Lacrimal Drainage Anomalies in Goldenhar, Rubinstein-Taybi, and Ectodermal-Ectrodactyly-Clefting Syndromes.

OBJECTIVE: To describe in detail the lacrimal drainage system anomalies and review of literature in patients with Goldenhar syndrome, Rubinstein-Taybi syndrome (RTS), and Ectodermal-Ectrodactyly-Clefting syndrome (EECS), their management and outcomes. METHODS: A retrospective chart review from January 2011-June 2023 of all cases presenting to the Dacryology clinic with Goldenhar syndrome, RTS, and EECS was obtained. Data collected included demographics, laterality, clinical presentations, proximal and distal lacrimal drainage anomalies, associated systemic features, management, and outcomes. RESULTS: Eight children with Goldenhar syndrome (n = 13), three with RTS (n = 5) and three with EECS (n = 5) presented with lacrimal drainage system involvement. Cases with Goldenhar syndrome showed male predominance (5/8), and the mean age at presentation was 14.75 months. Four cases had simple CNLDO, seven cases with complex CNLDO (4 - buried probe and 3 - atonic sacs) and a single neonate presented with bilateral dacryocele. Patients with RTS presented with mean age of 36.33 months with male predominance. Probing under endoscopic guidance explored the anatomy thoroughly and those with altered nasal anatomy increased the probability of complex CNLDO. Those with EECS (n = 5) presented with a greater involvement of proximal lacrimal drainage system compared with Goldenhar syndrome and RTS, including anomalies like punctal agenesis, incomplete punctal canalization (IPC), ectopic puncta, canalicular stenosis, and complex CNLDO. CONCLUSIONS: A step-wise approach to assessing the proximal and lacrimal drainage system in those affected with craniofacial malformations and addressing them can result in satisfactory outcomes for the majority of patients.

Geometric morphometric anatomy of the lacrimal punctum in normal population: Punctum update (PUP) study - Paper 5.

BACKGROUND: To investigate the geometric morphological differences of the lacrimal punctum by analyzing its shape in relation to age and sex in a normal population. METHODS: 960 high-magnification slit-lamp images were obtained from 320 puncta of normal asymptomatic Indian individuals across eight decades of life. Using advanced geometric morphometric techniques, including Elliptic Fourier Analysis and Principal Component Analysis, the intricate details of the lacrimal punctum's shape in a diverse population sample were categorized by age and sex. High-resolution images of the lacrimal punctum underwent standardization for scale and orientation, followed by precise landmark identification and coordinate data extraction. RESULTS: The geometric morphometry of the lacrimal punctum shows significant changes as one ages. However, the gender differences, in isolation, without consideration of age, remain subtle and are not pronounced. Interestingly, detailed Principal Component scores analysis revealed potential sex- and age-related variations specifically for the left and right lower puncta, which warrant further investigation. These changes could reflect unique aging changes in the proximal lacrimal drainage system. CONCLUSION: The study is a starting point for geometric morphometric analysis of the lacrimal punctum and provides valuable insights into the punctal changes in size, orientation, and overall morphology across different age groups and between sexes. These findings highlight the significance of considering individual age-wise anatomical variations to better understand the lacrimal punctum.

Dilemmas in the management of lacrimal drainage anomalies in BOSMA (congenital arhinia-microphthalmia) syndrome.

Congenital arhinia-microphthalmos syndrome or BOSMA syndrome is an exceptionally rare clinical syndrome characterized by unilateral or bilateral complete absence of the nasal cavity associated with several craniofacial, ocular, and systemic anomalies. Lacrimal drainage anomalies are secondary to absent nasolacrimal duct and usually present as dilated lacrimal sac or mucoceles. While navigation-guided dacryocystorhinostomies into the contralateral nasal cavity are described for unilateral arhinia, the way forward for the complete absence of the nose and nasal cavity is still unclear. A multidisciplinary team from the specialties of genetics, plastic surgery, ophthalmic plastics and reconstructive surgery, otorhinolaryngology, and endocrinology should get involved very early on for better continuity of care.

The role of CT-DCG in hardware - associated secondary acquired lacrimal duct obstruction: SALDO update study - (SUP) - Paper III.

