Punctal Atresia Research Articles

Long-term Results of Punctoplasty With Canalicular Triangular Flap in Punctal Stenosis.

The aim was to describe the punctoplasty technique with canalicular triangular flap, and present the long-term results of the technique in patients with inferior punctal stenosis. The files of the patients who were diagnosed with punctal stenosis grade 0, 1, and 2 and underwent a canalicular triangular flap were evaluated retrospectively. The study was approved by the local ethical committee of the University of Health Sciences, Prof. Dr. Cemil Tascioglu City Hospital, Istanbul. The demographic data, symptoms, prior interventions, punctal stenosis grading, associated eye pathologies, fluorescein clearance test, Munk score, and follow-up time were recorded. The puncta were evaluated biomicroscopically, and photographs were taken at each visit. The patients with at least 6 months of follow-up were included in the study. The loss of epiphora symptom, positive dye disappearance, and puncti ≥grade 3 opening were accepted as a success. A hundred and nine inferior puncti of 64 patients with symptoms of epiphora and punctal stenosis diagnosis were included in the study. Thirteen eyes were excluded as they were diagnosed to have punctal atresia or canalicular stenosis of a variable degree beyond punctum. The rest 96 eyes of 55 patients-65 eyes of 36 females and 31 eyes of 19 males-were included in the study as having pure punctal stenosis. The mean age of the patients was 64.3 ± 9.01 years (40-88 years). Forty-one patients had bilateral and 14 patients had unilateral punctal stenosis. Sixty-six were grade 1, and 30 were grade 2. Epiphora was the most commonly reported symptom.The mean follow-up time was 21.17 ± 10.5 months (6-46 months). In 76 (79.1%) eyes of 96, Munk score was 0 and in 15 (15.6%) eyes, Munk score was 1. Anatomical success as having puncta larger than grade 2 was recorded in 97.9%, and functional success was recorded in 94.6% of anatomically successful eyes. No restenosis was recorded in any punctum. Although the techniques of 1-snip, 2-snip, 3-snip, and 4-snip punctoplasty are performed with variable success rates in punctal stenosis patients, there is always a risk of restenosis due to the incision of the flap and unpredictability of the way the tissues will epithelize. In the canalicular triangular flap technique, the canalicular mucosal flap is preserved, and the continuity of the lacrimal mucosa with conjunctiva is provided, which utilizes appropriate re-epithelization of the wound edges, resulting in a wide punctal opening for the upper lacrimal system in the long term.

Punctal Atresia As a Clinical Indicator of Systemic Genetic Anomalies

ABSTRACT Background Punctal atresia or agenesis (PA) is a rare congenital anomaly characterized by the absence or closure of the tear duct puncta, potentially linked to systemic genetic anomalies. The necessity of a genetic workup based solely on the presence of PA remains uncertain. This study investigates a cohort of PA patients, examining the prevalence and types of associated syndromes. Methods A retrospective medical records review of all patients diagnosed with PA at the Children’s Hospital of Philadelphia between 2009–2023 was conducted, analyzing medical histories and genetic testing results. Primary outcomes included the prevalence of systemic syndromes, while secondary outcomes focused on the variety of associated syndromes. Results Forty-four patients were included, of which 31 were male (70%) with a mean ± SD age 3.3 ± 3.3 years. Overall, 87 puncta in the study cohort were affected, and 26 cases (59%) were bilateral. Systemic abnormalities or genetic syndromes were identified in 19 patients (43%), with the most common being Ectodermal Dysplasia and Down syndrome. Additional rare syndromes were demonstrated. No significant association was found between systemic abnormalities and gender, bilaterality, or the number of puncta involved. Conclusions A high incidence of systemic syndromes (43%) was observed in the study cohort. In individuals with PA who also exhibit extraocular disease, systemic evaluation and genetic workup should be considered. Syndromic diagnoses identified in our cohort also include: Branchio-oto-renal syndrome, 22q11.2 deletion syndrome, 1q21.1 microdeletion syndrome, NF1, monosomy 4q and trisomy 6q, which represent novel associations. The lack of correlation between PA’s phenotypic severity and systemic abnormalities highlights the need to obtain a comprehensive medical history and consider a systemic workup in PA patients.

