Risk factors for congenital nasolacrimal duct obstruction in children under two years of age

·AIM:To identify various risk factors that may play a significant role in the development of congenital nasolacrimal duct obstruction(CNLDO).·METHODS:This observational case-control study included a case group of 122 children less than two years of age with CNLDO who underwent probing and irrigation treatment at the ophthalmology department of Imam Khomeini Hospital in Ahvaz,Iran,from June 2022 to June2024.A control group of 122 age-matched children without CNLDO was also included for comparison.Data was collected from the children's medical records.·RESULTS:The study found a significant correlation between the occurrence of CNLDO and several maternal factors,such as preeclampsia,the use of levothyroxine,hypothyroidism,having more than three pregnancies(gravidity>3),natural pregnancy,and gestational diabetes mellitus.Additionally,in children,factors,such as oxygen therapy,anemia,reflux,jaundice,and a family history of CNLDO in first-degree relatives were associated with CNLDO,and maternal preeclampsia and hypothyroidism were found to significantly increase the risk of developing CNLDO in children.·CONCLUSION:Given that CNLDO affects both premature and full-term children,the present findings may potentially facilitate the early identification of children and infants at risk of nasolacrimal duct obstruction,thereby preventing the onset of chronic dacryocystitis.

Ultrasound features of congenital cytomegalovirus infection in the first trimester:A case report

BACKGROUND Congenital cytomegalovirus(CMV)infection represents a significant public health concern as the most prevalent viral infection in newborns,potentially leading to severe neurological and developmental complications.The majority of cases are asymptomatic and remain undetected during pregnancy due to the absence of effective screening methods.CASE SUMMARY A 27-year-old primigravida presented for early pregnancy ultrasound,which revealed an atypical finding:A normal anechoic thalamus appearing hyperechoic on the mid-sagittal view of the fetal head.Subsequent ultrasound examinations during mid and late gestation demonstrated classic intracranial features sug-gestive of congenital CMV infection.Chromosomal karyotyping and microarray analysis of the fetus yielded no significant abnormalities.Following compre-hensive prenatal counseling regarding potential adverse fetal outcomes,the patient elected to continue her pregnancy.She ultimately underwent cesarean delivery at 42 weeks gestation at another facility,resulting in the birth of a female neonate.At five months of age,the infant presented with epilepsy and significant growth and developmental delays.CONCLUSION Congenital CMV infection occurs during the first trimester may manifest as hyperechoic thalamus which can be revealed by ultrasound in the mid-saggital view of the fetal head.Future research should investigate the correlation between echogenic thalamus and developmental outcomes,as well as explore early sc-reening techniques for suspected congenital CMV infection cases.

Congenital anomalies of coronary artery misdiagnosed as coronary dilatations in Kawasaki disease:A clinical predicament

BACKGROUND 2D-echocardiography(2DE)has been the primary imaging modality in children with Kawasaki disease(KD)to assess coronary arteries.AIM To report the presence and implications of incidental congenital coronary artery anomalies that had been misinterpreted as coronary artery abnormalities(CAAs)on 2DE.METHODS Records of children diagnosed with KD,who underwent computed tomography coronary angiography(CTCA)at our center between 2013-2023 were reviewed.We identified 3 children with congenital coronary artery anomalies in this cohort on CTCA.Findings of CTCA and 2DE were compared in these 3 children.RESULTS Of the 241 patients with KD who underwent CTCA,3(1.24%)had congenital coronary artery anomalies on CTCA detected incidentally.In all 3 patients,baseline 2DE had identified CAAs.CTCA was then performed for detailed evaluation as per our unit protocol.One(11-year-boy)amongst the 3 patients had complete KD,while the other two(3.3-year-boy;4-month-girl)had incomplete KD.CTCA revealed separate origins of left anterior descending artery and left circumflex from left sinus[misinterpreted as dilated left main coronary artery(LCA)on 2DE],single coronary artery(interpreted as dilated LCA on 2DE)and dilated right coronary artery on 2DE in case of anomalous origin of LCA from the main pulmonary artery.The latter one was subsequently operated upon.CONCLUSION CTCA is essential for detailed assessment of coronary arteries in children with KD especially in cases where there is suspicion of congenital coronary artery anomalies.Relying solely on 2DE may not be sufficient in such cases,and findings from CTCA can significantly impact therapeutic decision-making.