Purpose: To study cases of hardware-associated secondary acquired lacrimal duct obstructions (SALDO) and the role of computed tomography dacryocystography (CT-DCG) scans in its diagnosis and management. Observations: Retrospective, interventional case review of four patients diagnosed as Hardware-associated SALDO, with primary maxillofacial repair performed elsewhere, were analyzed. The mean age was 36.5 years (range: 22-74 years), three of them being males. Left and right lacrimal systems were equally involved. Epiphora, swelling and discharge were the main presenting features. Three lacrimal sacs and nasolacrimal ducts on CT-DCG showed the screws of the orbital fracture plate directly piercing their walls, whereas a single case showed the sac displaced and pierced by the medial side of the orbital floor implant. Two cases underwent dacryocystorhinostomy with intubation, and the remaining two had to undergo dacryocystectomy due to extensive damage. Post-operatively all four cases were doing well at a mean follow-up of 2 months. Conclusions: The present series highlights the role of CT-DCG in delineating spatial relationship of lacrimal drainage system with the surrounding structures, facilitating planning as well as choice of surgery, and anticipating the intraoperative challenges. It also signifies importance of interdisciplinary coordination between oculoplastic and maxillofacial surgeons to avoid iatrogenic trauma to the lacrimal drainage system.

The Use of Hand-Held Digital Otoscope as a Basic Nasal Endoscopy Tool for Lacrimal Evaluation and Pedagogy Instrument.

PURPOSE: To investigate the utility of a hand-held digital otoscope for nasal endoscopy and as a pedagogy tool for residents and fellows in patients undergoing external dacryocystorhinostomy (DCR) surgery. METHODS: A digital otoscope (MS450-NTE, Teslong Inc., USA) comprising a digital screen device and a connectible camera probe was used for performing nasal endoscopy. Inspection of nasal cavities was performed pre-, intra-, and post-operatively in sequential patients with nasolacrimal duct obstruction, who underwent DCR or lacrimal probing. Images (1920 × 1080 pixels) and videos (1280 × 720 pixels) were captured. The device was also used for training residents and fellows in performing nasal endoscopy, and to teach basic concepts. RESULTS: The digital otoscope could be used for routine outpatient nasal examination and for performing minor procedures. 53.8% (n = 13) of ophthalmology trainees had never observed nasal endoscopy and 84.6% could not identify more than one major structure correctly prior to the current training. Post-training, all trainees could independently perform nasal endoscopy with the device and 76.9% identified all structures correctly. CONCLUSION: A digital otoscope with a camera probe is a handy tool for nasal endoscopy and pedagogy. Low-cost gadgets such as this device can effectively be used for performing outpatient nasal endoscopy when expensive endoscopes are unavailable and in peripheral healthcare centers.

scRNA-Seq: First Atlas and Cellular Landscape of Lacrimal Sac: Implications in Primary Acquired Nasolacrimal Duct Obstruction Pathogenesis.

Purpose: The aim of this study was to describe the transcriptional changes of individual cellular components in the lacrimal sac in patients with primary acquired nasolacrimal duct obstruction (PANDO) and attempt to construct the first lacrimal sac cellular atlas to elucidate the potential mechanisms that may drive the disease pathogenesis. Methods: Lacrimal sac samples were obtained intra-operatively during the endoscopic dacryocystorhinostomy (EnDCR) procedure from five patients. Single-cell RNA sequencing was performed to analyze each individual cell population including epithelial and immune cells during the early inflammatory and late inflammatory phases of the disease. Results: Eleven cell types were identified among 25,791 cells. T cells and B cells were the cell populations with the greatest variation in cell numbers between the two phases and were involved in immune response and epithelium migration-related pathways. The present study showed that epithelial cells highly expressed the genes of senescence-associated secretory phenotype (SASP) and were involved in influencing the inflammation, neutrophil chemotaxis, and migration during the late inflammatory stage. Enhanced activity of CXCLs-CXCRs between the epithelial cells and neutrophils was noted by the cell-cell communication analysis and is suspected to play a role in inflammation by recruiting more neutrophils. Conclusions: The study presents a comprehensive single-cell landscape of the lacrimal sac cells in different phases of PANDO. The contribution of T cells, B cells, and epithelial cells to the inflammatory response, and construction of the intercellular signaling networks between the cells within the lacrimal sac has further enhanced the present understanding of the PANDO pathogenesis.

Early trends of secondary acquired nasolacrimal duct obstruction in COVID-19 associated sino-orbital mucormycosis: SALDO update study (SUP) - Paper IV.

