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OBJECTIVE: To determine whether Xanthelasma palpebrarum (XP) is associated with dyslipidemia, cardiovascular disease (CVD) and other systemic conditions in a large population. DESIGN: Case-control study conducted at a single tertiary care center. PARTICIPANTS: Individuals who were examined at a medical screening institute from 2001 to 2020. METHODS: Medical records were reviewed to extract data on ophthalmic evaluations, blood tests, and systemic diagnoses. Patients identified with XP in at least one eye comprised the study group. A control group without XP was established matched by age and sex at a 10:1 ratio to allow robust statistical analysis. MAIN OUTCOME MEASURES: Associations between XP and dyslipidemia and CVD. Lipid profiles, diagnosis of dyslipidemia and CVD were compared between the case and control groups. RESULTS: The database included 35,452 individuals, 24,287 males (69%), mean age 52.2±12.2 years. The study population included 203 XP patients (0.6%) and 2030 matched controls. The prevalence of dyslipidemia diagnosis and the usage rates of statins, fibrates, or other cholesterol-lowering medications was similar between the two groups. Lipid profiles were similar between the groups, including median total cholesterol, high-density lipoprotein, low-density lipoprotein, and triglyceride levels (187 controls vs. 192 XP, 48 controls vs. 47 XP, 120 controls vs. 125 XP, 111 controls vs. 105 XP, respectively, P>0.05 for all). The rate of CVD was similar as well (10% controls vs. 8.9%, XP P=0.56). The prevalences of related conditions, including hypertension, diabetes mellitus, and history of cerebrovascular accident, were similar between groups (24% controls vs. 23% XP, 14% controls vs. 10% XP, 1.3% controls vs. 1% XP, respectively P>0.05). CONCLUSIONS: XP was not associated with increased rates of dyslipidemia or CVD. This questions the extent to which XP serves as an indicative marker for heightened systemic risk.
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INTRODUCTION: Our aim was to explore the impact of various systemic and ocular findings on predicting the development of glaucoma. METHODS: Medical records of 37,692 consecutive patients examined at a single medical center between 2001 and 2020 were analyzed using machine learning algorithms. Systemic and ocular features were included. Univariate and multivariate analyses followed by CatBoost and Light gradient-boosting machine prediction models were performed. Main outcome measures were systemic and ocular features associated with progression to glaucoma. RESULTS: A total of 7,880 patients (mean age 54.7 ± 12.6 years, 5,520 males [70.1%]) were included in a 3-year prediction model, and 314 patients (3.98%) had a final diagnosis of glaucoma. The combined model included 185 systemic and 42 ocular findings, and reached an ROC AUC of 0.84. The associated features were intraocular pressure (48.6%), cup-to-disk ratio (22.7%), age (8.6%), mean corpuscular volume (MCV) of red blood cell trend (5.2%), urinary system disease (3.3%), MCV (2.6%), creatinine level trend (2.1%), monocyte count trend (1.7%), ergometry metabolic equivalent task score (1.7%), dyslipidemia duration (1.6%), prostate-specific antigen level (1.2%), and musculoskeletal disease duration (0.5%). The ocular prediction model reached an ROC AUC of 0.86. Additional features included were age-related macular degeneration (10.0%), anterior capsular cataract (3.3%), visual acuity (2.0%), and peripapillary atrophy (1.3%). CONCLUSIONS: Ocular and combined systemic-ocular models can strongly predict the development of glaucoma in the forthcoming 3 years. Novel progression indicators may include anterior subcapsular cataracts, urinary disorders, and complete blood test results (mainly increased MCV and monocyte count).
