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 foundatio...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 frameshif t mutation in the FGF10 gene(NM_004465.1),c.234dup C(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.展开更多
AIM:To determine the 15-year outcomes of laser dacryoplasty(LDP)in patients with lacrimal duct obstruction;and to evaluate LDP combined with intubation using a new silicone tube to treat complicated cases.METHODS:Pati...AIM:To determine the 15-year outcomes of laser dacryoplasty(LDP)in patients with lacrimal duct obstruction;and to evaluate LDP combined with intubation using a new silicone tube to treat complicated cases.METHODS:Patients with lacrimal duct obstruction and treated with LDP between April 2000 and April 2005 were investigated retrospectively.Totally 116 eyes with completed 15-year follow-up records were included in this study.For complicated cases(52 eyes of 52 patients),both LDP and intubation using a self-made silicon tube were performed.For patients with uncomplicated obstruction(64 eyes of 61 patients),only LDP was performed.Outcomes were assessed based on results of lacrimal irrigation and degree of symptoms during follow-up.RESULTS:At the follow-up time of 15y,81 eyes achieved full success(69.8%);21 eyes got improved(18.1%);and 14 eyes were considered failure(12.1%).The success rate was 71.2%(37/52 eyes)for complicated cases;and 68.8%(44/64 eyes)for uncomplicated cases.No statistically significant difference between two groups was observed(P=0.961).No postoperative complication was observed.CONCLUSION:LDP is a well-tolerated,simple,and effective procedure with satisfactory long-term outcomes in selected patients,which make it a good alternative to conventional dacryocystorhinostomy.In addition,intubation with the self-made mono-canalicular silicone tube facilitates the management of complicated cases with few complications.展开更多
AIM:To analyze cases of obstruction of the nasolacrimal duct which creates a fertile environment for secondary bacterial Infection and can result in dacryocystitis,which is a constant threat to cornea and orbital soft...AIM:To analyze cases of obstruction of the nasolacrimal duct which creates a fertile environment for secondary bacterial Infection and can result in dacryocystitis,which is a constant threat to cornea and orbital soft tissue and a potential source of endophthalmitis following intraocular surgery.The majority of obstructions of the lacrimal excretory outflow system are acquired ones occurring in adulthood and involving the distal parts of the system.Acquired obstruction may be primary/idiopathic or secondary to a wide variety of infectious,inflammatory,traumatic,mechanical,toxic or neoplastic causes mimicking idiopathic inflammation.These cases are treated by dacryocystorhinostomy(DCR).METHODS:The present study was conducted to determine the histopathologic,immunohistochemical and current microbiologic characteristics of lacrimal sac specimens in patients undergoing external dacryocystorhinostomy.RESULTS:Non-specific lacrimal sac pathology was present in all 33 cases and 81.8%of the cases showed moderate chronic inflammation with a chronic inflammatory score(CIS)ranging between 4 and 6,whereas 12.12%showed severe inflammatory changes with a CIS of 7.Mild degree of inflammation was seen in6.06%with a CIS of 3.The total prevalence of grampositive,gram-negative,and culture-negative samples were 59.4%,37.5%,and 3%respectively.CONCLUSION:Non-specific chronic inflammation withfibrosis is indeed the most commonly reported histopathological finding in lacrimal sac wall biopsy specimens.展开更多
Schneiderian papilloma is a kind of benign tumor that generally arises in the nasal and paranasal sinus mucosa. Here we present a case of Schneiderian papilloma found in the lacrimal sac.
基金Supported by the Capital’s Funds for Health Improvement and Research (No.CFH.2020-2Z-5132)。
文摘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 frameshif t mutation in the FGF10 gene(NM_004465.1),c.234dup C(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.
基金Supported by the National Natural Science Foundation of China,Young Scientists Grant(No.81400380,No.82000862)the Fundamental Research Funds for the Central Universities of China(No.XJJ2014076,No.XZY012022117)+1 种基金Key Research and Development Program of Shaanxi,China(No.2023-YBSF-568,No.2021-SF156)the Integration Innovation Program of Xi’an Jiaotong University Health Science Center(No.YXJLRH2022037).
文摘AIM:To determine the 15-year outcomes of laser dacryoplasty(LDP)in patients with lacrimal duct obstruction;and to evaluate LDP combined with intubation using a new silicone tube to treat complicated cases.METHODS:Patients with lacrimal duct obstruction and treated with LDP between April 2000 and April 2005 were investigated retrospectively.Totally 116 eyes with completed 15-year follow-up records were included in this study.For complicated cases(52 eyes of 52 patients),both LDP and intubation using a self-made silicon tube were performed.For patients with uncomplicated obstruction(64 eyes of 61 patients),only LDP was performed.Outcomes were assessed based on results of lacrimal irrigation and degree of symptoms during follow-up.RESULTS:At the follow-up time of 15y,81 eyes achieved full success(69.8%);21 eyes got improved(18.1%);and 14 eyes were considered failure(12.1%).The success rate was 71.2%(37/52 eyes)for complicated cases;and 68.8%(44/64 eyes)for uncomplicated cases.No statistically significant difference between two groups was observed(P=0.961).No postoperative complication was observed.CONCLUSION:LDP is a well-tolerated,simple,and effective procedure with satisfactory long-term outcomes in selected patients,which make it a good alternative to conventional dacryocystorhinostomy.In addition,intubation with the self-made mono-canalicular silicone tube facilitates the management of complicated cases with few complications.
文摘AIM:To analyze cases of obstruction of the nasolacrimal duct which creates a fertile environment for secondary bacterial Infection and can result in dacryocystitis,which is a constant threat to cornea and orbital soft tissue and a potential source of endophthalmitis following intraocular surgery.The majority of obstructions of the lacrimal excretory outflow system are acquired ones occurring in adulthood and involving the distal parts of the system.Acquired obstruction may be primary/idiopathic or secondary to a wide variety of infectious,inflammatory,traumatic,mechanical,toxic or neoplastic causes mimicking idiopathic inflammation.These cases are treated by dacryocystorhinostomy(DCR).METHODS:The present study was conducted to determine the histopathologic,immunohistochemical and current microbiologic characteristics of lacrimal sac specimens in patients undergoing external dacryocystorhinostomy.RESULTS:Non-specific lacrimal sac pathology was present in all 33 cases and 81.8%of the cases showed moderate chronic inflammation with a chronic inflammatory score(CIS)ranging between 4 and 6,whereas 12.12%showed severe inflammatory changes with a CIS of 7.Mild degree of inflammation was seen in6.06%with a CIS of 3.The total prevalence of grampositive,gram-negative,and culture-negative samples were 59.4%,37.5%,and 3%respectively.CONCLUSION:Non-specific chronic inflammation withfibrosis is indeed the most commonly reported histopathological finding in lacrimal sac wall biopsy specimens.
文摘Schneiderian papilloma is a kind of benign tumor that generally arises in the nasal and paranasal sinus mucosa. Here we present a case of Schneiderian papilloma found in the lacrimal sac.