LCDD
MCID: LCR013
MIFTS: 41

Lacrimal Duct Defect (LCDD)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Smell/Taste diseases
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Aliases & Classifications for Lacrimal Duct Defect

MalaCards integrated aliases for Lacrimal Duct Defect:

Name: Lacrimal Duct Defect 57 73 38
Nasolacrimal Duct Obstruction 57 73 5 33
Familial Congenital Nasolacrimal Duct Obstruction 58 28 5
Lcdd 57 73
Lacrimal Puncta, Absence of 57
Lacrimal Duct Obstruction 73

Characteristics:


Inheritance:

Lacrimal Duct Defect: Autosomal recessive 57
Familial Congenital Nasolacrimal Duct Obstruction: Autosomal recessive 58

Prevelance:

Familial Congenital Nasolacrimal Duct Obstruction: <1/1000000 (Worldwide) 58

Age Of Onset:

Familial Congenital Nasolacrimal Duct Obstruction: Antenatal,Neonatal 58

Classifications:

Orphanet: 58  
Rare eye diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 149700
MeSH 43 D007767
ICD10 via Orphanet 32 Q10.5
Orphanet 58 ORPHA451612
MedGen 40 C1835612
ICD11 33 729476309

Summaries for Lacrimal Duct Defect

OMIM®: 57 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). (149700) (Updated 08-Dec-2022)

MalaCards based summary: Lacrimal Duct Defect, also known as nasolacrimal duct obstruction, is related to light chain deposition disease and dacryocystitis. An important gene associated with Lacrimal Duct Defect is IGSF3 (Immunoglobulin Superfamily Member 3). The drugs Silicon and Lactitol have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and thyroid, and related phenotypes are sinusitis and periorbital edema

Orphanet: 58 A rare, genetic, otorhinolaryngological malformation characterized by congenital impatency of the nasolacrimal draingage system in various members of a family. Presentation is not specific and may include a uni- or bilateral medial canthal mass, dacryocystitis, nasal obstruction, periorbital cellulitis, and epiphora. Dacryocystocele and lacrimal puncta agenesis may be associated.

UniProtKB/Swiss-Prot: 73 A condition resulting in the imbalance between tear production and tear drainage. Infants typically manifest persistent epiphora and/or recurrent infections of the lacrimal pathway, such as conjunctivitis. LCDD is caused by failure of the nasolacrimal duct to open into the inferior meatus.

Related Diseases for Lacrimal Duct Defect

Diseases related to Lacrimal Duct Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 189)
# Related Disease Score Top Affiliating Genes
1 light chain deposition disease 11.6
2 dacryocystitis 11.6
3 growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction 11.5
4 blepharonasofacial malformation syndrome 11.4
5 dacryocystocele 11.3
6 branchiooculofacial syndrome 11.3
7 hypertelorism, preauricular sinus, punctal pits, and deafness 11.2
8 excessive tearing 11.2
9 strabismus 10.8
10 chronic dacryocystitis 10.7
11 amblyopia 10.7
12 acute dacryocystitis 10.7
13 down syndrome 10.6
14 anisometropia 10.6
15 refractive error 10.6
16 conjunctivitis 10.6
17 cycloplegia 10.6
18 thyroid carcinoma 10.6
19 farsightedness 10.5
20 spastic ataxia, charlevoix-saguenay type 10.5
21 astigmatism 10.5
22 sarcoidosis 1 10.5
23 sarcoidosis 2 10.5
24 lacrimal duct obstruction 10.5
25 cellulitis 10.4
26 rhinitis 10.4
27 chronic rhinitis 10.4
28 ethmoid sinusitis 10.4
29 nasolacrimal duct cyst 10.4
30 gastroesophageal reflux 10.4
31 thyroid cancer, nonmedullary, 1 10.4
32 allergic rhinitis 10.4
33 ptosis 10.4
34 myopia 10.4
35 maxillary sinusitis 10.4
36 cataract 10.4
37 blepharitis 10.4
38 47 xxx syndrome 10.4
39 hemifacial hyperplasia 10.3
40 keratitis, hereditary 10.3
41 entropion 10.3
42 papilloma 10.3
43 eye disease 10.3
44 actinomycosis 10.3
45 blepharophimosis, ptosis, and epicanthus inversus 10.2
46 epicanthus 10.2
47 glaucoma, primary open angle 10.2
48 leukemia, chronic lymphocytic 10.2
49 otitis media 10.2
50 charge syndrome 10.2