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Catarata , Glaucoma , Masculino , Humanos , Adulto , Persona de Mediana Edad , Anciano , Glaucoma/diagnóstico , Ojo , Presión Intraocular , Tonometría Ocular , Catarata/complicacionesRESUMEN
PURPOSE: To investigate whether patients with craniosynostosis exhibit higher rates of nasolacrimal duct obstruction (NLDO) and to explore potential risk factors. METHODS: Retrospective review including all craniosynostosis patients treated at both the Divisions of Ophthalmology and Plastic, Reconstructive, and Oral Surgery at The Children's Hospital of Philadelphia between 2009 and 2020 was conducted. Synostosis characteristics, lacrimal disorders, and genetic data were collected. Main outcome measures were the rate of NLDO and associations with anatomical and syndromic/genetic risk factors. RESULTS: The total of 767 participants had a mean age of 2.8 ± 3.8 years, 465 (60.6%) were males, 485 (63.2%) had no syndromic association; 631 (82.3%) had one major suture involved, 128 (17%) had involvement of 2 to 4 major sutures, and 429 (55.9%) underwent craniofacial surgery. Forty-eight (6.2%) patients had NLDO, which more prevalent in the genetic/syndromic group (11.0% vs. 3.5%, respectively, p < 0.001), with the highest prevalence observed in patients with Apert syndrome (n = 4, 30.8%). The genetic variants most associated with NLDO were EFNB1 (n = 1, 100%) and FGFR2 (n = 6, 19.4%). There was no association between NLDO and the number or types of sutures involved or a history of craniofacial surgery. CONCLUSIONS: Nasolacrimal duct obstruction is more common in patients with craniosynostosis compared to the general population. Having a putative syndrome or a putative genetic variant and female sex were risk factors for NLDO. Ophthalmic evaluations for all craniosynostosis patients and careful assessments of any symptoms of tearing are recommended.
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OBJECTIVE: The architecture of the orbital cavity is intricate, and precise measurement of its growth is essential for managing ocular and orbital pathologies. Most methods for those measurements are by CT imaging, although MRI for soft tissue assessment is indicated in many cases, specifically pediatric patients. This study introduces a novel semiautomated MRI-based approach for depicting orbital shape and dimensions. DESIGN: A retrospective cohort study. PARTICIPANTS: Patients with at least 1 normal orbit who underwent both CT and MRI imaging at a single center from 2015 to 2023. METHODS: Orbital dimensions included volume, horizontal and vertical lengths, and depth. These were determined by manual segmentation followed by 3-dimensional image processing software. MAIN OUTCOME MEASURES: Differences in orbital measurements between MRI and CT scans. RESULTS: Thirty-one patients (mean age 47.7 ± 23.8 years, 21 [67.7%]) females, were included. The mean differences in delta values between orbital measurements on CT versus MRI were: volume 0.03 ± 2.01 ml, horizontal length 0.53 ± 2.12 mm, vertical length, 0.36 ± 2.53 mm, and depth 0.97 ± 3.90 mm. The CT and. MRI orbital measurements were strongly correlated: volume (r = 0.92, p < 0.001), horizontal length (r = 0.65, p < 0.001), vertical length (r = 0.57, p = 0.001), and depth (r = 0.46, p = 0.009). The mean values of all measurements were similar on the paired-samples t test: p = 0.9 for volume (30.86 ± 5.04 ml on CT and 30.88 ± 4.92 ml on MRI), p = 0.2 for horizontal length, p = 0.4 for vertical length, and p = 0.2 for depth. CONCLUSIONS: We present an innovative semiautomated method capable of calculating orbital volume and demonstrating orbital contour by MRI validated against the gold standard CT-based measurements. This method can serve as a valuable tool for evaluating diverse orbital processes.
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BACKGROUND: Meibomian gland dysfunction (MGD) causes significant patient morbidity as well as economic burden. OBJECTIVES: To evaluate a novel eyelid warming and a neuro-stimulating device that delivers heat via low-level infrared radiation to the eyelids of patients with MGD. METHODS: In this prospective interventional study, patients with MGD were recruited at a single medical center. The main outcome measures included changes in tear break-up time (TBUT), Schirmer's test, and Ocular Surface Disease Index (OSDI), overall satisfaction, and corneal signs of dry eye. Patients were instructed to use the device twice daily for 5 minutes on each eye for a total of 14 days. Follow-up assessments were performed after the 2-week treatment. RESULTS: A total of 10 patients were included; mean age was 67 ± 16 years; six males (60%). Changes in pre- vs. post-treatment TBUT (5.0-6.11), OSDI (28.1-23.9), and Schirmer score (8.67-7.11) were not statistically significant. Over a course of 243 treatments, 131 (54%) demonstrated improvement in symptoms, 40% found no change, and 6% experienced worsening of symptoms. General satisfaction was observed overall in 80% of the patients. No adverse events were observed. CONCLUSIONS: In this first study of a novel eyelid warming device, overall subjective satisfaction was reported in 80% of patients. Potential advantages of this user-friendly device include its ability to improve MGD and tear film stability, as well as symptomatic relief, while allowing the user to continue with normal daily functioning while undergoing treatment.
