To characterize children with congenital nasolacrimal duct obstruction (NLDO) seen by a pediatric ophthalmologist in terms of initiation of tear duct massage and need for lacrimal duct probing. Retrospective chart review. All children with a diagnosis of congenital NLDO managed by one pediatric ophthalmologist (SH) at a tertiary pediatric center (McMaster Children's Hospital, Hamilton, Ontario, Canada). Charts were reviewed to determine the percentage of patients requiring nasolacrimal duct probing. Secondary outcomes were percentage of patients who had tear duct massage, accurate or inaccurate, initiated by the referring provider. Overall, 113 patients with a mean age of 1.8 ± 1.5 years at presentation were included, and 55 (48.7%) were male. Most patients (83.2%) were referred by a primary care provider (family physician or pediatrician) and the remainder by optometrists (13.3%) or ophthalmologists (3.5%). Accurate tear duct massage was initiated by referring providers in 23% of cases. Ultimately, 44.2% of cases required probing, and 4.4% were still pending follow-up at time of data collection. Of children who learned accurate massage technique, 56% avoided surgical intervention, even when proper massage is introduced after 12 months of age. Most patients referred to pediatric ophthalmology for congenital NLDO did not have an appropriate trial of tear duct massage before referral, and less than half of patients required probing after appropriate massage was initiated. Educating primary care providers and optometrists on proper initiation of tear duct massage may reduce the volume of congenital NLDO referrals to pediatric ophthalmology, a subspecialty with limited physicians and long wait times.

The purpose of this study was to identify pathogenic variants associated with congenital bony nasolacrimal duct obstruction (bony CNLDO) and to clarify genotype-phenotype correlations. In this single-center retrospective case study, children with clinically confirmed bony CNLDO and their relatives underwent detailed ophthalmic, systemic examinations, orbital computed tomography (CT), and maxillofacial magnetic resonance imaging (MRI). Whole-exome sequencing (WES) was performed on peripheral blood samples. Bioinformatics tools were utilized to predict variant pathogenicity, and classifications were performed according to the American College of Medical Genetics and Genomics (ACMG) guidelines. Thirty-two participants were included in this study, comprising six families and seven sporadic cases. WES identified 8 novel FGF10 variants, including 6 missense mutations (c.598C>G, c.316T>G, c.395T>C, c.316T>C, c.327C>G, and c.332T>G), one intronic splicing mutation (c.429+2T>A), and one heterozygous deletion at chromosome 5p12 encompassing the FGF10 gene. Two sporadic cases had no identifiable pathogenic variants. All patients with FGF10 variants exhibited syndromic aplasia of lacrimal and salivary glands (ALSGs) phenotype characterized by bony CNLDO, punctal anomalies, and hypoplasia of lacrimal, parotid, and submandibular glands. Three novel IGSF3 variants were also identified including two missense mutations (c.2872G>C and c.2531G>A) and one nonsense mutation (c.2416G>T). In contrast, individuals carrying IGSF3 variants showed isolated bony CNLDO with normal glandular morphology. Bony CNLDO is predominantly a monogenic disorder involving FGF10 or IGSF3. FGF10 mutations are associated with syndromic, multi-gland hypoplasia, whereas IGSF3 mutations result in isolated bony CNLDO. These findings enhance understanding of the genetic heterogeneity and genotype-phenotype correlations underlying bony CNLDO, with real-world implications for genetic diagnosis and counseling.