Graphical network of the top 20 diseases related to Lacrimal Duct Defect:



Diseases related to Lacrimal Duct Defect

Symptoms & Phenotypes for Lacrimal Duct Defect

Human phenotypes related to Lacrimal Duct Defect:

30 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sinusitis 30 Occasional (7.5%) HP:0000246
2 periorbital edema 30 Occasional (7.5%) HP:0100539
3 conjunctivitis 30 Occasional (7.5%) HP:0000509
4 dacryocystitis 30 Occasional (7.5%) HP:0000620
5 epiphora 30 Very rare (1%) HP:0009926
6 lacrimal duct atresia 30 HP:0000564
7 dacryocystocele 30 HP:0030752

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
epiphora
dacryocystocele
imperforate nasolacrimal ducts
absent puncta
absent canaliculi
more
Head And Neck Nose:
intranasal cystic mass (in some patients)

Head And Neck Head:
sinusitis (in some patients)

Clinical features from OMIM®:

149700 (Updated 08-Dec-2022)

Drugs & Therapeutics for Lacrimal Duct Defect

Drugs for Lacrimal Duct Defect (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 59)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Silicon Approved, Investigational Phase 2, Phase 3 7440-21-3 4082203
2
Lactitol Approved, Investigational Phase 3 585-86-4 157355
3
Tobramycin Approved, Investigational Phase 3 32986-56-4 36294
4 Anti-Bacterial Agents Phase 3
5 Ophthalmic Solutions Phase 3
6 Antibiotics, Antitubercular Phase 3
7
Racephedrine Approved, Experimental Phase 1, Phase 2 299-42-3, 90-82-4, 90-81-3 5032 9294 7028
8
Lidocaine Approved, Vet_approved Phase 1, Phase 2 137-58-6 3676
9
Tetracaine Approved, Vet_approved Phase 1, Phase 2 94-24-6 5411
10
Besifloxacin Approved Phase 1 141388-76-3 22743624 10178705
11
Polymyxin B Approved, Vet_approved Phase 1 1405-20-5, 1404-26-8 4868
12
Levoleucovorin Approved, Experimental, Investigational Phase 1 68538-85-2, 58-05-9, 73951-54-9 149436 6006
13
Trimethoprim Approved, Vet_approved Phase 1 738-70-5 5578
14
Folic acid Approved, Nutraceutical, Vet_approved Phase 1 59-30-3 6037
15 Folic Acid Antagonists Phase 1
16 Folate Phase 1
17 Vitamin B9 Phase 1
18 Anti-Infective Agents Phase 1
19 Antiprotozoal Agents Phase 1
20 Antiparasitic Agents Phase 1
21 Fluoroquinolones Phase 1
22 Vitamin B Complex Phase 1
23 Antimalarials Phase 1
24 Polymyxins Phase 1
25 Pharmaceutical Solutions Phase 1
26 Cytochrome P-450 Enzyme Inhibitors Phase 1
27
Mitomycin Approved 50-07-7 5746
28
Racepinephrine Approved, Vet_approved 51-43-4, 329-65-7 838 5816
29
Bupivacaine Approved, Investigational 2180-92-9, 38396-39-3 2474
30
Atracurium Approved, Experimental, Investigational 64228-79-1 47319
31
Acetaminophen Approved 103-90-2 1983
32
Nitroglycerin Approved, Investigational 55-63-0 4510
33
Sevoflurane Approved, Vet_approved 28523-86-6 5206
34
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
35
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
36
Tannic acid Approved 1401-55-4 16129878 16129778
37
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
38
Diethyl ether Experimental 60-29-7 3283
39 Alkylating Agents
40 Anesthetics
41 Analgesics
42 Neurotransmitter Agents
43 Antipyretics
44 Neuromuscular Nondepolarizing Agents
45 Neuromuscular Blocking Agents
46 Epinephryl borate
47 Antihypertensive Agents
48 Vasodilator Agents
49 Anesthetics, Local
50 Platelet Aggregation Inhibitors

Interventional clinical trials:

(show all 25)
# Name Status NCT ID Phase Drugs
1 A Randomised Controlled Trial to Compare Success and Complication Rates in Endonasal Dacryocystorhinostomy Surgery With and Without Silicone Tubes Completed NCT00784992 Phase 4
2 Recanalization of Congenital Nasolacrimal Duct Obstruction by Endodiathermy Probe and Intubation Versus Intubation Only Unknown status NCT04148170 Phase 2, Phase 3
3 A Randomized Trial Comparing Immediate Probing in an Office Setting With Deferred Probing in a Facility Setting for Treatment of Nasolacrimal Duct Obstruction in Children 6 to <10 Months Old Completed NCT00780741 Phase 3
4 Monocanalicular Versus Bicanalicular Intubation in the Treatment of Congenital Nasolacrimal Duct Obstruction Completed NCT01233596 Phase 3
5 Euphrasia Eye Drops in Preterm Infants With First Signs of Congestion of Nasolacrimal Duct - a Randomized Double-blind Controlled Trial Completed NCT04122300 Phase 3 Euphrasia Officinalis Preparation;Placebo
6 A Comparative Study of Recessive Spherical Headed Silicone Intubation and Dacryocystorhinostomy Under Nasal Endoscopy in the Treatment of Nasolacrimal Duct Obstruction Completed NCT02636257 Phase 1, Phase 2
7 A Prospective, Double-Blinded, Parallel-Group, Randomized Study to Assess the Safety and Efficacy of Besivance™ for Treatment of Congenital Nasolacrimal Duct Obstruction in Children Completed NCT01431170 Phase 1 Besivance Treatment Group;Polytrim Treatment Group
8 Endoscopy Assisted Probing Versus Simple Probing in Patients With Primary Congenital Nasolacrimal Duct Obstruction: A Randomized Clinical Trial Unknown status NCT03242681
9 To Estimate Whether Corneal Epithelial Defects Occur in Patients With Acquired Nasolacrimal Duct Obstructions is Linked to Changes Occurring Within Ocular Bacterial Flora in These Patients, and What Are the Specific Changes in Their Flora. Unknown status NCT02234700
10 Recovery After Endoscopic Dacryocystorhinostomy Unknown status NCT00571129
11 Self-retaining Bicanalicular Intubation Stent Versus Bicanalicular Silicone Tube for Management of Canalicular Obstruction Unknown status NCT04706117
12 Case Control Study of the Factors That Affected the Outcome of Treatment of Congenital Nasolacrimal Duct Obstruction Completed NCT02081781
13 External Dacryocystorhinostomy Versus Canalicular Silicone Intubation With Mitomycin C in Primary Acquired Nasolacrimal Duct Obstruction Completed NCT03780868
14 A Prospective Study of Surgical Procedures for the Treatment of Persistent Nasolacrimal Duct Obstruction in Children Less Than Four Years Old Completed NCT00315315
15 A Prospective Study of Primary Surgical Treatment of Nasolacrimal Duct Obstruction in Children Less Than Four Years Old Completed NCT00315289
16 Effect of Counseling and Reminders in Improving the Follow-up Rate of Pediatric Patients (0-16 Years) at Bharatpur Eye Hospital, Nepal: an Intervention Study Completed NCT04837534
17 Lacrimal Drainage Resistance Study Completed NCT01766232
18 Risk and Importance of Peroperative Nasal Hemorrhage in the Treatment of Lacrimal Duct Obstruction in Young Children Completed NCT02851641
19 Retrospective Data Analysis of Patients Undergoing Lacrimal Drainage System Interventions at The Department of Ophthalmology and Optometry During The Years 2013 - 2017 Completed NCT04931186
20 A Study to Develop a Protocol for Functional Magnetic Resonance Imaging of the Lacrimal Drainage System Completed NCT03411889
21 Long Term Effectiveness of Dacryocystorinostomy With and Without Bicanalicular Intubation Completed NCT03960996
22 Lacrimal Sac Dacryoliths (86 Samples): Chemical and Mineralogic Analyses Completed NCT01826734
23 Safety and Efficacy of the Slit Stent II Lacrimal Stent for the Treatment of Nasolacrimal Duct Obstruction Recruiting NCT03705000
24 Multi-center Clinical Study of Low Temperature Plasma Ablation Combined With Lacrimal Duct Catheterization in the Treatment of Lacrimal Duct Obstructive Diseases Recruiting NCT04943055
25 Comparison of Local Anesthesia and Induced Hypotensive Anesthesia on Quality of External Dacryocystorhinostomy Operation Under General Anesthesia Not yet recruiting NCT05241054 Bupivacaine;Nitroglycerine;Propofol;Fentanyl;Atracurium Besylate;Sevoflurane;Lactated Ringers;Paracetamol

