Punctal Agenesis Research Articles

Endoscopic dacryocystorhinostomy outcomes in pediatric patients with nasolacrimal duct obstruction

ABSTRACT Purpose To determine the risk factors impacting the surgical success of endonasal dacryocystorhinostomy (eDCR) in pediatric patients. Methods This is a retrospective interventional case series of patients 18 years and younger treated over a 16-year period via eDCR for nasolacrimal duct obstruction (NLDO). Data were extracted on surgical outcomes, follow-up duration, and comorbidities (i.e. punctal agenesis, trisomy 21, dacryocystitis). Functional success was defined as the resolution of NLDO symptoms postoperatively. Results Of 356 cases in 281 patients (median age: 3.32 years), 78.9% of cases in 79.0% of patients achieved functional success after initial eDCR. The median follow-up duration without tearing symptoms as observed by an ophthalmologist and non-ophthalmology trained clinician was 11.0 months and 62.1 months, respectively. Patients with punctal agenesis and those requiring bilateral surgery had significantly higher rates of failure (p = .01; p < .001, respectively). Age at operation was not significantly associated with failure (p = .30). Excluding cases of trisomy 21 and punctal agenesis, functional success was achieved in 82.7% of 295 cases. Conclusions Endonasal DCR is effective in resolving NLDO symptoms in pediatric patients, with success rates comparable to the adult population and to an external approach. Despite a higher reoperation rate in patients with trisomy 21 and punctal agenesis, trisomy 21 and age at operation were not significant risk factors for failure.

Ocular and Systemic Abnormalities in Punctal Agenesis

Background: Punctal agenesis (PA) is a rare congenital anomaly that can occur in isolation or as part of an underlying syndrome. The benefit of genetic assessment in individuals with PA and clinical features that should prompt molecular workup has not been systematically studied. The aim of this study was to identify ocular and extraocular features associated with PA and determine its association with an underlying syndrome. Methods: A retrospective medical records review of ocular and extraocular medical histories in all patients diagnosed with PA at the Children’s Hospital of Philadelphia between 2009 and 2023 was conducted. Results: Forty-four patients were included, ages 3.3 ± 3.3 years. Our cohort was 31 males (70%). Twenty patients had isolated PA (45.5%), while 24 patients (54.5%) had other associated ocular or extraocular abnormalities. The most common ocular comorbidities were refractive disorders (n = 8, 33%), ptosis (n = 8, 33%), strabismus (n = 7, 29%), other eyelid disorders (n = 9, 38%), and amblyopia (n = 6, 25%). Nineteen (43%) individuals had systemic disorders and 18 (41%) underwent genetic testing. An associated genetic diagnosis was found in 17 (39%) individuals. The most common associated syndrome was ectodermal dysplasia. Systemic disorders were more prevalent in individuals with syndromic PA (4, 20% isolated PA vs. 15, 63%, PA-plus, p = 0.005). Conclusions: The presence of additional ocular abnormalities was associated with an increased rate of systemic disorders (63%). In individuals with PA who also exhibit additional ocular disorders, systemic evaluation and genetic workup should be considered.

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

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. 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. 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. 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.

Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis.

CHARGE syndrome is a rare multi-system condition associated with CHD7 variants. However, ocular manifestations and particularly ophthalmic genotype-phenotype associations, are not well-studied. This study evaluated ocular manifestations and genotype-phenotype associations in pediatric patients with CHARGE syndrome. A retrospective chart review included pediatric patients under 20 years-old with clinical diagnosis of CHARGE syndrome and documented ophthalmic examination. Demographics, genetic testing, and ocular findings were collected. Comprehensive literature review enhanced the genotype-phenotype analysis. Forty-two patients (20 male) underwent eye examination at an average age of 9.45 ± 6.52 years-old. Thirty-nine (93%) had ophthalmic manifestations in at least one eye. Optic nerve/chorioretinal colobomas were most common (38 patients), followed by microphthalmia (13), cataract (6), and iris colobomas (4). Extraocular findings included strabismus (32 patients), nasolacrimal duct obstructions (11, 5 with punctal agenesis), and cranial nerve VII palsy (10). Genotype-phenotype analyses (27 patients) showed variability in ocular phenotypes without association to location or variant types. Splicing (10 patients) and frameshift (10) variants were most prevalent. Patients with CHARGE syndrome may present with a myriad of ophthalmic manifestations. There is limited data regarding genotype-phenotype correlations and additional studies are needed.