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Enfermedades de los Párpados , Disfunción de la Glándula de Meibomio , Masculino , Humanos , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Disfunción de la Glándula de Meibomio/terapia , Glándulas Tarsales , Enfermedades de los Párpados/terapia , Enfermedades de los Párpados/diagnóstico , Estudios Prospectivos , CalorRESUMEN
PURPOSE: To examine the ophthalmic data from a large database of people attending a general medical survey institute, and to investigate ophthalmic findings of the eye and its adnexa, including differences in age and sex. METHODS: Retrospective analysis including medical data of all consecutive individuals whose ophthalmic data and the prevalences of ocular pathologies were extracted from a very large database of subjects examined at a single general medical survey institute. RESULTS: Data were derived from 184,589 visits of 3676 patients (mean age 52 years, 68% males). The prevalence of the following eye pathologies were extracted. Eyelids: blepharitis (n = 4885, 13.3%), dermatochalasis (n = 4666, 12.7%), ptosis (n = 677, 1.8%), ectropion (n = 73, 0.2%), and xanthelasma (n = 160, 0.4%). Anterior segment: pinguecula (n = 3368, 9.2%), pterygium (n = 852, 2.3%), and cataract or pseudophakia (n = 9381, 27.1%). Cataract type (percentage of all phakic patients): nuclear sclerosis (n = 8908, 24.2%), posterior subcapsular (n = 846, 2.3%), and capsular anterior (n = 781, 2.1%). Pseudophakia was recorded for 697 patients (4.6%), and posterior subcapsular opacification for 229 (0.6%) patients. Optic nerve head (ONH): peripapillary atrophy (n = 4947, 13.5%), tilted disc (n = 3344, 9.1%), temporal slope (n = 410, 1.1%), ONH notch (n = 61, 0.2%), myelinated nerve fiber layer (n = 94, 0.3%), ONH drusen (n = 37, 0.1%), optic pit (n = 3, 0.0%), and ON coloboma (n = 4, 0.0%). Most pathologies were more common in males except for ONH, and most pathologies demonstrated a higher prevalence with increasing age. CONCLUSIONS: Normal ophthalmic data and the prevalences of ocular pathologies were extracted from a very large database of subjects seen at a single medical survey institute.
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Catarata , Seudofaquia , Adulto , Masculino , Humanos , Persona de Mediana Edad , Femenino , Prevalencia , Estudios Retrospectivos , Nervio ÓpticoRESUMEN
Intellectual disability with or without manifestations of autism and/or epilepsy affects 1-2% of the population, and it is estimated that more than 30-50% of these cases have a single genetic cause. More than 1000 genes and recurrent chromosomal abnormalities are involved in these genetic forms of neurodevelopmental disorders, which often remain insufficiently described in terms of clinical spectrum, associated medical problems, etc., due to their rarity and the often-limited number of patients' phenotypes reported. GenIDA is an international online participatory database that aims to better characterise the clinical manifestations and natural histories of these rare diseases. Clinical information is reported by parents of affected individuals using a structured questionnaire exploring physical parameters, cognitive and behavioural aspects, the presence or absence of neurological disorders or problems affecting major physiological functions, as well as autonomy and quality of life. This strengthens the implication in research of the concerned families. GenIDA aims to construct international cohorts of significant size of individuals affected by a given condition. As of July 2022, GenIDA counts some 1545 documented patient records from over 60 nationalities and collaborates with clinicians and researchers around the world who have access to the anonymized data collected to generate new, medically meaningful information to improve patient care. We present the GenIDA database here, together with an overview of the possibilities it offers to affected individuals, their families, and professionals in charge of the management of genetic forms of neurodevelopmental disorders. Finally, case studies of cohorts will illustrate the usefulness of GenIDA.
