Punctal agenesis: Embryology, presentation, management modalities and outcomes

Dohlman, Jenny C.; Habib, Larissa A.; Freitag, Suzanne K.

doi:10.1016/j.aanat.2019.04.004

Cited by 11 publications

(11 citation statements)

References 25 publications

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“…Regardless of the cause, failure of horizontal cell column budding or arrest of development in this embryological process can lead to congenital lacrimal duct dysplasia [2,7] . The canalization process may be segmental, giving rise proximally to a continuous central lumen from multiple isolated canalization cavities or simultaneously throughout the length of the nasolacrimal apparatus, with the exception of the puncta and distal end of the nasolacrimal duct, which remain occluded by a combination of conjunctiva and canalicular epithelium until the seventh month of gestation [14] . According to the literature, congenital lacrimal duct dysplasia includes partial or complete absence of the lacrimal duct, abnormal canalization of the lacrimal duct, or hypoplasia at the distal end of the NLD [1] .…”

Section: Discussionmentioning

confidence: 99%

Identification of a novel mutation in the FGF10 gene in a Chinese family with obvious congenital lacrimal duct dysplasia in lacrimo-auriculo-dento-digital syndrome

Zhang¹,

Wang²,

Tao³

et al. 2023

Int J Ophthalmol

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AIM: To identify the pathogenic gene variant in a family with lacrimo-auriculo-dento-digital syndrome [LADD (MIM 149730)] showing congenital lacrimal duct dysplasia as the main clinical manifestation and lay the foundation for future research on the pathogenic gene. METHODS: Ophthalmological examinations, including slit-lamp biomicroscopy and lacrimal duct probing, and computed tomography dacryocystography (CT-DCG) were performed for all participants. The family pedigree was drawn, genetic features were analyzed, and the genomic DNA of the subjects was extracted. Pathogenic genes were screened via whole exome sequencing (WES) and confirmed using Sanger sequencing. RESULTS: Six patients belonged to this three-generation family, and their clinical manifestations included congenital nasolacrimal duct obstruction, congenital absence of lacrimal puncta and canaliculi, lacrimal fistulae, and limb deformities. This pattern indicates autosomal dominant inheritance. Diagnosis was based on the clinical characteristics of LADD syndrome, which presented in all the patients in this family. A novel frameshift mutation in the FGF10 gene (NM_004465.1), c.234dupC (p.Trp79Leus*15), was identified in all patients via WES. The variant was confirmed by Sanger sequencing and classified as a “pathogenic mutation” according to the American College of Medical Genetics and Genomics (ACMG) variant interpretation guidelines. CONCLUSION: A novel frameshift mutation in the FGF10 gene is found in all patients. This finding helps this family with LADD syndrome receiving a more accurate clinical diagnosis and genetic counseling by extending the mutation range of the FGF10 gene.

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Section: Discussionmentioning

confidence: 99%

Identification of a novel mutation in the FGF10 gene in a Chinese family with obvious congenital lacrimal duct dysplasia in lacrimo-auriculo-dento-digital syndrome

Zhang¹,

Wang²,

Tao³

et al. 2023

Int J Ophthalmol

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“…Incomplete punctal canalization can be clinically differentiated from punctal agenesis, and a simple membranotomy offers excellent outcomes. 4,13 Lacrimal sac in cases of punctal agenesis also shows varying degrees of dysgenesis. Ali et al 14 described the endoscopic features of the lacrimal sac in a case of upper and lower punctal agenesis.…”

Section: Discussionmentioning

confidence: 99%

“…Incomplete punctal canalization can be clinically differentiated from punctal agenesis, and a simple membranotomy offers excellent outcomes. 4,13…”

Section: Discussionmentioning

confidence: 99%

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

Bothra

Ali

2022

Ophthalmic Plastic &Amp; Reconstructive Surgery

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Purpose: The purpose of this study was to histologically assess the presence and extent of the canalicular tissue in cases of punctal agenesis. Methods: 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. Results: 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. Conclusion: 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.

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“…Agenesis of one or both lacrimal canaliculi is a rare cause of epiphora and it was diagnosed in only 0.7% of our patients with proximal lacrimal obstructions. This condition may be an isolated finding or may be associated with other developmental anomalies (Lyons et al 1993), and in these cases, radiological investigation is necessary to exclude associated anomalies before performing reconstructive surgery (Dohlman et al 2019). If lower punctum is absent in most cases no canalicular tissue can be identified at surgery (Wearne et al 1999) and a bypass tube is required.…”

Section: Discussionmentioning

confidence: 99%

Management of proximal lacrimal obstructions: a rationale

Quaranta‐Leoni

Fiorino

Serricchio

et al. 2020

Acta Ophthalmologica

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Purpose To identify a rationale for correct surgical treatment of proximal lacrimal obstructions. Methods Retrospective review of 775 consecutive patients (974 eyes) with proximal lacrimal obstructions, operated on with customized surgery by a senior surgeon (FMQL) from January 2003 to December 2018. Results In case of punctal stenosis, punctoplasty was as effective as punctal dilatation with monocanalicular or bicanalicular stent (p > 0.05). In proximal canalicular obstructions, failure rate of dacrocystorhinostomy with retrograde intubation (R‐DCR) was significantly higher in case of false inferior passage creation than in case of no false passage creation (p = 0.02). In mid‐canalicular obstructions failure rate of R‐DCR was 41.3%, and bypass surgery with Jones tube at second stage was likely. Trephination and monocanalicular intubation, performed in selected cases, had a failure rate respectively of 16.6% and 21.7% in mid and distal canalicular obstructions. Canaliculodacryocystorhinostomy (CDCR) was successful in 77% of cases of proximal common canalicular obstruction. Bypass surgery is the treatment of choice in case of no residual patency, and rates of tube extrusion were significantly reduced with the use of StopLoss Jones tubes (SLJT) (1.7%) with respect to standard tubes (12%), (p = 0.04, Fisher’s exact test). Conclusion Patient history and accurate diagnosis of the site of obstruction are essential for a correct surgical choice. Less invasive techniques as trephination and intubation may be effective, but should be reserved to patients with no associated lower lacrimal obstruction. Further studies require specific randomized clinical trials, and a standardized protocol adopted by different clinical centres.

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Punctal agenesis: Embryology, presentation, management modalities and outcomes

Cited by 11 publications

References 25 publications

Identification of a novel mutation in the FGF10 gene in a Chinese family with obvious congenital lacrimal duct dysplasia in lacrimo-auriculo-dento-digital syndrome

Identification of a novel mutation in the FGF10 gene in a Chinese family with obvious congenital lacrimal duct dysplasia in lacrimo-auriculo-dento-digital syndrome

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

Management of proximal lacrimal obstructions: a rationale

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