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

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. 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. 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. 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.

Bony Congenital Nasolacrimal Duct Obstruction: A Novel Phenotype of Aplasia of Lacrimal and Major Salivary Glands

PurposeAplasia of lacrimal and salivary gland (ALSG) is a syndromic disorder characterized by aplasia of lacrimal and salivary systems. Reported ophthalmic manifestations of ALSG include aplasia of lacrimal glands, punctal agenesis, lacrimal sac mucocele and membranous congenital nasolacrimal duct obstruction (CNLDO). Bony CNLDO, a rare cause of congenital epiphora, has not been associated with any syndromic disorder. This study investigated the relationship between genetic mutations and bony CNLDO in three Chinese families with ALSG. DesignSingle-center observational case study. ParticipantsThree Chinese families with bony CNLDO including 7 affected and 9 healthy family members. MethodsSlit-lamp ophthalmic examination, comprehensive physical examination, orbital Computed Tomography (CT), cervicofacial Magnetic Resonance Imaging (MRI), audiometry and whole exome sequencing on periphery blood were performed. Variants were cross-referenced with 1000 control genomes and various population databases. Pathologic variants were identified using bioinformatic tools. Main Outcome MeasuresClinical examination, diagnostic imaging, whole exome sequencing and bioinformatic analysis findings. ResultsAffected patients had decreased tear production on Schimer I Test and reduced tear break-up time. Bony CNLDO was observed on computed tomography, showing unilateral or bilateral bony termination at the middle or terminal segment of the nasolacrimal canal. Cervicofacial MRI showed aplasia or absence of lacrimal, parotid and submandibular glands. Physical examination revealed normal ears, digits and facial morphology. Audiometry and dental assessment were conducted on the pediatric patients and yielded normal results. The clinical characteristic of patients aligned with diagnosis of ALSG. Genomic analysis revealed three novel heterozygous missense mutations of Fgf10 gene: c.316T>C, c.327C>G, c.332T>G. The inheritance pattern was autosomal dominant with variable penetrance. These variants were not observed in 1000 control chromosomes and population databases. These variant positions were also shown to be highly conversed across various animal species. Mutated genes and proteins were predicted as “deleterious” with most computational models with a few suggesting they may be “benign”. ConclusionsBony CNLDO was identified as a novel phenotype of ALSG implicated by missense mutations of highly conserved residues in the Fgf10 gene. These cases broadened our knowledge of Fgf10-related phenotypes and prompt clinicians to consider syndromic associations in patients with bony CNLDO.

Bilateral Nasolacrimal Duct Obstruction Managed With Probing and Irrigation in a Patient With FGF10-Associated Lacrimo-auriculo-dento-digital Syndrome.

The authors report a case of lacrimo-auriculo-dento-digital syndrome in a 16-month-old boy with punctal agenesis, upper canalicular dysgenesis and polydactyly, presenting as bilateral congenital nasolacrimal duct obstruction and unilateral acute dacryocystitis. Genetic sequencing revealed a novel mutation in fibroblast growth factor 10. [J Pediatr Ophthalmol Strabismus. 2023;60(4):e38-e40.].

Ectodermal Dysplasia with Bilateral Punctal Agenesis in a Nigerian Child: A Case Report

Ectodermal dysplasia (ED) is a hereditary condition that occurs worldwide. It is due to abnormality in the development of skin and its appendages (hair, teeth and nail). ED also presents with ocular manifestations. This case of ED is reported to highlight ocular manifestations such as bilateral punctal agenesis, madarosis and blepharitis. The need for a multi-disciplinary approach in managing such cases is underscored.