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Trastorno Autístico , Discapacidad Intelectual , Trastornos del Neurodesarrollo , Humanos , Calidad de Vida , Trastornos del Neurodesarrollo/genética , Discapacidad Intelectual/genéticaRESUMEN
PURPOSE: Our aim was to describe a rare mild complication of eyelid surgery presenting as transient hyperpigmentation along the suture lines. METHODS: A retrospective case series of 6 patients experiencing transient hyperpigmentation following eyelid surgery. Each patient underwent either blepharoplasty alone or blepharoplasty with ptosis repair utilizing Müller muscle conjunctival resection. Data including surgery type, hyperpigmentation laterality and location, time to diagnosis, follow-up time, and outcome were assessed. RESULTS: All 6 patients with hyperpigmentation were females. All patients underwent blepharoplasty, including 1 upper eyelid blepharoplasty and 4 with both upper and lower eyelid blepharoplasty. One patient underwent bilateral upper blepharoplasty with concurrent posterior approach ptosis surgery repair of the left upper eyelid. Hyperpigmentation was bilateral in all 5 blepharoplasty cases and unilateral in the ptosis repair case. Hyperpigmentation included the medial portion of the operated upper eyelid in all cases. Time to diagnosis ranged from 1 to 4 weeks postoperatively, and follow-up time ranged from 3 to 5 months. Management was conservative in all cases. Five patients experienced complete resolution, and 1 patient experienced near-complete resolution on a 3-month follow-up. CONCLUSIONS: Transient hyperpigmentation is a rare posteyelid surgery complication, generally with an excellent outcome not requiring additional intervention.
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PURPOSE: Congenital Nasolacrimal duct obstruction (CNLDO) is a relatively common problem in children with Down syndrome (DS). Probing and irrigation (PI) with monocanalicular stent intubation may be less successful than in non-DS patients, thus raising some concerns regarding the preferred treatment in this population. We aimed to analyze the surgical outcome of PI along with monocanalicular stent intubation in children with DS compared with non-DS patients. METHODS: Retrospective cohort study. Thirty-five eyes of 19 children with DS and 1,472 eyes of 1,001 children without DS underwent PI-monocanalicular stent intubation as a primary treatment for CNLDO. All patients were operated on by a single surgeon at the Children's Hospital of Philadelphia between 2009 and 2020. The main outcome measure was a surgical success, defined as the resolution of symptoms after surgery. RESULTS: A total of 1,020 patients were included, 48% females; mean age of 1.9 ± 1.4 years. The mean follow-up time was 35.0 months. The DS patients group consisted of 19 patients. Higher rates of right nasolacrimal duct obstruction and bilateral obstructions were observed in the DS group (100% vs. 73.2%; p = 0.006, and 84.2% vs. 46.8%; p = 0.001, respectively). Patients with DS had a lower success rate (57.1% vs. 92.4%; p < 0 .0001). The median time to failure was 3.1 months in the DS group, and 5.2 months in the group of patients without DS. The hazard ratio comparing DS to the no-DS outcome was 6.6 (95% CI: 3.2-13.7; p < 0.001). CONCLUSIONS: CNLDO in DS is more likely to be bilateral and less likely to resolve after primary monocanalicular stent placement.