Purpose: To study the emerging trend of development of secondary acquired nasolacrimal duct obstruction (SALDO) in the cases treated for rhino-orbito-cerebral mucormycosis (ROCM). Observations: Prospective, interventional case series of five patients who developed SALDO post-surgical and medical management of ROCM. The mean age was 45.4 years (range: 40-62 years), all five being males. Right lacrimal drainage pathways was involved slightly more than the left (right:left = 3:2). Epiphora and discharge were the main presenting features. All five patients were treated with extensive debridement of the nose, sinuses, orbit and cerebral involvement as needed followed by medical management for ROCM. CT- Dacryocystography for all 5 patients showed obstruction at the lower end of the nasolacrimal duct. The patients underwent external dacryocystorhinostomy with mitomycin-C with or without intubation with good anatomical and functional outcomes at 6 months follow-up. Conclusions and importance: The present series highlights the possible etiology of development of SALDO in cases treated for ROCM, its management and discusses the role of Computed Tomography Dacryocystography (CT-DCG) in understanding the pathophysiology of the development of SALDO along with delineating the spatial relationship of the lacrimal drainage system with the surrounding structures.

Alterations of Lacrimal Sac Microbiota in Failed Dacryocystorhinostomy: The Lacriome Paper 6.

PURPOSE: To study the metagenomics of the microbes isolated from the lacrimal sac in patients with failed dacryocystorhinostomy (DCR). METHODS: A prospective study was performed on 10 consecutive patients with failed DCR. Lacrimal sac samples were obtained for metagenomic analysis during the revision endoscopic DCR. The samples were collected intraoperatively after a full-length lacrimal sac marsupialization and immediately transported on ice to the laboratory. A whole shotgun metagenome sequencing was performed on the IlluminaTM platform following DNA extraction and library preparation. The downstream analysis of the samples was performed using various software packaged in the Squeeze Metapipeline v1.3.0 and marker gene-based metagenomic phylogenetic analysis using MetaPhlAn4. RESULTS: The five major phyla identified across the samples of failed DCR include Proteobacteria, Firmicutes, Actinobacteria, Bacteroidetes, and Fusobacteria (Figure 1). The prevalent species include Stenotrophomonas maltophilia, Pseudomonas juntendi, Streptococcus pneumoniae, Acinetobacter ursingii, Citrobacter koseri, and Cutibacterium acnes (Figure 2). Among the other organisms identified, few were from genera candida and mezorhizobium. Among the viruses, the most abundant was the BeAn 58058 virus. It was interesting to note the occasional presence of plasmodium and toxoplasma species. The functional category distribution of KEGG (Kyoto encyclopedia of genes and genomes) data showed microbial metabolism to be the most involved function, followed by cellular processes. CONCLUSION: This is the first whole metagenome sequencing of the lacrimal sac contents from failed DCR patients. The organisms identified varied significantly from those isolated from patients with primary acquired nasolacrimal duct obstruction (PANDO) using similar techniques and reflect altered lacrimal microbiota in surgically unsuccessful DCRs.

Primary Lacrimal Sac Tumors with Extension into Vicinity: Outcomes with Endoscopy-Assisted Modified Weber-Ferguson's Approach.

PURPOSE: To evaluate the outcomes of endoscopy-assisted modified Weber-Ferguson's approach in the management of primary lacrimal sac tumors with extension into the neighboring tissues. METHODS: A retrospective interventional study was performed on all patients with lacrimal sac tumors treated with the endoscopy-assisted modified Weber-Ferguson approach between January 2010 and June 2022 at the Shanghai Ninth People's Hospital, China. Data assessed include demographics, clinical presentations, imaging features, surgical techniques, histopathology, adjuvant modalities of management, complications, and outcomes. RESULTS: A total of 13 patients were included in the analysis. Epiphora and palpable mass lesion were the presenting complaint in 84.6% (11/13) of the patients. Nearly half of the patients (46.1%, 6/13) were misdiagnosed as lacrimal duct obstruction. All the lacrimal sac tumors in the present series showed uneven enhancement on T1-weighted MRI imaging. Postoperatively, 84.6% (11/13) patients recovered well with excellent esthetics and were disease-free after a mean follow-up of 58.6 months. Two patients who underwent additional exenteration developed recurrence and succumbed (at 41 and 96 months follow up) while they were on palliative chemoradiation. CONCLUSION: The endoscopic-assisted modified Weber-Fergusson surgical approach is effective in providing better visibility and accessibility to lacrimal sac tumors with extension into neighboring tissue.