Endoscopic features of lacrimal sac and nasolacrimal duct in a child with all four punctal and canalicular agenesis

Endoscopic features of lacrimal sac and nasolacrimal duct in a child with all four punctal and canalicular agenesis

Histopathological Evidence of Canalicular Agenesis in Patients With Punctal Agenesis: Punctum Update Study 2.

The purpose of this study was to histologically assess the presence and extent of the canalicular tissue in cases of punctal agenesis. A prospective, interventional study was performed on 10 consecutive cases of punctal agenesis over a study period of 6 months. Exclusion criteria included cases with punctal dysgenesis or incomplete punctal canalization, secondary/acquired cases of punctal effacement, or any prior interventions. Following the exploration, the entire specimen of the tissue (length = 8 mm and depth = 3 mm) was sent for histopathological analysis to ascertain the presence and extent of the canalicular tissue. The mean age of the patients at the time of exploration was 7.5 years (range 6-10 years). Histopathological analysis showed tissue surfaces lined with stratified squamous epithelium with occasional interspersed goblets cells (conjunctival epithelium), a few chronic inflammatory cells, and muscle fragments. Epithelium suggestive of proximal lacrimal drainage system was absent. Canalicular tissues were found to be absent in all cases of punctal agenesis. The present series did not find any histologic evidence of canalicular tissues in cases of punctal agenesis. The findings of this study do not support retrograde approaches in cases of punctal agenesis.

Co-existing lacrimal drainage anomalies in eyes with congenital Glaucoma.

To evaluate the occurrence of co-existing congenital nasolacrimal duct obstruction (CNLDO) and other lacrimal anomalies in eyes with congenital glaucoma (CG). Retrospective analysis of children aged ≤1-year with co-existing CG and CNLDO seen between 1998 and 2019, treatment interventions and outcomes. During the study period, 1993 children had CG and 6203 children had CNLDO, among the children aged 1-year or less. Of these, 51 children (73 eyes) had co-existing CG and CNLDO. The prevalence of CNLDO in CG was 2.5% (51/1993) and the prevalence of CG among CNLDO was 0.8% (51/6203). Median age (Interquartile range, IQR) was 53 days (IQR: 8, 155), when they were diagnosed with CG. Among the children with CNLDO, 68 eyes (93.1%) had simple CNLDO, and 5 eyes (6.9%) had complex CNLDO. Associated lacrimal anomalies were present in 7/73 eyes, including congenital lacrimal fistula in two eyes, upper punctal agenesis and upper mid-canalicular obstruction in two eyes each, and upper single canalicular-wall hypoplasia in one eye. Lacrimal syringing and probing were successful in 69/72 eyes (95.8%), and failed in 3 eyes (4.2%). These 3 eyes had complex CNLDO and underwent Dacryocystorhinostomy (DCR) with Mitomycin-C and intubation. Sixty-two eyes underwent combined trabeculotomy and trabeculectomy, and two eyes underwent trabeculectomy. Median age at glaucoma surgery was 87 days (IQR: 54, 193). Median time delay for glaucoma surgery after probing was 18 days (IQR: 12, 35). Among children aged ≤1-year presenting with congenital glaucoma coexisting lacrimal drainage anomalies was noted in 2.5% and simple CNLDO was the commonest. Early intervention is of paramount importance to prevent sight-threatening intraocular infection with CNLDO, and to minimize the delay of glaucoma surgery. The outcomes of lacrimal probing were excellent, however complex CNLDO required DCR.

Update on the Long-Term Outcomes Following the Management of Incomplete Punctal Canalization.