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Dacriocistorrinostomía , Síndrome de Down , Obstrucción del Conducto Lagrimal , Conducto Nasolagrimal , Femenino , Niño , Humanos , Lactante , Preescolar , Masculino , Conducto Nasolagrimal/cirugía , Obstrucción del Conducto Lagrimal/etiología , Síndrome de Down/complicaciones , Síndrome de Down/cirugía , Estudios Retrospectivos , Resultado del Tratamiento , Dacriocistorrinostomía/efectos adversos , Intubación/efectos adversos , Stents/efectos adversosRESUMEN
OBJECTIVE: To examine the efficacy and safety of medical cannabis in benign essential blepharospasm (BEB). METHODS: This is a prospective, double-blind, placebo-controlled study. All consecutive adult BEB patients who had been treated with BTX-A injections without success between 3/2019 and 2/2020 were recruited. The study patients were randomly allocated into a treatment and a control (placebo) group in a 1:1 ratio. The treatment group used cannabis drops and the control group used cannabis oil drops during the first 6 weeks of the study, and both groups were treated with the medical cannabis drops during the second 6 weeks. The cannabis dose was gradually increased for each patient depending upon effect and tolerability. RESULTS: Three patients were included in each group (treatment and control groups). The mean duration of spasm attack during the first 6 weeks was 4.29 min in the treatment group and 73.9 min in the placebo group (P < 0.01). During the last 6 weeks, the treatment group used an average of 6.27 drops and the placebo group used an average of 5.36 drops (P = 0.478). There were 61 spasm events in the treatment group and 94 spasm events in the placebo group (P = 0.05). The mean duration of spasm attack was 1.77 and 8.96 min, respectively (P < 0.01). The side effects were mild, and they included general fatigue, dry mouth, and insomnia. CONCLUSIONS: Medical cannabis can be an effective and safe treatment for BEB as a second line after BTX-A injections when used for 3 months. No significant ocular or systemic side effects was associated with the treatment.
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Toxinas Botulínicas Tipo A , Marihuana Medicinal , Fármacos Neuromusculares , Adulto , Blefaroespasmo , Humanos , Marihuana Medicinal/uso terapéutico , Fármacos Neuromusculares/uso terapéutico , Proyectos Piloto , Estudios Prospectivos , EspasmoRESUMEN
BACKGROUND: Frontalis suspension (FS) is the treatment of choice in congenital ptosis with poor levator function. We report the surgical outcome of FS using a double triangle configuration of silicone slings in children. METHODS: A retrospective cohort study of all paediatric patients with simple myogenic congenital ptosis repaired with FS over a 12-year period (2009-2020). Each silicone sling was secured by simple knots. Pre- and post-operative margin reflex distance (MRD1 ) measurements were determined from clinical photographs using ImageJ Software. Main outcome measures were improvement in eyelid height, eyelid asymmetry, reoperation rate and timing. RESULTS: One hundred and thirty nine patients (174 eyes) were included, with 35 (25%) having bilateral surgery. Mean (±SD) age was 1.4 ± 1.9 years. Mean follow up time was 32 ± 20.5 months. Sixteen patients (11%) had a history of previous ptosis repair surgery. Mean MRD1 improved by an average of 1.5 mm. The final MRD1 in the group of patients who did not have a second procedure was a mean of 2.1 mm. The MRD1 difference between both eyes in all unilateral cases improved from 2.5 mm preoperatively to 1.2 mm at final visit (p < 0.001). In the 123 cases without a history of previous ptosis surgery, repeat ptosis repair was performed in 37 (30%) patients, 34.9 ± 19.9 months after the initial procedure. Overall, repeat repair was performed in 47 patients (34%). CONCLUSIONS: Double triangle silicone sling frontalis suspension has a favourable outcome in two-thirds of paediatric patients with simple myogenic congenital ptosis. Failed cases can be addressed with a second repair, using either autogenous fascia lata or a second silicone sling.
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Blefaroplastia , Blefaroptosis , Blefaroplastia/métodos , Blefaroptosis/cirugía , Niño , Preescolar , Humanos , Lactante , Músculos Oculomotores/cirugía , Estudios Retrospectivos , Siliconas/uso terapéutico , Resultado del TratamientoRESUMEN
PURPOSE: The surgical management of congenital dacryocystoceles has evolved in recent decades. The aim of this study was to explore the effectiveness of endoscopic examination and powered microdebridement in the management of nasal cysts associated with congenital dacryocystoceles. METHODS: In this retrospective case series, all patients with congenital dacryocystoceles who underwent surgical intervention under general anesthesia at a single institution over a 12-year period (2009-2020) were included. RESULTS: Thirty-seven lacrimal drainage systems from 29 patients were included, 8 patients (28%) had bilateral dacryocystoceles. Twenty-two (76%) were females, and 5 (17%) patients had a history of prematurity. Mean (±SD) age at diagnosis was 15 ± 28 days, and 1.4 ± 1.7 months at surgical intervention. Mean follow-up was 7.5 months. The right side was more commonly involved (20 [69%] OD vs. 17 [59%] OS). Dacryocystitis was diagnosed at presentation in 23 lacrimal drainage systems (62%). Intraoperatively, intranasal cysts were observed in 32 lacrimal drainage systems (86%), and a powered microdebrider was used to excise each cyst. In 6 of the 21 supposed unilateral cases (29%), a contralateral cyst was identified and treated. The average birth age of patients with intranasal cysts was 39 weeks versus 36 weeks of patients without ( p = 0.03). Surgical success was found in 36 of 37 sides treated (97%); one case (3%) underwent unilateral endoscopic dacryocystorhinostomy during the follow-up period due to persistent symptoms. CONCLUSIONS: Congenital dacryocystoceles are associated with intranasal cysts in most cases. Surgical intervention with microdebrider is associated with a favorable outcome. Bilateral endonasal examination is ideal in all cases.