Search NIH Clinical Center for Lacrimal Duct Defect

Genetic Tests for Lacrimal Duct Defect

Genetic tests related to Lacrimal Duct Defect:

# Genetic test Affiliating Genes
1 Familial Congenital Nasolacrimal Duct Obstruction 28 IGSF3

Anatomical Context for Lacrimal Duct Defect

Organs/tissues related to Lacrimal Duct Defect:

MalaCards : Eye, Kidney, Thyroid, Liver, Bone, Salivary Gland, Lung

Publications for Lacrimal Duct Defect

Articles related to Lacrimal Duct Defect:

(show top 50) (show all 1806)
# Title Authors PMID Year
1
Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction. 62 57 5
24372406 2014
2
Congenital dacryocystocele: is there a familial predisposition? 62 57
21185090 2011
3
Prevalence and clinical characteristics of congenital dacryocystocele. 57
21035068 2010
4
Surgical treatment of familial dacryocystocele and lacrimal puncta agenesis. 57
19273928 2009
5
[On a case of congenital atresia of the lacrimal ducts with familial characteristics]. 57
14418873 1960
6
Accuracy of the International Classification of Diseases, 9th Revision for Identifying Infantile Eye Disease. 62
34821545 2022
7
Is dacryocystectomy effective in reducing epiphora? 62
36453356 2022
8
Outcomes Associated with Indwelling Momentary Probe for Congenital Nasolacrimal Duct Obstruction Treatment. 62
36474379 2022
9
Demographic profile of patients seeking teleophthalmology consultations through e-Sanjeevani: Retrospective analysis of 5138 patients from North India. 62
36453323 2022
10
Endocanalicular Laser Dacryocystorhinostomy and its modifications: A systematic review of techniques and success rates. 62
35879174 2022
11
Modified Endoscopic Dacryocystorhinostomy: A Clubhead-Shaped Nasal Mucoperiosteal Flap Technique. 62
35837882 2022
12
Functional Versus Anatomical Nasolacrimal Obstruction: Are There Differences in Epiphora Severity, Symptoms, or Effects on Quality of Life? 62
35502798 2022
13
Evaluation of lacrimal drainage system in Pseudoexfoliation syndrome. 62
34645960 2022
14
Regurgitation on pressure over the lacrimal sac versus lacrimal irrigation in determining lacrimal obstruction prior to intraocular surgeries. 62
36308105 2022
15
Non-contrast MR dacryocystography for the evaluation of epiphora and recurrent dacryocystitis: A preliminary study. 62
36404757 2022
16
Anatomic characteristics of primary acquired nasolacrimal duct obstruction: a comparative computed tomography study. 62
36330196 2022
17
Assessment of Lacrijet monocanalicular intubation for congenital nasolacrimal duct obstruction. 62
35102761 2022
18
Effect of age on primary balloon dacryocystoplasty and probing success in congenital nasolacrimal duct obstruction. 62
35598226 2022
19
[Effect of endonasal endoscopic dacryocystorhinostomy combined with lacrimal duct drainage tube implantation in treating lacrimal duct obstruction]. 62
36347577 2022
20
Ocular manifestations of ANCA-associated vasculitis. 62
36440847 2022
21
Light chain deposition disease masquerading as smoking-associated nodular glomerulosclerosis with deposits identified by electron microscopy only. 62
35316527 2022
22
Commentary: Rule out lacrimal duct obstruction before every intraocular procedure. 62
36308106 2022
23
Endoscopic dacryocystorhinostomy for refractory nasolacrimal duct obstruction with a small lacrimal sac (≤ 5 mm in diameter). 62
35320400 2022
24
Nasolacrimal Duct Obstruction on 131I SPECT/CT: Atypical False-positive Paranasal Radioiodine Uptake as a Complication of Single-dose RAI Treatment. 62
36268911 2022
25
Lacrimal drainage anomalies in Pierre Robin sequence. 62
36305558 2022
26
Clinical Trial to Compare Success Rate of Endonasal Dacryocystorhinostomy and External Dacryocystorhinostomy for Treatment of Primary Acquired Nasolacrimal Duct Obstruction. 62
36452658 2022
27
Endonasal Endoscopic Dacryocystorhinostomy with and Without Stents-A Comparative Study. 62