To study the clinical profile, associated lacrimal disorders, and long-term outcomes following a membranotomy, in patients with incomplete punctal canalization (IPC). Retrospective interventional study was performed of all the patients diagnosed with IPC during the study period over 5 years from January 2015 to December 2020. The diagnosis of IPC was made based on the earlier published guidelines. A combination of rapid and slow taper Nettleship's punctal dilators were used for an effective membranotomy, followed by further assessment of the lacrimal drainage passage. Appropriate interventions for associated lacrimal disorders were performed. Data collected on chart reviews include demographics, clinical presentation, laterality, type of IPC, associated lacrimal anomalies, management modalities, and long-term outcomes. Ninety-eight puncta of 62 eyes of 46 patients with IPC were examined in the clinic. Incomplete punctal canalization-external membrane variant was seen in 62% (61/98) and internal membrane variant in 38% (37/98). Seventy-eight puncta (78/98, 79.5%) in 39 patients underwent membranotomy using Nettleship's punctal dilator. Associated lacrimal drainage pathway deformities were seen in 31% of patients (12/39). Three puncta had mini-monoka insertion for associated canalicular stenosis and canalicular obstruction. Five patients with associated congenital nasolacrimal duct obstruction underwent probing, of which 3 patients needed dacryocystorhinostomy for complex congenital nasolacrimal duct obstruction. Associated punctal agenesis was noted in 3 patients involving the other punctum of the same eye. Canalicular wall hypoplasia involving 3 walls of the canaliculus was seen in 1 patient. At a mean follow up of 28 months, the anatomical and functional outcomes were noted in 100% and 97.4%, respectively. The long-term outcomes of membranotomy for IPC are excellent. Associated congenital lacrimal drainage anomalies are common with IPC.

Ocular manifestations of ectodermal dysplasia

PurposeThe ectodermal dysplasias (EDs) constitute a group of disorders characterized by abnormalities in two or more ectodermal derivatives, including skin, hair, teeth, and sweat glands. The purpose of the current study was to evaluate ocular manifestations in pediatric patients with ED.MethodsRetrospective case series including consecutive ED subjects who were treated in the ophthalmology department at the Children’s Hospital of Philadelphia over a 12-year period (2009–2020). Main Outcome Measures were ocular and ocular adnexal abnormalities.ResultsThirty subjects were included: 20 males (67%), mean age of 4.5 years (range 0.3–18). Patients with different subtypes were included, with the hypohidrotic ED and ectrodactyly-ectodermal dysplasia-clefting variants being most prevalent. Most common findings were: lacrimal drainage obstruction in 12 (40%) including punctal agenesis in 10 (33%), refractive errors in 13 (43%) and amblyopia in 6 (20%). A new finding of eyelid ptosis or eyelash ptosis was demonstrated in 11 subjects (37%), mostly associated with TP63 or EDA1 genes variants.ConclusionEctodermal dysplasias are associated with various ocular pathologies and amblyopia in the pediatric population. We report a possible genetic association between lash ptosis and EDA1 gene, and eyelid ptosis and TP63 or EDA1 genes variants.

Lacrimal drainage system involvement in Peters anomaly: clinical features and outcomes

ABSTRACT Purpose To present first of its kind series on the clinical features and outcomes of lacrimal drainage disorders in Peters anomaly and Peters plus syndrome. Methods A retrospective chart review was performed of all consecutive patients who were known cases of Peters anomaly or Peters plus anomaly and were diagnosed with associated congenital lacrimal drainage disorders. The study period was from June 2016 to Dec 2020. All these patients underwent examination under anaesthesia for a detailed assessment of lacrimal drainage anomalies. Where indicated, they were treated with probing, intubation, or in refractory patients with a dacryocystorhinostomy. The anatomical and functional outcomes were assessed. Results Of the 282 patients with Peters anomaly, 4 (1.4%) patients had associated lacrimal drainage system anomalies while of the 16 Peters plus anomaly children, 3 (18.75%) had associated lacrimal drainage system anomalies. A total of 12 lacrimal drainage systems of 12 eyes of 7 patients of Peters anomaly were found to be involved. Upper or lower punctal agenesis were noted in 3 eyes. Three eyes had complex congenital nasolacrimal duct obstruction (CNLDO), two of which had a bony NLD block and one had a misdirected nasolacrimal duct through the inferior turbinate. One eye had a diffuse NLD stenosis without a CNLDO. Following appropriate management, at a mean follow-up of 25.7 months (range: 3–48 months), all the eyes except one (91%, 10/11) demonstrated anatomical and functional success. Conclusion Lacrimal drainage involvement was more common in Peters plus syndrome. Multiple proximal and distal lacrimal drainage segment anomalies were noted in all the variants of Peters anomaly; however, Peters plus syndrome was noted to usually involve both the segments.