Bilateral Congenital Upper Eyelid Eversion (Ectropion): A Rare Presentation Responded Well to Conservative Treatment at Temeke Regional Referral Hospital-Tanzania

Congenital eversion of the upper eyelids is a rare condition, the exact cause of which remains unknown. It is more frequently associated with Down’s syndrome and black babies. If diagnosed early and treated properly, the condition can be managed without surgery. We report a case of non syndromic congenital bilateral severe upper eyelid eversion in otherwise normal 3 days old neonate of African descent (Tanzanian), born by vaginal delivery. The case was conservatively managed by lubricants, antibiotics and eyelid patching. We report this case because from the best of our knowledge it has never been documented here at our hospital and Tanzania before.

Role of targeted neuromodulation in the treatment of congenital unilateral lower lip palsy:A clinical case report

Congenital unilateral lower lip palsy(CULLP),or congenital hypoplasia of the depressor anguli oris muscle,also known as asymmetric crying facies,is a rare condition that results in asymmetry of the lower lip during smiling,laughing,and crying.Although the etiology is unknown,weakness of the depressor labii inferioris(DLI)muscle is implicated as a contributing factor.Currently,no well-established treatment options are available.This case report describes an 18-year-old male patient diagnosed with CULLP.Physical examination revealed a symmetric face at rest,but asymmetry when smiling and opening the mouth.Following the administration of lidocaine into the affected DLI muscle,the patient’s smile and lower lip symmetry were immediately restored without any adverse effects.Subsequently,administration of botulinum toxin for neuromodulation of the DLI muscle led to a significant improvement in symmetry and oral function within 2 weeks,which was sustained at 1 month and 3 months post-treatment.No adverse effects were reported,and both patients and families expressed high satisfaction with the outcomes.This case highlights the potential use of neuromodulation as a minimally invasive and effective treatment for CULLP.

Effect of lens surgery on health-related quality of life in preschool children with congenital ectopia lentis

AIM:To evaluate the effect of lens surgery on health-related quality of life(HRQoL)of preschool children with congenital ectopia lentis(CEL).METHODS:A prospective self-controlled study was conducted in Zhongshan Ophthalmic Center.Children aged from 5 to 7y whom were diagnosed with CEL and underwent phacoemulsification with scleral-fixated posterior chamber intraocular lens implantation and their parents were enrolled in this study.All of them completed the child and proxy(parental)PedsQL™4.0 before and after the surgery.Their preoperative scores were compared to their postoperative ones.Subgroup analyses were performed based on gender and preoperative bilateral presenting visual acuity of the children.RESULTS:Thirty-two children with CEL successfully underwent surgery without any complications,among whom 8 had monocular surgery and 24 had binocular surgery.Preoperative and postoperative questionnaires were completed by 32 child-parent pairs.Surgical intervention could significantly improve the vision of affected children(P<0.001).The medians of physical,psychosocial and total health scores self-reported by the children were 68.75(62.50,81.25),65.00(60.00,80.00)and 67.39(60.87,78.26)preoperatively and were 93.75(87.50,100.00),90.00(83.33,96.67)and 89.13(85.32,95.65)postoperatively.The preoperative scores of the affected children were significantly lower in all scales than age-matched healthy children(P<0.001).All the postoperative scores were significantly higher than the preoperative scores in affected children and their parents(P<0.001).In the physical functioning evaluation,the preoperative score reported by parents of girls was higher than parents of boys(P=0.041),and the postoperative score of girls was higher than that of boys(P=0.036).CONCLUSION:CEL is associated with significantly worse quality of life in preschool children.Surgical intervention can significantly improve the HRQoL in affected children from both personal and family perspective.

Association of Congenital Heart Defects (CHD) with Factors Related to Maternal Health and Pregnancy in Newborns in Puerto Rico

Background:Given the pervasive issues of obesity and diabetes both in Puerto Rico and the broader United States,there is a compelling need to investigate the intricate interplay among body mass index(BMI),pregesta-tional,and gestational maternal diabetes,and their potential impact on the occurrence of congenital heart defects(CHD)during neonatal development.Methods:Using the comprehensive System of Vigilance and Surveillance of Congenital Defects in Puerto Rico,we conducted a focused analysis on neonates diagnosed with CHD between 2016 and 2020.Our assessment encompassed a range of variables,including maternal age,gestational age,BMI,pregestational diabetes,gestational diabetes,hypertension,history of abortion,and presence of preeclampsia.Results:A cohort of 673 patients was included in our study.The average maternal age was 26 years,within a range of 22 to 32 years.The mean gestational age measured 39 weeks,with a median span of 38 to 39 weeks.Of the 673 patients,274(41%)mothers gave birth to neonates diagnosed with CHD.Within this group,22 cases were linked to pre-gestational diabetes,while 202 were not;20 instances were associated with gestational diabetes,compared to 200 without;and 148 cases exhibited an overweight or obese BMI,whereas 126 displayed a normal BMI.Conclusion:We identified a statistically significant correlation between pre-gestational diabetes mellitus and the occurrence of CHD.However,our analysis did not show a statistically significant association between maternal BMI and the likelihood of CHD.These results may aid in developing effective strategies to prevent and manage CHD in neonates.