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Canaliculitis , Quistes , Dacriocistitis , Dacriocistorrinostomía , Obstrucción del Conducto Lagrimal , Conducto Nasolagrimal , Enfermedad Crónica , Quistes/complicaciones , Quistes/diagnóstico , Quistes/cirugía , Dacriocistitis/cirugía , Endoscopía , Femenino , Humanos , Lactante , Obstrucción del Conducto Lagrimal/congénito , Obstrucción del Conducto Lagrimal/diagnóstico , Masculino , Conducto Nasolagrimal/cirugía , Estudios RetrospectivosRESUMEN
BACKGROUND: Upper eyelid blepharoplasty surgery is one of the most common plastic surgeries. Khat is used topically to reduce tissue edema. OBJECTIVES: To evaluate the effect of topical khat administration after eyelid surgery on postoperative healing. METHODS: Our prospective comparative study included 24 patients who underwent upper eyelid blepharoplasty or ptosis surgery between 2019 and 2020. Patients were randomly assigned to 48 hours of cold dressing with frozen khat leaves and frozen peas dressing (common practice). Postoperative photographs of the eyes were evaluated for the degree of ecchymosis and edema on postoperative days (PODs) 1, 3, and 7 by three blinded observers. Measures included tissue swelling and hemorrhage on PODs 1, 3, and 7. RESULTS: The mean age of the cohort was 67 ± 7 years; 17 females (71%). Khat application was associated with lower postoperative ecchymosis at each time point. Females had lower levels of postoperative ecchymosis on POD 7 (P = 0.07). Eyelid edema was more pronounced in the khat group on PODs 1 and 3, but this was reversed on POD 7. There was good agreement among all three observers in grading ecchymosis and edema (P < 0.001). CONCLUSIONS: The use of khat was associated with less tissue ecchymosis after oculoplastic surgery, although this was not statistically significant even following sub-population analysis. The outcome can be attributed to the active ingredients of cathinone and cathine, which cause vasoconstriction and lipolysis, and to the anti-inflammatory and anti-oxidative flavonoids and phenolic compounds. These encouraging preliminary findings warrant additional studies on a biochemical/cellular level.
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Equimosis , Rinoplastia , Anciano , Catha , Equimosis/etiología , Edema/etiología , Párpados/cirugía , Femenino , Humanos , Persona de Mediana Edad , Complicaciones Posoperatorias/prevención & control , Estudios Prospectivos , Rinoplastia/efectos adversosRESUMEN
BACKGROUND: To determine the frequency of isolated blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) versus systemic genetic disorders in patients presenting with blepharophimosis. METHODS: Retrospective clinical records review. The records of all patients with blepharophimosis seen in the Division of Ophthalmology at the Children's Hospital of Philadelphia during a 12-year-period (2009-2020) were reviewed for medical history, clinical examination findings and results of genetic analyses. RESULTS: The 135 patients identified with blepharophimosis included 72 females (53%) and 63 males (47%) whose mean ± standard deviation age at first visit was 3.5 ± 6.4 years (range 0-39.8 years). Sixty-seven of the patients (50%) had undergone genetic testing for FOXL2 gene mutation. Fifty-four (81%) harboured FOXL2 gene mutations and 13 (19%) did not. Altogether, 126 patients (93%) had a final diagnosis of isolated BPES. The remaining nine (7%) had syndromic diagnoses ("blepharophimosis-plus"), including Dubowitz syndrome (n = 2), Ohdo syndrome (n = 1), 22q11.2 duplication (n = 1) and 3q22 deletion (n = 2). Three patients with multiple congenital anomalies remain undiagnosed. CONCLUSIONS: Blepharophimosis is an eyelid feature occurring most commonly in isolation due to FOXL2 gene mutation, but can also be a harbinger of multisystem disease not exclusive to isolated BPES, as observed in 7% of cases in this series. The ophthalmologist is often the first to recognise these unique features, and must consider and rule out non-BPES syndromes before establishing a diagnosed classic BPES. A comprehensive genetic evaluation is, therefore, indicated in all cases.