External Dacryocystorhinostomy with Intubation in Shrunken Fibrotic Sac in Chronic Dacryocystitis

Purpose: To assess anatomical success rate of external dacryocystorhinostomy (DCR) with intubation in long standing chronic dacryocystitis with shrunken fibrotic sac. Secondary objective was to document frequency of intraoperative and postoperative complications of external DCR in such cases.&#x0D; Study Design: Quasi experimental study.&#x0D; Place and Duration of Study: Ophthalmology department, Abbasi Shaheed Hospital, Karachi from January 2015 to December 2017.&#x0D; Material and Methods: Patients with chronic dacryocystitis for 2 years or more, 18 to 60 years old, repeated acute attacks twice or more in past 1 year and fibrotic sacs were included. Canaliculitis, canalicular blocks, punctal agenesis and enlarged sacs were excluded. Surgeries were carried out under general anaesthesia. Fibrotic lacrimal sac was identified and excised, ostium was created in nasal bone and bi canalicular intubation was done. Surgery was labeled successful if patency of the pathway was achieved by syringing at 6 month postoperatively.&#x0D; Results: There were 82 patients, with 59 (72%) females. Mean ages were 32 ± 10.3 years. Left eye was seen in 44 (53.7%) patients. Surgery was successful in 61 (74.3%) patients. Intraoperative bleeding occurred 8 (9.8%) and lacrimal crest was difficult to locate in 6 (7.3%) cases. Postoperatively wound infection and ecchymosis was seen in 8 (9.8%) patients, cheese wiring in 5 (6.1%) and fistula was seen in 2 (2.4%) patients. Cross tabulation was done between gender and successful dacryocystorhinostomy which was statistically not significant (p value 0.71).&#x0D; Conclusion: Dacryocystorhinostomy with intubation has good surgical outcome in long standing chronic dacryocystitis with fibrosed sacs. It has few Intraoperative and postoperative complications but they are manageable.

Acquired Obliteration of the Proximal Lacrimal Drainage System.

We present a series of patients with acquired obliteration of one or more components of the proximal lacrimal drainage system, including puncta and canaliculi. This finding was noted with and without other obstructions or stenoses of the lacrimal drainage system. Review of these patients in search of possible risk factors for this condition and histopathology of two patients are presented. Medical records of patients treated at the Massachusetts Eye and Ear Infirmary between 2010 and 2016 with diagnosis codes of lacrimal punctum stenosis, stenosis of unspecified lacrimal punctum, epiphora due to insufficient drainage, and epiphora not otherwise specified were retrospectively reviewed. Patients were excluded if there was a history of congenital punctal agenesis, trauma, or any other identifiable etiology of lacrimal system obstruction. Twelve patients were identified with obliterated puncta. Most patients were female (n = 11, 91.7%) and Caucasian (n = 9, 75%). The mean age was 61 years (median 62, range 22-90 years). Clinical findings ranged from one involved punctum to all four puncta, and associated ipsilateral canalicular obstruction was noted in 4 patients (33.3%). The inferior puncta were the more frequently affected structures (61.5%) compared to the superior puncta (38.5%). Nine patients (75%) reported use of topical ophthalmic medications prior to onset of symptoms. The most frequent class of medication implicated was topical antibiotics; however, patients often used a combination of medications. In 2 cases, pathological specimens of the canaliculi revealed absence of a canalicular lumen. Although various combinations of lacrimal system stenoses and obstructions have been described, acquired punctal obliteration is an under-recognized entity. These cases differ from typical punctal stenosis in that the puncta are completely obliterated, and no indication of a punctal opening is clinically detectable. In this study, 3 patients had previously documented normal lacrimal irrigation. The ipsilateral canaliculi were also found to be obstructed in a third of patients. Two patients had complete absence of a canalicular lumen on histopathology. The predominance of inferior punctum involvement, patient history of symptom onset after ipsilateral medication use, and known prior patent irrigation in several cases support the hypothesis that these cases represent a severe yet insidious idiosyncratic reaction to topical medication.