Viscocanalostomy combined with trabeculotomy and mitomycin C in the treatment of primary congenital glaucoma

AIM： To evaluate the long-term outcome of viscocanalostomy combined with trabeculotomy and mitomycin C in the treatment of primary congenital glaucoma. METHODS： This is a retrospective study. Forty-two eyes of 26 patients with primary congenital glaucoma were enrolled, Intraocular pressure （lOP）, corneal diameter （mm） and cup/disc （C/D） were measured before and after the surgery respectively. Follow-up period was 30mo. RESULTS： The mean preoperative lOP was 30.6：1：7.35 mm Hg. Of the 42 eyes, 2 eyes were required conversion to trabeculectomy for the absence of Schlemm＇s canal. Of remained 40 eyes, 38 eyes （95%） achieved successful lOP control. The average postoperative lOP was 11.69±4.18 mm Hg at 12mo. The mean reduction was 18.91 mm Hg （P〈0.00Ol）. Eighteen （75%） eyes presented a reduction in corneal diameter, and 25 （62.5%） eyes presented a C/D ratio reversal after the surgery. There was no serious complication in any patients over the follow-up period. CONCLUSION： Viscocanalostomy combined with trabeculotomy and mitomycin C is useful in the management of primary congenital glaucoma,

A comparison between monocanalicular and pushed monocanalicular silicone intubation in the treatment of congenital nasolacrimal duct obstruction

AIM: To compare the success rate of monocanalicular versus pushed monocanalicular silicone intubation(PMCI)of the nasolacrimal duct for congenital nasolacrimal duct obstruction(CNLDO).METHODS: In a prospective randomized clinical trial 53 eyes of 49 patients with CNLDO underwent either monocanalicular silicone intubation(MCI)(n =28 eyes) or PMCI(n =25 eyes). All procedures were performed by 1oculoplastic surgeon. Treatment success was defined as the complete resolution of epiphora at 3mo after tube removal.RESULTS: The surgical outcome was assessed in 20 eyes with MCI and 20 eyes with PMCI. The mean age of treatment was 26.25 ±10.08mo(range, 13-49mo) for MCI and 26.85±12.25mo(range, 16-68mo) for PMCI. Treatment success was achieved in 18 of 20 eyes(90.0%) in the MCI group compared with 10 of 20 eyes(50%) in the PMCI group(P =0.01). In the PMCI group, the tube loss(30%)was greater than the MCI group(5%), however the differences between the 2 groups proved to be not significant(P =0.91).CONCLUSION: Our results indicate that MCI has higher success rate in CNLDO treatment compared with PMCI in this small series of patients.

Treatment and follow-up of children with transient congenital hypothyroidism

Objective： To study the clinical therapy and prognosis in children with transient congenital hypothyroidism （CH）. Methods： Fifty-seven children with CH diagnosed after neonatal screening were treated with low-dosage levothyroxine （L-T4）. Follow-up evaluation included the determination of TT3, TT4 and TSH serum levels and the assessment of thyroid gland morphology, bone age, growth development and development quotients （DQ）. A full check-up was performed at age 2, when the affected children first discontinued the L-T4 treatment for 1 month, and one year later. Development quotients were compared with a control group of 29 healthy peers. Results： The initial L-T4 dosage administered was 3.21-5.81μg/（kg·d） with an average of （16.25±3.87）μg/d. Mean duration of therapy was （28.09±9.56） months. No significant difference was found between study group and control group in the DQ test （average score （106.58±14.40） vs （102.4±8.6）, P〉0.05） and 96.49% of the CH children achieved a test score above 85. Bone age, 99mTc scans and ultrasonographic findings were all normal, and evaluation of physical development was normal too, as were the serum levels of TT3, TT4 and TSH after one year of follow-up. Conclusion： AL-T4 dosage of 3.21-5.81μg/（kg·d） was found sufficient for the treatment of transient CH. The treated children showed satisfactory overall mental and physical development at age 2. So it is possible for CH children to stop taking medicine if their laboratory findings and physical development are all normal after regular treatment and 2-3 years of follow-up.

