scholarly journals Obstructed tear duct causes epiphora and precocious eyelid opening due to disruption of Prickle 1-mediated Wnt/PCP signaling

2020 ◽  
Author(s):  
Dianlei Guo ◽  
Jiali Ru ◽  
Jiaying Fan ◽  
Rong Ju ◽  
Kangxin Jin ◽  
...  

AbstractThe tear drainage apparatus evolved in terrestrial animals serving as conduits for tear flow. Obstruction of tear drainage causes a range of ocular surface disorders. Hitherto, genetics of tear duct development and obstruction has been scarcely explored. Here we report that a severe Prickle 1 hypomorph mouse line exhibited epiphora. This phenotype was due to blockage of the tear drainage by the incompletely formed nasolacrimal duct (NLD) and lacrimal canaliculi (CL). Further analysis revealed that the precocious eyelid opening, previously observed in the same type of Prickle 1 mutants, is also caused by tear duct dysplasia. A comparison of wild type, the Prickle 1 hypomorph and null mutants revealed a dose-dependent requirement of Prickle 1 for tear duct outgrowth. As a key component of a set of six Wnt/PCP core proteins, Prickle 1 usually works together with other PCP components. An investigation of expression of Wnt/PCP core genes demonstrated three of the six PCP components in tear duct, supporting the notion of context-dependent organization of PCP protein complexes. Furthermore, expression of Fgfr2/Fgf10 and p63 genes, mutations of which are associated with NLD and CL hypoplasia in human, were not altered in Prickle 1 mutant mice. Lastly, we showed that Prickle 1 expression in developing tear drainage system is conserved between mouse and human despite anatomical differences. Altogether, the study uncovered how obstruction of the tear drainage could lead to a complex ocular surface disorder, which may have genetic implications in human ocular health.

1990 ◽  
Vol 10 (9) ◽  
pp. 4480-4485
Author(s):  
J Andersen ◽  
R J Feeney ◽  
G W Zieve

The addition of urea to sodium dodecyl sulfate (SDS)-polyacrylamide gels has allowed the identification and characterization of the small nuclear ribonucleoprotein particle (snRNP) D' protein and has also improved resolution of the E, F, and G snRNP core proteins. In standard SDS-polyacrylamide gels, the D' and D snRNP core proteins comigrate at approximately 16 kilodaltons. The addition of urea to the separating gel caused the D' protein to shift to a slower electrophoretic mobility that is distinct from that of the D protein. The shift to a slower electrophoretic mobility in the presence of urea suggests that the D' protein has extensive secondary structure that is not totally disrupted by SDS alone. Both N-terminal sequencing and partial peptide maps indicate that the D and D' proteins are distinct gene products, and the sequence data have identified the faster moving of the two proteins as the previously cloned D protein (L. A. Rokeach, J. A. Haselby, and S. O. Hoch, Proc. Natl. Acad. Sci. USA 85:4832-4836, 1988). In the cytoplasm, the D protein is found primarily in the small-nuclear-RNA-free 6S protein complexes, while the D' protein is found primarily in the 20S protein complexes. Like the D protein, the D' protein is an autoantigen in patients with systemic lupus erythematosus and is recognized by some of the Sm class of autoimmune antisera.


2020 ◽  
pp. 014556132095049
Author(s):  
Samih J. Nassif ◽  
Devin Ruiz ◽  
Alison Callahan ◽  
Elie E. Rebeiz

Lacrimal drainage system disorders leading to epiphora are a common ophthalmologic complaint. When such a patient is identified, the ophthalmologist frequently collaborates with the otolaryngologist to perform a dacryocystorhinostomy (DCR). In rare cases, sinonasal sarcoidosis may lead to nasolacrimal duct obstruction (NLD) and dacryocystitis. A 48-year-old Caucasian female was referred to the Otolaryngology clinic for evaluation of a 6-month history of persistent right-sided nasal obstruction and epiphora. After physical examination and computerized tomography (CT) scan, she was diagnosed with right NLD with dacryocystitis. The patient underwent right endoscopic DCR. Pathology from the lacrimal bone and nasal tissue demonstrated noncaseating granulomas suggestive of sarcoidosis. Postoperative evaluation including lung CT scan confirmed systemic sarcoidosis. Nasolacrimal duct obstruction very rarely is the presenting symptom in patients with sarcoidosis. Imaging is necessary to rule out other causes of NLD, and histopathology is essential for diagnosis. Noncaseating granulomas are found along the nasal tissue and lacrimal sac, specifically in the subepithelial layer. Treatment consists of DCR, either endoscopic or external. Both approaches achieve long-lasting resolution of symptoms but may require revision from inflammation and scarring. There is no consensus on the use of intraoperative or postoperative steroids.


Author(s):  
R. K. L. N. Raju Dantuluri

Background: Endoscopic dacryocystorhinostomy (Endo DCR) is a well-established surgical treatment for nasolacrimal duct obstruction (NLDO) cases. Advances in surgical technique and a better understanding of the anatomy have resulted in improvement of the success rate. The objective of this study is to assess the factors responsible for the recurrence of nasolacrimal system obstruction by evaluating the post-operative outcomes of Endo DCR at a tertiary health care centre.Methods: A retrospective study was conducted in the department of ENT, GVP IHC and MT, Visakhapatnam – Andhra Pradesh on 52 patients who underwent Endo DCR procedure from September 2018 to September 2021. The data regarding lacrimal drainage system, operative details, surgical outcomes and complications were analysed.Results: Fifty-two patients (18 male and 34 female) underwent 63 Endo DCR surgeries for NLDO. Success was achieved in 50 cases (79.4%), and failure in 13 (20.6%). Of the 13 failed cases, anatomical obstruction at the fistula site was found in 6 (46.2% of failed cases), whereas functional failure with no evidence of obstruction was found in 7 (53.8%).Conclusions: The success rate appears to be influenced by preoperative parameters like clinical as well as radiological examination of eye and nose; ruling out intraoperative conditions like sinusitis, deviated nasal septum, polyps. These are essential for better coordinating therapeutic expectations and better patient selection. Endo DCR proved to be a safe invasive procedure as it has direct approach to the sac and produced excellent results without any external scar.