CORNEAL FINDINGS IN ECTRODACTYLY ECTODERMAL DYSPLASIA CLEFTING SYNDROME: CASE REPORT AND LITERATURE REVIEW

The purpose of this study was to report the ocular findings in an unusual case of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome and review the etiology and clinical presentation of similar cases in the literature. Thys study is an observational case report of a 13-year-old woman with complaints of epiphora and red eye. On examination she presented with lacrimal punctal agenesis and neovascularization in both eyes. She was treated medically and without any surgical intervention. Corneal changes in EEC can have variable presentation. The etiology of such keratopathy seems to be due to several factors and limbal stem cell deficiency (LSCD) being the most recent factor involved. Recurrent infection from lacrimal drainage obstruction and tear film instability are other risk factors for disease severity and progression. Since these patients present several anomalies, it is important, to follow an interdisciplinary approach to reduce complications and provide the best possible medical care.

Lacrimal drainage anomalies in congenital rubella syndrome.

PurposeThe objective of this study was to ascertain the lacrimal drainage anomalies in a cohort of patients suffering from congenital rubella syndrome (CRS).MethodsThis was a retrospective case series performed in patients with CRS presenting with associated lacrimal drainage anomalies (LDA) over 6 years from 2011 to 2016. All the patients were confirmed as having CRS after clinical and laboratory testing. Data collected include demographics; associated lacrimal, ocular, and systemic anomalies; interventions performed for lacrimal anomalies; and their anatomical and functional outcomes.ResultsEighty five patients were diagnosed as having CRS during the study period, and of these 23 eyes of 12 patients with associated LDA were included in the study. The prevalence of LDA was 14% in CRS. The mean age at presentation was 15.5 weeks, and all except one had bilateral presentation. Seventeen eyes were diagnosed with simple congenital nasolacrimal duct obstruction (CNLDO) and the remaining six eyes had complex CNLDO with buried probes. Additional lacrimal anomalies noted in the six complex CNLDO cases included punctal agenesis (n=3), atonic sac (n=3), incomplete punctal canalization (n=2), and single canalicular wall hypoplasia (n=1). At a mean follow-up of 12.54 months, anatomical and functional success were noted in 91.3% (21/23 eyes).ConclusionSimple CNLDO was the most common of the LDA in CRS. Buried probe was universal among the cases with complex CNLDO. All CRS patients should be screened for lacrimal anomalies to initiate appropriate interventions for successful outcomes.

Familial Lacrimal Punctal Agenesis in who are Members of Three Generations

Lacrimal punctal agenesis is a rare cause of congenital epiphora and may occur in isolation or in combination with other lacrimal drainage anomalies such as pathologies of the canaliculus, lacrimal sac, and nasolacrimal duct. It rarely occurs in a familial manner. If diagnosed earlier, management of this condition may be as simple as a sharp opening or may necessitate more complex interventions. Here, we report the familial absence of lacrimal punctal in four patients who are members of three generations.

Canaliculops Associated With Punctal Agenesis

Canaliculops or canaliculocele is a rare form of noninflammatory and noninfectious canalicular ectasia. To the best of the authors' knowledge, so far only 5 such cases have been described in the literature. Typical clinical and characteristic immunohistochemical features aid in the diagnosis. Although rare, it should be kept in the differential diagnosis of cystic lesions in the medial canthus area. The authors report the sixth such case, but the first case to show an association with punctal agenesis. Addition of more such cases to literature will help unravel the etiopathogenesis of this intriguing canalicular disorder.