Endoscopic radial incision and cutting method for adult congenital duodenal webs:A case report

BACKGROUND Congenital duodenal webs are rare in adults and can lead to various symptoms such as nausea,vomiting,and postprandial fullness.The treatment for this disease is mostly surgical.Endoscopic treatment techniques have been developed and attempted for this disease.Endoscopic radial incision and cutting(RIC)techniques are reportedly very effective in benign anastomotic stricture.This case report highlights the effectiveness and safety of endoscopic RIC as a minimally invasive treatment for adult congenital duodenal webs.CASE SUMMARY A 23-year-old female patient with indigestion was referred to a tertiary hospital.The patient complained of postprandial fullness in the epigastric region.Previous physical examinations or blood tests indicated no abnormalities.Computed tomography revealed an eccentric broad-based delayed-enhancing mass-like lesion in the second portion of the duodenum.Endoscopy showed an enlarged gastric cavity and a significantly dilated duodenal bulb;a very small hole was observed in the distal part of the second portion,and scope passage was not possible.Gastrografin upper gastrointestinal series was performed,revealing an intraduodenal barium contrast-filled sac with a curvilinear narrow radiolucent rim,a typical"windsock"sign.Endoscopic RIC was performed on the duodenal web.The patient recovered uneventfully.Follow-up endoscopy showed a patent duodenal lumen without any residual stenosis.The patient reported complete resolution of symptoms at the 18-month follow-up.CONCLUSION Endoscopic RIC may be an effective treatment for congenital duodenal webs in adults.

Congenital penile curvature: long-term results of operative treatment using the plication procedure

Aim: To determine the long-term outcome, effectiveness and patient satisfaction of congenital penile curvature correction by plication of tunica albuginea. Methods: From January 1992 to January 2002, 106 young patients underwent surgical correction of congenital penile curvature by corporeal plication. Indications for operation were difficult or impossible vaginal penetration and cosmetic problems. The technique of corporeal plication consists of placing longitudinal plication sutures of 2-zero braided polyester on the convex side of the curvature until the curvature is corrected when erection is artificially induced. Results of this procedure were obtained by retrospective chart reviews and questionnaires via mail. Long-term follow-up ranged from 11 to 132 (mean 69.3) months and data were available for 68 patients. Results: Penile straightening was excellent in 62 patients (91 %) and good with less than 15 degree of residual curvature in 6 patients (9 %). Sixty-seven patients reported no change in erectile rigidity or maintenance postoperatively, while 1 described early detumescence. Shortening of the penis without functional problems was noted by 26 patients (38 %). Thirty-Five patients (51 %) reported feeling palpable indurations (suture knots) on the penis. Temporary numbness of glans penis was described in 3 patients. Overall, 60 patients were very satisfied, 6 satisfied, 2 unsatisfied. Conclusion: Corporeal plication is an effective and durable procedure with a high rate of patient satisfaction.

Congenital Hernia of the Diaphragmatic Dome with Neonatal Revelation, Experience from the Neonatology and Neonatal Intensive Care Unit at the University Hospital Center of Oujda

Congenital hernia of the diaphragmatic dome (CHDD) is an embryonic malformation in which all or part of the diaphragmatic dome fails to develop properly. In the majority of cases (80% to 90%), this malformation affects the left posterolateral part of the diaphragm, while in 10% to 15% of cases it affects the right. Bilateral cases are extremely rare, accounting for less than 1% of cases. This malformation is estimated to occur at a frequency of around 1 in 3500 births, with a male predominance. The diaphragmatic defect causes the abdominal organs to rise into the thoracic cavity during critical phases of lung development. These anomalies result in bilateral pulmonary hypoplasia, a reduced number of pulmonary vessels, and pulmonary arterial hypertension (PAH). The combination of these anatomical and functional anomalies, in varying degrees, explains the wide variability of symptoms at birth. Diagnosis is usually made prenatally by ultrasound, which enables severe forms of the disease to be detected and appropriate management initiated. The prognosis remains generally grave, with a neonatal mortality rate of between 30% and 60% depending on the study, and around half of all children will have long-term sequelae.