Author(s):  
Praveena Kher ◽  
Jigna Motwani

Congenital lacrimal fistulas are rare epithelium-lined tracts that tend to have a direct communication between skin and the lacrimal drainage system. These are benign developmental abnormalities, that may require no treatment. This is a rare diagnosis since patients are usually asymptomatic and presents only when epiphora is associated. When symptomatic, congenital lacrimal fistula presents as epiphora, or mucoid discharge, rarely patients could develop nasolacrimal duct obstruction, which may present as recurrent dacryocystitis. Thorough clinical examination is the best way to diagnose the condition, where a fistula ostium may be found inferonasal to medial canthus of the eye. Further, lacrimal probing and irrigation is helpful. Surgical management of the fistula is advised only if the disease is symptomatic which ranges from simple excision to dacryocystorhinostomy. This is a report of one such patient with congenital lacrimal fistula which was treated surgically by fistulectomy.


2020 ◽  
Vol 24 (1) ◽  
pp. 79-84
Author(s):  
Utpal Kumar Kundu ◽  
Mahmudul Hasan ◽  
Utpal Kumar Datta ◽  
Md Joynal Abedin ◽  
Md Oli Ullah ◽  
...  

Background and Objectives: Endoscopic laser dacryocystorhinostomy(DCR) is now a well established, effective approach to relieve nasolacrimal duct obstruction.The aim of DCR surgery is to create a permanent opening between the lacrimal sac & nasal mucosa in patient of chronic dacryocistitis. There are many methods to perform DCR but our approach was diode laser assisted endoscopic DCR. The Objective is to study the outcomes of diode laser assisted endoscopic DCR. Material and Methods: This hospital based prospective non-randomized interventional clinical trial included 49 patients with chronic dacryocystitisat National Institute of ENTbetween august 2015 to July 2016. Success and complications were assessed by evaluating the patient at 1 week, 1 month, 3 month,6 month postoperatively and at least 3 month after removal of silicon tube those who were intubated by nasal endoscopy and sac patency test. Success was defined as absence of epiphora and patency of lacrimal drainage system. Results: Mean age with SD was 44.96 ±15.807 (Range 13 – 70 years). Patients between age group 40 – 60 yrs. was the highest (40.8%), Female were predominant 35 (71.4%) than male. Male Female Ratio was 1: 2.5. Septoplasty for DNS in 8 (16.33%) cases, turbinoplastyfor hypertrophied terbinatein 1 case were performed. Complications were injury to middle turbinate, sump syndrome, syneachia and granulation tissue formation. Overall success rate of DCR was seen in 87.76% cases. Conclusion: Laserassisted endoscopic DCR surgery eliminate the need of conventional external DCR. It is easy to perform, cosmetically good, high tech and has excellent outcome. Bangladesh J Otorhinolaryngol; April 2018; 24(1): 79-84


Author(s):  
John V. Linberg

The common complaint of a watering eye may be caused by a variety of problems, including lacrimal hyposecretion, lacrimal hypersecretion, or blockage of the lacrimal drainage system. This system is a complex membranous channel whose function depends on the interaction of anatomy and physiology. Effective tear drainage depends on a variety of factors, including the volume of tear secretion, eyelid position, and anatomy of the lacrimal drainage passages. Epiphora is defined as an abnormal overflow of tears down the cheek. The patient with symptomatic tearing may have a normal lacrimal drainage system overwhelmed by primary or secondary (reflex) hypersecretion or a drainage system that is anatomically compromised and unable to handle normal tear production. On the other hand, a patient with partial drainage obstruction may have a concomitant reduction in tear production and therefore be completely asymptomatic or may even suffer from symptomatic dry eye syndrome. Epiphora is determined by the balance between tear production and tear drainage, not by the absolute function or dysfunction of either one. The causes of lacrimal drainage problems can be divided into two categories: anatomic and functional. Anatomic obstruction refers to a mechanical or structural abnormality of the drainage system. The obstruction may be complete, such as punctal occlusion, canalicular blockage, or nasolacrimal duct fibrosis, or partial, caused by punctal stenosis, canalicular stenosis, or mechanical obstruction within the lacrimal sac (i.e., dacryolith or tumor). In patients with functional obstruction, epiphora results not from anatomic blockage but from a failure of lacrimal drainage physiology. This failure may be caused by anatomic deformity such as punctal eversion or other eyelid malpositions, but can also result from lacrimal pump inadequacy caused by weak orbicularis muscle action. It is helpful to determine whether the patient’s complaint is true epiphora or a “watery eye.” Detailed history-taking and careful examination will help direct the evaluation of a tearing eye. A host of clinical tests have been described, and the selection of appropriate tests will depend on the initial history and ophthalmic examination. 13-1-1 History-Taking. Any clinical evaluation should begin with a thorough history. A complaint of watery eye does not necessarily imply a lacrimal drainage problem.


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