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Blefarofimosis , Adolescente , Adulto , Blefarofimosis/epidemiología , Blefarofimosis/genética , Niño , Preescolar , Femenino , Proteína Forkhead Box L2/genética , Factores de Transcripción Forkhead/genética , Humanos , Lactante , Recién Nacido , Masculino , Mutación , Linaje , Fenotipo , Estudios Retrospectivos , Síndrome , Adulto JovenAsunto(s)
Dacriocistorrinostomía , Síndrome de Down , Enfermedades del Aparato Lagrimal , Obstrucción del Conducto Lagrimal , Conducto Nasolagrimal , Niño , Humanos , Lactante , Síndrome de Down/complicaciones , Conducto Nasolagrimal/cirugía , Stents , Obstrucción del Conducto Lagrimal/terapia , Obstrucción del Conducto Lagrimal/congénito , Intubación , Resultado del Tratamiento , Estudios RetrospectivosRESUMEN
AIM: To evaluate residents' perceptions and attitudes toward the various aspects of a comprehensive ophthalmic examination, and to determine if these factors correlate with their choices for fellowship and future career plans. METHODS: This is a cross-sectional study. A questionnaire on the perception of the ophthalmic exam was sent via SurveyMonkey to ophthalmology residents throughout Israel. Eighty of them (one-half of all ophthalmology residents in 2019) completed it. The first part related to how they perceived each component of the ophthalmic evaluation. The second part related to their future fellowship plans. The Chi-squared test was used to compare categorical variables and Student's t-test and One-way ANOVA were used to compare continuous variables. Multivariate logistic regression analysis was applied as needed to detect interactions between variables and to exclude confounder effects. RESULTS: Slit-lamp examination of the anterior and posterior segments ranked as the most likeable aspects, whereas gonioscopy, ocular motility examination and visual acuity assessment were least likeable. Anterior segment and retina subspecialties were the ones most sought after. Forty-nine respondents (61.3%) noted a direct correlation between their preferred parts of comprehensive ophthalmic evaluations and their choice of subspecialty. Perceptions of selected components of those evaluations were significantly associated with responders' intentions to pursue anterior segment, retina, or oculoplastic fellowships (P<0.05). CONCLUSION: Perspectives of residents toward the ophthalmic examination, and most specifically its individual components, play an important role in their choice of subspecialty training.
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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.
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PURPOSE: This study explores the relationship between acquired punctal stenosis (PS) and ocular surface disease (OSD), assessing causal mechanisms and clinical impacts, utilizing a combination of a comprehensive literature review and a detailed analysis of a patient cohort from a tertiary care center. METHODS: Data from 213 PS patients at Sheba Medical Center were retrospectively analyzed, evaluating various OSD symptoms and treatment effectiveness through standardized clinical assessments and statistical tests. RESULTS: Predominantly older and female, many patients exhibited bilateral PS. OSD symptoms were found in 35.2% of all patients. Treatments like punctoplasty with stents significantly alleviated symptoms. Significant associations between treatment modalities and symptom improvement were identified. CONCLUSIONS: PS and OSD have acomplex, bidirectional relationship that complicates treatment outcomes. This study underscores the need for thorough diagnostic approaches and personalized treatments to improve PS management. Further research is essential to deepen understanding of PS-OSD interactions and develop effective therapies.