Long-Term Mortality of Children with Congenital Heart Disease Admitted to the Departmental University Hospital of Borgou/Alibori from 2011 to 2022

Background: Congenital heart disease is a public health issue due to its incidence and mortality rate. The aim of this study was to investigate the long-term mortality of children with congenital heart disease admitted to the Departmental University Hospital of Borgou/Alibori (CHUD-B/A) from 2011 to 2022. Methods: This descriptive longitudinal study with analytical aims covered 11 years (April 1, 2011 to December 31, 2022). It consisted of a review of the records of children under 15 years of age with echocardiographically confirmed congenital heart disease. This was followed by an interview with the parents to assess the children’s current condition. Data were entered using Kobocollect software and analyzed using R Studio 4.2.2. software. Results: A total of 143 complete files were retained. The median age at diagnosis was 14 months (IIQ: Q1 = 4;Q3 = 60) with a range of 2 days and 175 months, and the sex-ratio (M/F) was 0.96. Left-to-right shunts were the most frequent cardiopathy group (62.9%). Only 35 children (24.5%) benefited from restorative treatment. The mortality rate was 31.5%. Median survival under the maximum bias assumption was 114 months and 216 months under the assumption of minimum bias. Survival was significantly better in children with right-to-left shunts (p = 0.0049) under the assumption of minimum bias. The death risk factors were: age at diagnosis less than 12 months (aHR = 7.58;95% CI = 3.36 - 17.24;p Conclusion: The long-term mortality of congenital heart disease is high and favoured by the absence of restorative treatment. Local correction of congenital heart disease and medical follow-up will help to reduce this mortality.

Diagnosis and treatment discussion of congenital factor VII deficiency in pregnancy:A case report

BACKGROUND Congenital factor VII deficiency(FVIID)is a rare autosomal recessive genetic disorder.The clinical manifestations of this deficiency vary greatly.Predicting the risk of bleeding during and after childbirth of pregnant women with congenital FVIID is difficult.Recombinant factor VIIa is the most common replacement therapy for FVIID.However,no unified diagnosis and treatment plan for pregnant women with congenital FVIID has been established.CASE SUMMARY We report the clinical history of a pregnant woman who was considered to have congenital FVIID.Recombinant factor VIIa was prophylactically administered to the pregnant woman at the time of cervical fully opening.She successfully delivered a live infant without any complications,such as postpartum hemorrhage,neonatal abnormalities,and so on.CONCLUSION Prophylaxis of recombinant factor VIIa during delivery can effectively reduce the incidence of postpartum hemorrhage among pregnant women with congenital FVIID associated with a high risk of bleeding.

Surgical Treatment for Complications of Congenital Retinoschisis

This study examined the clinical features of complications of congenital retinoschisis and the clinical efficacy of vitreoretinal surgery in the treatment of these complications.The clinical efficacy of surgical treatments was retrospectively analyzed in 10 patients with congenital retinoschisis（10 eyes） complicated with rhegmatogenous retinal detachment（n=5）,vitreous hemorrhage（n=2） and macula-involving schisis（n=1）.All the patients suffered foveal and peripheral schisis.They were treated with scleral buckling（n=1） or vitrectomy（n=9）.After the surgical treatment,the retina was reattached in patients with rhegmatogenous retinal detachment;the refractive media became transparent in those with vitreous hemorrhage;the visual acuity in 80% of patients was improved;no remarkable progression of schisis was found;no severe operative complications occurred.It was concluded that vitreoretinal surgery in the treatment of complications of congenital retinoschisis is safe and effective,and helps improve and maintain the visual function.

Congenital Heart Disease Referred for Surgery: Analysis and Epidemiological Description in the Cardiology Department of CHU Ignace Deen

Introduction: Congenital heart disease includes all cardiac and vascular malformations. It accounts for approximately one third of all congenital malformations and is a public health problem, particularly in developing countries. The aim of this study was to analyze the epidemiological, clinical and paraclinical aspects of congenital heart disease. Methods: This was a retrospective descriptive and analytical study based on the records of 135 patients referred for surgery and followed up in the cardiology department of the Ignace Deen University Hospital, collected in November 2022. Results: Hospital prevalence was 5%. The mean age was 71 months, ranging from 1 month to 19 years. The age group over 24 months was the most represented (62%). The M/F sex ratio was 1.36. Urban origin was predominant (58%). The rate of children not attending school or dropping out was high (16%). Siblings with fewer than 4 children were the most common (88%). A heart murmur was the most frequent sign (78%), followed by cyanosis (36%) and heart failure (29%). The association between heart murmurs and CHD was proven with a p-value Conclusion: CHDs represent the main indication for paediatric cardiac surgery and follow-up (95%). We stress the importance of implementing a screening and management strategy for congenital heart disease.