Partial penetrance and phenotypic variability of aplasia of lacrimal and salivary glands caused by a novel FGF10 donor splice-site mutation.

Thirteen affected individuals of six generations of a single kindred presented with epiphora evident from infancy. Physical exam and Schirmer test revealed variable expression of tear deficiency, congenital punctal atresia, and dry mouth with multiple caries, without concomitant abnormalities of the ears or digits, commensurate with a diagnosis of aplasia of the lacrimal and salivary glands (ALSG). Reconstruction of the upper lacrimal drainage system was performed in some of the affected individuals. Genetic analysis, testing six affected individuals and three non-affected family members, identified a single novel heterozygous splice-site variant, c.429 + 1, G > T in fibroblast growth factor 10 (FGF10) (NM_004465.1), segregating throughout the family as expected for dominant heredity. RT-PCR assays of HEK-293 cells transfected with wild type or mutant FGF10 demonstrated that the variant causes skipping of Exon 2. Notably, individuals sharing the same variant exhibited phenotypic variability, with unilateral or bilateral epiphora, as well as variable expression of dry mouth and caries. Moreover, one of the variant carriers had no ALSG-related clinical findings, demonstrating incomplete penetrance. While coding mutations in FGF10 are known to cause malformations in the nasolacrimal system, this is the second FGF10 splice-site variant and the first donor-site variant reported to cause ALSG. Thus, our study of a unique large kindred with multiple affected individuals heterozygous for the same FGF10 variant highlights intronic splice-site mutations and phenotypic variability/partial penetrance in ALSG.

Why Systematic Examination is Important in Diagnosis of Eye Diseases? Lacrimal Punctal Atresia of a Dog Treated When He Reaches the Age of 15 Months

Why Systematic Examination is Important in Diagnosis of Eye Diseases? Lacrimal Punctal Atresia of a Dog Treated When He Reaches the Age of 15 Months

Bilateral Upper and Lower Eyelid Severe Psoriasiform Blepharitis: Case Report and Review of Literature

The purpose of the present study is to describe a case of severe, psoriasiform blepharitis by means of a case report and literature review. A 44-year-old man developed chronic blepharitis and tearing months after bilateral cataract surgery. Exam showed diffuse quad-eyelid erythema, discharge, edema, madarosis, and scale. He also had insufficient tear drainage due to bilateral upper eyelid cicatricial punctal atresia with bilateral lower eyelid punctal stenosis. Biopsy of the lower eyelids exhibited psoriasiform hyperplasia. Topical 0.1% tacrolimus achieved improvement but caused some subjective eye irritation. Psoriasiform dermatitis manifesting on the eyelids is rare, may be associated with insufficient tear drainage, and may respond favorably to 0.1% tacrolimus.

Dysplasie ectodermique anhidrotique : « l’ameibomie congénitale »

Anhidrotic ectodermal dysplasia is a congenital, generally X-linked dermatosis that associates facial dysmorphy, short stature, and severe blepharitis. The anomalies of the skin are epidermic abnormalities; reduction of the glands of the derm, particularly the sweat glands, explaining the hypohidrosis; onychodysplasia; trichodysplasia; and abnormal dentition. The ophthalmologic manifestations are palpebral anomalies with a reduction in or an absence of Meibomian glands, dysfunction of the Moll and Zeis glands, leading to chronic squamous blepharitis and lacrimal punctal atresia. These anomalies result in severe attacks of the ocular surface, developing during the second decade, which are often invalidating and require a rigorous follow-up to avoid corneal complications.

Familial Absence of Lacrimal Puncta Associated With Preauricular Sinuses

Previously reported cases of lacrimal outflow dysgenesis have frequently been associated with developmental anomalies or systemic syndromes, raising potential red flags in affected children. We report an unusual case of familial punctal atresia with apparent genetic linkage to bilateral preauricular sinuses without any such comorbid syndromic features.