A major review of punctal stenosis: Updated anatomy, epidemiology, etiology, and clinical presentation.

We aim to provide a detailed and updated literature review on the epidemiology, etiology, clinical presentations, histopathology, and ultrastructural features of punctal stenosis. There are inconsistencies in the definition and staging of punctal stenosis. While advanced optical coherence tomography imaging techniques have revolutionized the way the punctum and vertical canaliculi are assessed or monitored following treatment, the planes of measurement to characterize punctum anatomy need to evolve further. The current criteria for diagnosing and grading punctal stenosis are inadequate and based on empirical clinical findings. There is increasing evidence of the role of lymphocytes and myofibroblasts in the pathogenesis of punctal stenosis. There is a need for a uniform assessment of punctal stenosis and a uniform reporting of severity that would help standardize the several management options available in the lacrimal armamentarium.

Lacrimal Sac Characteristics in Patients With Punctal and Canalicular Agenesis: Punctum Update (PUP) Study-Paper 3.

PURPOSE: To explore the endoscopic and histopathologic characteristics of the lacrimal sac (LS) and the nasolacrimal duct in cases with punctal agenesis presenting with LS swellings. METHODS: This is a prospective, interventional study of 13 LSs of 8 patients presenting with punctal agenesis and LS swellings over a 5-year study period (June 2018-July 2023). Complete ophthalmic examination was performed along with CT scans of the orbits. The LS was exposed with an anterior lacrimal crest incision and explored. The exterior and interior of the sac swelling were examined and LS flaps were sent for histopathological analysis. RESULTS: The mean age of the patients was 23 years with a male:female ratio of 5:3. All patients presented with swelling in the LS region. Occasional epiphora was the presenting feature in 6 patients. All patients had both upper and lower punctal agenesis on the affected side with associated LS swelling. CT scans showed a hypodense cystic swelling with expansion of the LS fossa and bony nasolacrimal duct ending abruptly short of the inferior meatus. Intraoperatively, the LS had thin, translucent walls with mucoid secretion and an absence of common canalicular opening. Histopathological analysis showed epithelium consistent with LS with less robust development of the sac walls and poorly structured lacrimal drainage-associated lymphoid tissue with scanty stromal inflammation. CONCLUSIONS: The development of LS and the nasolacrimal duct is structurally affected in patients with punctal agenesis. Retrograde approaches for epiphora resolution are not logical in such cases but conjunctivodacryocystorhinostomy with Jones tube can be a feasible option.

Evaluation of primary acquired nasolacrimal duct obstruction: Comparison of CT-DCG and dacryoendoscopy in accurately localizing the lacrimal drainage obstructions.

OBJECTIVE: To correlate and evaluate the power and limitations of CT-DCG in determining the level and type of lacrimal duct obstruction in comparison to dacryoendoscopy in patients clinically suspected to be having partial or complete primary acquired nasolacrimal duct obstruction (PANDO). METHODS: A retrospective chart review was performed on 1232 lacrimal drainage systems of 957 patients who suffered from primary acquired nasolacrimal duct obstruction (PANDO) at Shanghai Ninth People's Hospital. Patients were examined with CT-DCG and correlated with dacryoendoscopy and the findings of clinical examination. RESULTS: Of the studied patients, 173 were men and 784 were women with an age range of 18-93 years. Of the 1232 lacrimal pathways, good CT-DCG images could be obtained in 980 cases and dacryoendoscopy in 957 cases. Of these complete obstructions were noted in 81% (794/980), and partial obstructions were identified in 19% (186/980) with CT-DCG. CT-DCG and dacryoendoscopy showed 68.4% agreement for the type of the obstruction and 63% for the level of the obstruction. The majority of the obstructions occurred at the sac-duct junction (62.5%) followed by the upper half of the nasolacrimal duct (27.5%). There was a significant difference in the correlation of the obstruction type with age group and with the duration of symptoms. As the duration of symptoms increased, the proportion of complete lacrimal duct obstructions as shown on CT-DCG images increased and the proportion of incomplete obstruction decreased (p = 0.015). CONCLUSIONS: The junction of lacrimal sac and nasolacrimal duct was the most common obstruction site. Age and the duration of symptoms influenced the type of obstruction noted. The degree and level of agreement between the investigations was moderate. A combination of CT-DCG and Dacryoendoscopy could together identify the location more accurately.