:
57518
Concept ID:
C0152227
Disease or Syndrome
Abnormally increased lacrimation, that is, excessive tearing (watering eye).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial congenital nasolacrimal duct obstruction

Recent clinical studies

Etiology

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
Alakus MF, Dag U, Balsak S, Erdem S, Oncul H, Akgol S, Diri H
Eur J Ophthalmol 2020 Nov;30(6):1228-1231. Epub 2019 Nov 19 doi: 10.1177/1120672119889522. PMID: 31744323
Whittington A, Stein S, Kenner-Bell B
Pediatr Dermatol 2016 Sep;33(5):e322-6. Epub 2016 Jul 28 doi: 10.1111/pde.12938. PMID: 27469932
Mohammad A
Dermatol Online J 2015 Jan 15;21(1) PMID: 25612123
Miller AM, Chandler DL, Repka MX, Hoover DL, Lee KA, Melia M, Rychwalski PJ, Silbert DI; Pediatric Eye Disease Investigator Group, Beck RW, Crouch ER 3rd, Donahue S, Holmes JM, Quinn GE, Sala NA, Schloff S, Wallace DK, Foster NC, Frick KD, Golden RP, Lambert SR, Tien DR, Weakley DR Jr
J AAPOS 2014 Feb;18(1):26-30. doi: 10.1016/j.jaapos.2013.10.016. PMID: 24568978Free PMC Article

Diagnosis

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
Alakus MF, Dag U, Balsak S, Erdem S, Oncul H, Akgol S, Diri H
Eur J Ophthalmol 2020 Nov;30(6):1228-1231. Epub 2019 Nov 19 doi: 10.1177/1120672119889522. PMID: 31744323
Singh S, Ali MJ, Naik MN
Ophthalmic Plast Reconstr Surg 2017 May/Jun;33(3):e66-e69. doi: 10.1097/IOP.0000000000000757. PMID: 27533514
Whittington A, Stein S, Kenner-Bell B
Pediatr Dermatol 2016 Sep;33(5):e322-6. Epub 2016 Jul 28 doi: 10.1111/pde.12938. PMID: 27469932
Mohammad A
Dermatol Online J 2015 Jan 15;21(1) PMID: 25612123

Therapy

Miller AM, Chandler DL, Repka MX, Hoover DL, Lee KA, Melia M, Rychwalski PJ, Silbert DI; Pediatric Eye Disease Investigator Group, Beck RW, Crouch ER 3rd, Donahue S, Holmes JM, Quinn GE, Sala NA, Schloff S, Wallace DK, Foster NC, Frick KD, Golden RP, Lambert SR, Tien DR, Weakley DR Jr
J AAPOS 2014 Feb;18(1):26-30. doi: 10.1016/j.jaapos.2013.10.016. PMID: 24568978Free PMC Article

Prognosis

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
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
Morrison DG, Binenbaum G, Chang MY, Heidary G, Trivedi RH, Galvin JA, Pineles SL
Ophthalmology 2021 Jun;128(6):920-927. Epub 2020 Dec 24 doi: 10.1016/j.ophtha.2020.10.028. PMID: 33358412
Whittington A, Stein S, Kenner-Bell B
Pediatr Dermatol 2016 Sep;33(5):e322-6. Epub 2016 Jul 28 doi: 10.1111/pde.12938. PMID: 27469932
David ML, Collins JW
Am Fam Physician 1984 Jan;29(1):213-8. PMID: 6695645

Clinical prediction guides

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
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
Morrison DG, Binenbaum G, Chang MY, Heidary G, Trivedi RH, Galvin JA, Pineles SL
Ophthalmology 2021 Jun;128(6):920-927. Epub 2020 Dec 24 doi: 10.1016/j.ophtha.2020.10.028. PMID: 33358412
Yuen SJ, Oley C, Sullivan TJ
Ophthalmology 2004 Sep;111(9):1782-90. doi: 10.1016/j.ophtha.2004.02.011. PMID: 15350337
Fujimoto A, Lipson M, Lacro RV, Shinno NW, Boelter WD, Jones KL, Wilson MG
Am J Med Genet 1987 Aug;27(4):943-51. doi: 10.1002/ajmg.1320270422. PMID: 3321995

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