Infantile glaucoma and punctal atresia in a child with caudal regression syndrome

Caudal regression syndrome (CRS) is a rare embryopathy characterized by maldevelopment of the vertebrae, visceral organs, and lower extremities. Patients with CRS have deformities of the sacrococcygeal vertebrae and develop neurogenic bladder from dysfunction of the sacral nerve root. 1 Escobar L.F. Weaver D.D. Caudal regression syndrome. in: Buyse M.L. Birth defects encyclopedia. Blackwell Scientific, Cambridge (MA)1990: 296-297 Google Scholar , 2 Adra A. Cordero D. Mejides A. Yasin S. Salman F. O’Sullivan M. Caudal regression syndrome etiopathogenesis, prenatal diagnosis, and perinatal management. Obstet Gynecol Surv. 1994; 49: 508-516 Crossref PubMed Scopus (75) Google Scholar , 3 Russell L.J. Weaver D.D. Bull M.J. The axial mesodermal dysplastic spectrum. Pediatrics. 1981; 67: 176-182 PubMed Google Scholar Additional anomalies include congenital heart defects, intestinal malrotation, agenesis of the genitourinary system, imperforate anus, and malformation of the lower limbs. 1 Escobar L.F. Weaver D.D. Caudal regression syndrome. in: Buyse M.L. Birth defects encyclopedia. Blackwell Scientific, Cambridge (MA)1990: 296-297 Google Scholar , 2 Adra A. Cordero D. Mejides A. Yasin S. Salman F. O’Sullivan M. Caudal regression syndrome etiopathogenesis, prenatal diagnosis, and perinatal management. Obstet Gynecol Surv. 1994; 49: 508-516 Crossref PubMed Scopus (75) Google Scholar , 3 Russell L.J. Weaver D.D. Bull M.J. The axial mesodermal dysplastic spectrum. Pediatrics. 1981; 67: 176-182 PubMed Google Scholar Ocular findings described in the nonophthalmic literature have been confined to hypertelorism, epibulbar dermoid, and anophthalmia. 3 Russell L.J. Weaver D.D. Bull M.J. The axial mesodermal dysplastic spectrum. Pediatrics. 1981; 67: 176-182 PubMed Google Scholar , 4 Bini R. Danti D.A. Materassi M. Pela I. Report of a new case of axial mesodermal dysplasia complex. Clin Genet. 1996; 50: 407-410 Crossref PubMed Scopus (7) Google Scholar We report a patient with CRS who presented with infantile glaucoma and punctal atresia. A computerized search of the medical literature showed no previous reports of CRS in ophthalmic journals and no previous reports of an association with glaucoma or nasolacrimal anomalies.

Lacrimal Drainage Anomalies in Mandibulofacial Dysostosis

Seven patients who had the complete form of mandibulofacial dysostosis were examined to determine the prevalence of nasolacrimal abnormalities. Bilateral inferior punctal atresia (and, by implication, accompanying inferior canalicular atresia) was identified in all seven patients; a 95% confidence interval for the true underlying rate of this finding in mandibulofacial dysostosis is 59% to 100%. Lacrimal surgery was required in only one patient who had coexistent bilateral nasolacrimal duct obstruction and chronic dacryocystitis and who responded well to bilateral dacryocystorhinostomy.

Lacrimal Drainage Anomalies in Mandibulofacial Dysostosis

Seven patients who had the complete form of mandibulofacial dysostosis were examined to determine the prevalence of nasolacrimal abnormalities. Bilateral inferior punctal atresia (and, by implication, accompanying inferior canalicular atresia) was identified in all seven patients; a 95% confidence interval for the true underlying rate of this finding in mandibulofacial dysostosis is 59% to 100%. Lacrimal surgery was required in only one patient who had coexistent bilateral nasolacrimal duct obstruction and chronic dacryocystitis and who responded well to bilateral dacryocystorhinostomy.

THE MANAGEMENT OF PEDIATRIE LACRIMAL PROBLEMS

The most common cause of tearing in the pediatric age group is blockage of the distal end of the nasolacrimal duct at the valve of Hasner. Evaluation with fluorescein using the dye disappearance test and the primary dye test, although not always as accurate as in adults, is possible. Conservative treatment is attempted initially followed by probing and, if necessary, silicone intubation. Less common causes of tearing are punctal atresia and congenital lacrimal sac fistula, which are usually diagnosed later, requiring opening of the atretic membrane and excision of the fistula tract, respectively. Amniotoceles are usually seen within a week of birth and are treated aggressively with medication and/or probing to prevent acute dacryocystitis.