Ophthalmic screening is an important part of the medical care of children as some eye abnormalities can lead to irreversible vision loss if not treated in the first few months or years of life. The aim of this study is to evaluate the outcomes of the ophthalmic screening program in term infants aged ≤1 year who presented to a tertiary hospital in Türkiye. The records of 1,035 infants ≤1 year old who underwent ophthalmic screening between November 2019 and February 2022 were reviewed retrospectively. Demographic and medical details, parental complaints about the infants' eyes, family history of ocular, adnexal, and systemic pathologies, light reactions, red reflex test results, eye movements, blink response to light, fixation and following, noticeable strabismus, conjunctivitis, epiphora, anterior segment and fundus pathologies, and treatments applied were recorded. The referring physician (family physician, pediatrician) and reason for reference were also noted. Abnormal ophthalmological findings were detected in 136 infants (13.14%). The most common finding was congenital nasolacrimal duct obstruction (72.05%), followed by strabismus (8.82%), ptosis (4,41%), absence of following (3.67%), congenital cataract (2.94%), hemangioma of the adnexa (2.94%), nystagmus (2.94%), albino fundus (1.47%), preretinal hemorrhage (1.47%), and coloboma of the iris and choroid (1.47%). We detected abnormal red reflex in 4 infants who were not referred for red reflex abnormality by the referring physician, while another 4 infants referred for red reflex abnormality had no pathology on ocular examinations including the red reflex test. The importance of ophthalmic screening in infants is well appreciated but there are inadequacies in performing and interpreting the red reflex test among family physicians and pediatricians. Efforts should be directed at improving vision screening skills, especially red reflex testing. Çeşitli göz hastalıkları, yaşamın ilk birkaç ayı ya da yılında tedavi edilmezlerse geri dönüşü olmayan görme kaybına yol açabilmektedir. Bu nedenle göz taraması çocukların genel tıbbi muayenesinin önemli bir parçasıdır. Bu çalışmanın amacı Türkiye’de üçüncü basamak hastaneye başvuran 1 yaş ve altı term bebeklerde başvuru nedenlerini ve göz tarama programının sonuçlarını değerlendirmektir. Kasım 2019-Şubat 2022 tarihleri arasında göz taraması yapılan 1 yaş ve altı 1.035 bebeğin kayıtları geriye dönük olarak incelendi. Demografik ve medikal veriler, varsa anne-babanın bebeğinin gözüyle ilgili şikayetleri, oküler, sistemik ve adneksiyal patolojilerle ilgili aile öyküsü, ışık reaksiyonları, kırmızı refle testi, göz hareketleri, ışığa kırpma refleksi, fiksasyon, takip, strabismus, konjonktivit, sulanma, ön segment ve fundus patolojileri ile uygulanan tedaviler not edildi. Hastayı sevk eden hekim (aile hekimi, çocuk doktoru) ve sevk nedeni kaydedildi. Bebeklerin 136’sında (%13,14) anormal oftalmolojik bulgular saptandı. En sık konjenital nazolakrimal kanal tıkanıklığı (%72,05) görülürken, bunu şaşılık (%8,82), ptozis (%4,41), göz takibi olmaması (%3,67), konjenital katarakt (%2,94), adneksiyal hemanjiom (%2,94), nistagmus (%2,94), albinoid fundus (%1,47), preretinal hemoraji (%1,47) ve iris ve koroid kolobomu (%1,47) takip etmekteydi. Muayene sırasında 4 bebekte anormal kırmızı refle testi mevcut iken bu beklerin hiçbirinin sevk nedeni anormal kırmızı refle testi değildi. Ayrıca kırmızı refle patolojisi ile sevk edilen 4 bebeğin ise kırmızı refle testi dahil olmak üzere oftalmolojik muayenelerinde patoloji yoktu. Bebeklerde göz taramasının önemi çok iyi bilinmekle beraber aile hekimleri ve pediatristler arasında kırmızı refle testinin yorumlanmasında farklılıklar olabilmektedir. Bu konudaki çalışmalar özellikle kırmızı refle testinin uygulanmasının ve yorumlanmasının geliştirilmesi üzerinde yoğunlaştırılmalıdır.

The purpose of the study was to evaluate the possible relation between the mode of delivery and associated factors with congenital nasolacrimal duct obstruction (CNLDO). This case-control study was conducted on children between 6 months and 5 years with CNLDO and healthy controls. A binary logistic regression model was fitted to identify the associated factors with CNLDO and a backward elimination technique was applied for modeling. From 324 enrolled subjects, 160 were as a case (CNLDO group) and 164 were healthy control (non-CNLDO group). A positive family history of CNLDO was present in 21 (13.1%) patients with CNLDO and 3 (1.81%) controls (P < 0.001). Cesarean section was 62.9% and 64.0% in the CNLDO and controls groups, respectively (P = 0.83). Using logistic regression models, children with a positive family history were 10.12 times more likely to have CNLDO than the control group (odds ratio [OR] = 10.12, 95% confidence interval [CI] 2.838-36.069). In addition, birth weight ≤2500 g (OR = 2.39, 95% CI: (1.123-5.087)) and maternal age ≤27 years at the time of delivery (OR = 2.35, 95% CI: (1.462-3.778)) were associated with upper odds for CNLDO. There is an increase in the risk of CNLDO with a positive family history, birth weight < 2500 g, and maternal age of <27 years. However, further research is warranted to evaluate the causal relationship of these risk factors. Notably, there is no significant relationship between the mode of delivery and developing CNLDO.

To our knowledge, there are few examples of intrafamilial variability involving two different TP63-linked morphopathies within a same family. Here, we describe a Mexican family in which the son had ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3), and his father acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome, both heterozygous for the p.Arg266Gln pathogenic variant in TP63. Additionally, we reviewed the clinical information reported for this TP63 genotype. The son of this family presented ectodermal defects (thin and sparse hair, mild nail dysplasia), tetramelic ectrodactyly, syndactyly, and nasolacrimal duct obstruction (NLDO), indicative of an EEC3 diagnosis. His father, however, exhibited severe NLDO, facial freckling, dental abnormalities, mild nail dysplasia, and a history of micturition problems, compatible with ADULT syndrome. Both were heterozygous for the NM_003722.5(TP63):c.797G>A (p.Arg266Gln) pathogenic variant in TP63. This report expands the spectrum of intrafamilial variability confirming that this can include the expression of distinct types of TP63-related disorders among different members of the same family, whose implications should be also considered in genetic counseling. From our review, we observed that p.Arg266Gln variant seems to correlate particularly with the presence of NLDO, sparse hair/eyebrows, ridged/dystrophic nails, anodontia/hypodontia, and micturition difficulties, as well as for a minor frequency of cleft lip/cleft palate.