36452760 2022
28
Changes in Tears Monocyte Chemoattractant Protein-1 Level After External Dacryocystorhinostomy in Primary Acquired Nasolacrimal Duct Obstruction. 62
35882040 2022
29
Is Stenting Really Necessary in Primary Endonasal DCR-Our Experience. 62
36452615 2022
30
Lacrimal Sac Anterior Border-Maxillary Line Distance: Effect on Endoscopic Dacryocystorhinostomy (EDCR) Surgery Results and NLDO-SS Questionnaire. 62
36452709 2022
31
Effect of Topical 5-Fluorouracil on Lacrimal Drainage System: Histopathological Evidence From Animal Experiments and Potential Clinical Implications. 62
36356188 2022
32
Fungal microbiome (mycobiome) and virome of the lacrimal sac in patients with PANDO: the lacriome paper 5. 62
36270766 2022
33
A randomized control trial on the role of tranexamic acid in preventing intraoperative bleeding during external dacryocystorhinostomy. 62
36190062 2022
34
Dacryoendoscopic findings in the failed silicone tube intubations without dacryoendoscopy. 62
36220637 2022
35
Does Bicanalicular Intubation Improve the Outcome of Endoscopic Dacryocystorhinostomy? 62
36143042 2022
36
Eyelid Blink Lagophthalmos and Blinking Velocity Changes After External Transcutaneous Dacrocystorhinostomy: A Prospective Study. 62
36084687 2022
37
Co-existing lacrimal drainage anomalies in eyes with congenital Glaucoma. 62
35018871 2022
38
Antineutrophil Cytoplasmic Antibody-Associated Vasculitis With Immunoglobulin G4 Involvement in Lacrimal Sac Squamous Cell Carcinoma. 62
35551408 2022
39
Reduced tear break-up time in the fellow eye of patients with unilateral primary acquired nasolacrimal duct obstruction. 62
36053478 2022
40
Nasal endoscopy-guided primary nasolacrimal duct intubation for congenital nasolacrimal duct obstruction in children older than 4 years. 62
36053476 2022
41
A rare complication of hemolacria after Le fort I osteotomy: a case presentation. 62
36115900 2022
42
Quantitative analysis of both lacrimal glands in unilateral primary acquired nasolacrimal duct obstruction, based on three-dimensional fast spin echo-Cube-Flex. 62
36108476 2022
43
Primary Monocanalicular Stent Intubation for Children With Congenital Nasolacrimal Duct Obstruction: Surgical Outcome and Risk Factors. 62
35502807 2022
44
Liquid-based thin-prep cytology study of lacrimal drainage system in primary acquired nasolacrimal duct obstruction. 62
35471740 2022
45
Spontaneous resolution rates in congenital nasolacrimal duct obstruction managed with massage or topical antibiotics compared with observation alone. 62
33731363 2022
46
Corneal ulcers with non-infectious appearance caused by nasolacrimal duct obstruction or canaliculitis. 62
35856006 2022
47
Long-term prognosis of monoclonal immunoglobulin-associated glomerular diseases with non-organized deposits: A report of 38 cases from a Japanese single center. 62
35818814 2022
48
Treatment of Light Chain Deposition Disease: A Systematic Review. 62
36118549 2022
49
Outcomes of intubation and endoscopic DCR in functional nasolacrimal duct obstruction. 62
35475433 2022
50
Assessment of Perinatal Clinical Characteristics, Perinatal Risk Factors, and Microbial Profile in Congenital Nasolacrimal Duct Obstruction in a Tertiary Care Center: A Descriptive Study. 62
35959546 2022

Variations for Lacrimal Duct Defect

ClinVar genetic disease variations for Lacrimal Duct Defect:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IGSF3 NM_001007237.3(IGSF3):c.2935del (p.Arg979fs) DEL Pathogenic
162496 rs724160030 GRCh37: 1:117122413-117122413
GRCh38: 1:116579791-116579791

Expression for Lacrimal Duct Defect

Search GEO for disease gene expression data for Lacrimal Duct Defect.

Pathways for Lacrimal Duct Defect

GO Terms for Lacrimal Duct Defect

Sources for Lacrimal Duct Defect

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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