Factors Associated with Children’s Death Due to Congenital Heart Disease in Two National Hospitals of Niamey

Introduction: Congenital heart disease is a major cause of children’s death. In Niger, despite the frequency of these pathologies, very few studies have been carried out on associated mortality in a paediatric environment. The objective of this work was to look for the risk factors of children with congenital heart disease’s death in Niamey. Patients and Method: It is about a cross-sectional study for descriptive and analytical purposes in children aged from 0 to 15 years. Carriers of congenital heart disease followed from January 2016 to July 2021 in two national hospitals in Niamey. The variable depends and the main ante was the occurrence of deaths (yes or no). The explanatory variables were related to the characteristics of the patients, the type of heart disease and management among others. Chi’s tests2 Pearson’s or Fischer’s exact test were used (P Results: During the period of the research, 514 cases of congenital heart disease were studied, including 132 deaths (25.68%). The average age of patients was 14.64 months [10 days - 15 years]. The sex ratio was 1.08. The most common reason for consultation was respiratory distress that was found in 74.90% of patients. Interventricular communication (IVC) and intear communication (CIA) were the most found type of heart disease with 36.53% and 20.44% of cases respectively. Only 9.54% of patients (n = 48) had received surgical management. The risk factors associated with mortality were pulmonary arterial hypertension (54.17%), pulmonary disease (44.55%) and the presence of anemia (63.16%) [OR > 1;p Conclusion: Congenital heart diseases remain an important cause of death among children in Niger. The pulmonary arterial hypertension and the associated comorbidities such as broncho-pulmonary diseases were the main associated factors. In the meantime, an optimal technical management of these factors will help to reduce this mortality.

Classification of congenital cataracts based on multidimensional phenotypes and its association with visual outcomes

●AIM:To establish a classification for congenital cataracts that can facilitate individualized treatment and help identify individuals with a high likelihood of different visual outcomes.●METHODS:Consecutive patients diagnosed with congenital cataracts and undergoing surgery between January 2005 and November 2021 were recruited.Data on visual outcomes and the phenotypic characteristics of ocular biometry and the anterior and posterior segments were extracted from the patients’medical records.A hierarchical cluster analysis was performed.The main outcome measure was the identification of distinct clusters of eyes with congenital cataracts.●RESULTS:A total of 164 children(299 eyes)were divided into two clusters based on their ocular features.Cluster 1(96 eyes)had a shorter axial length(mean±SD,19.44±1.68 mm),a low prevalence of macular abnormalities(1.04%),and no retinal abnormalities or posterior cataracts.Cluster 2(203 eyes)had a greater axial length(mean±SD,20.42±2.10 mm)and a higher prevalence of macular abnormalities(8.37%),retinal abnormalities(98.52%),and posterior cataracts(4.93%).Compared with the eyes in Cluster 2(57.14%),those in Cluster 1(71.88%)had a 2.2 times higher chance of good best-corrected visual acuity[<0.7 logMAR;OR(95%CI),2.20(1.25–3.81);P=0.006].●CONCLUSION:This retrospective study categorizes congenital cataracts into two distinct clusters,each associated with a different likelihood of visual outcomes.This innovative classification may enable the personalization and prioritization of early interventions for patients who may gain the greatest benefit,thereby making strides toward precision medicine in the field of congenital cataracts.

Publication trends of Leber congenital amaurosis researches:a bibliometric study during 2002-2022

AIM:To analyze the changes in scientific output relating to Leber congenital amaurosis(LCA)and forecast the study trends in this field.METHODS:All of the publications in the field of LCA from 2002 to 2022 were collected from Web of Science(WOS)database.We analyzed the quantity(number of publications),quality(citation and H-index)and development trends(relative research interest,RRI)of published LCA research over the last two decades.Moreover,VOSviewer software was applied to define the co-occurrence network of keywords in this field.RESULTS:A total of 2158 publications were ultimately examined.We found that the focus on LCA kept rising and peaked in 2015 and 2018,which is consistent with the development trend of gene therapy.The USA has contributed most to this field with 1162 publications,56674 citations and the highest H-index value(116).The keywords analysis was divided into five clusters to show the hotspots in the field of LCA,namely mechanism-related,genotype-related,local phenotype-related,system phenotype-related,and therapy-related.We also identified gene therapy and antiretinal degeneration therapy as a major focus in recent years.CONCLUSION:Our study illustrates historical research process and future development trends in LCA field.This may help to guide the orientation for further clinical diagnosis,treatment and scientific research.