Alpha-1 antagonist treatment for eyelid retraction in patients with thyroid eye disease-a prospective pilot study.

BACKGROUND: Sympathetic overstimulation of Müller's muscle is a suggested mechanism underlying upper eyelid retraction in thyroid eye disease (TED). We examined the effect of tamsulosin, an alpha-1 antagonist, on eyelid retraction in patients with TED. METHODS: A single-centre prospective study. Patients with TED and associated eyelid retraction were treated with oral 0.4 mg/day tamsulosin for 3 months. Upper eyelid margins-to-reflex distance (MRD1), vertical palpebral fissure height (PFH), subjective improvement, signs and symptoms of dry eye, and lubricants use were assessed at baseline and at each subsequent visit. RESULTS: Eleven suitable patients (mean age 47.5 ± 9.68, 8 females) enrolled in the study. Three patients discontinued the drug due to mild adverse effects (dizziness, bradycardia, nausea, and gastrointestinal distress), which resolved immediately upon stopping treatment. The other eight patients tolerated the drug well and reported no side effects. Five patients experienced an objective improvement in eyelid position and subjective improvement in eye discomfort. The mean MRD1 decreased by -1.04 ± 0.81 mm (P = 0.015), and mean PFH decreased by -1.46 ± 1.33 mm (P = 0.039). Mean duration of tamsulosin treatment was 84.63 ± 71.9 days. Patients discontinued the drug due to no improvement in MRD1 (n = 3), referral for eyelid surgery with stable inactive TED (n = 2), treatment with intravenous methylprednisolone due to worsening active TED (n = 2), and patient choice after 5 months of treatment with spontaneous resolution of symptoms (n = 1). CONCLUSIONS: Tamsulosin is a safe potential treatment for eyelid retraction in TED and can be used as a temporary alternative therapeutic approach for patients unsuitable for surgery.

Magnetic resonance diffusion-weighted imaging in lacrimal gland lymphoma versus inflammation: A comparative study.

PURPOSE: To determine the role of diffusion-weighted imaging (DWI) with apparent diffusion coefficient (ADC) in differentiating the inflammatory process and malignant lymphoma of the lacrimal gland. METHODS: A retrospective analysis of all subjects who underwent lacrimal gland biopsy and magnetic resonance (MR) imaging with DWI sequences during a 10-year period at the Sheba Medical Center, Israel. The lacrimal glands' ADC values were documented bilaterally by blinded observers and correlated with the final histology verified diagnoses. RESULTS: Twenty-eight patients were included, with 19 females (68%) with a mean ± SD age of 48.1 ± 25.7 years. The right orbit was involved in 14 cases (50%) and the left in 13 (46%); one patient (4%) had bilateral involvement. Seventeen cases (61%) had a final diagnosis of idiopathic inflammation or dacryoadenitis, and six cases (21%) were diagnosed with lymphoma. Additional diagnoses included pleomorphic adenoma in 3 (11%), adenoid cystic carcinoma, and solitary fibrous tumor. Lower mean ADC values were observed in the lymphoma versus inflammatory group (1.03 × 10-3 Vs. 1.45 × 10-3, P = 0.02). CONCLUSION: Restricted diffusion on MR imaging can serve as a diagnostic tool in the differentiation between inflammatory processes of the lacrimal gland and lymphoma.

Association Between Xanthelasma Palpebrarum with Cardiovascular Risk and Dyslipidemia: A Case Control Study.

PURPOSE: 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 through 2020. METHODS: Medical records were reviewed to extract data on ophthalmic evaluations, blood test results, and systemic diagnoses. Patients identified with XP in at least 1 eye constituted 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 were determined. Lipid profiles and diagnoses of dyslipidemia and CVD were compared between the case and control groups. RESULTS: The database included 35 452 individuals, 24 287 of whom were male (69%), with a mean ± standard deviation age of 52.2 ± 12.2 years. The study population included 203 patients with XP (0.6%) and 2030 matched control participants. The prevalence of dyslipidemia diagnosis was similar between the two groups (42% XP vs. 46% controls, P = 0.29), as were the use rates of statins, fibrates, or other cholesterol-lowering medications (48% XP vs. 47% controls, P = 0.88). Lipid profiles were similar between the groups, including total cholesterol (controls median 187 [IQR, 163-211] vs. XP 192 [166-215], P = 0.093), high-density lipoprotein (controls median 48 [IQR, 41-57] vs. XP 47 [42-57], P = 0.65), low-density lipoprotein (controls median 120 [101-141] vs. XP 125 [104-145], P = 0.17), and triglyceride levels (controls median 111 [81-152] vs. XP 105 [81-139], P = 0.16). The rate of CVD was similar as well (10% control group vs. 8.9% XP group; P = 0.56). The prevalences of related conditions, including hypertension, diabetes mellitus, and history of cerebrovascular accident, were similar between groups (24% control group vs. 23% XP group, 14% control group vs. 10% XP group, and 1.3% control group vs. 1% XP group, respectively; P > 0.05). CONCLUSIONS: Xanthelasma palpebrarum 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. FINANCIAL DISCLOSURE(S): The author(s) have no proprietary or commercial interest in any materials discussed in this article.

Reoperation for congenital ptosis: characteristics, success rates, and predicting factors.

OBJECTIVE: Reoperation for congenital ptosis has added morbidity. The purpose of the current study was to examine the risk for redo ptosis surgery in patients with congenital ptosis, as well as to find predictive factors for reoperation. METHODS: This is a retrospective, cohort study. Analysis of all patients with congenital ptosis who underwent their first ptosis correction surgery between 2012 and 2021 at Sheba Medical Center was performed. RESULTS: Sixty patients (36 male and 24 female) underwent ptosis surgery for congenital ptosis Twenty nine patients (48.33%) underwent frontalis sling (FS), 13 patients (21.67%) underwent levator muscle (LM) surgeries, 9 patients received levator resection (LR), 4 patients received external levator advancement (LAA), and 18 patients (30%) underwent Müller's muscle-conjunctival resection (MMCR). Eighteen patients (30%) underwent a second ptosis surgery. The unadjusted risk of second ptosis surgery was almost four-fold among males with ptosis relative to females with ptosis (HR, 3.90; 95% CI, 3.67-547; p = 0.033) and higher among younger individuals (HR, 4.23; 95% CI, 3.33-5.62; p = 0.042). Older age was protective against the risk of second ptosis surgery (adjusted OR, 0.50; 95% CI, 0.21-0.60; p < 0.001), whereas male sex was associated with an increased likelihood of second ptosis surgery (adjusted OR, 3.33; 95% CI, 1.64-3.98; p < 0.001). CONCLUSIONS: An increased risk of failure of the first surgery was found among male patients, younger patients, and patients with more severe ptosis before the first surgery. Awareness of those factors is beneficial for clinicians and parents.

Ocular manifestations and outcomes of OPMD- a report from the national IsrOPMD registry.

PURPOSE: This study aims to describe the ocular manifestations, treatment, and prognosis of OPMD patients registered in the national Israel OPMD(IsrOPMD) registry. METHODS: Data was prospectively collected from patients referred to the IsrOPMD registry from January 2022 to March 2023. This included patient demographics, medical and ocular history, eye exams, eyelid evaluations, visual field exams, and orthoptic evaluations. RESULTS: 30 patients (15 males, mean age 53 years) were treated in the ocular OPMD clinic, predominantly of Bukhari descent (86.6%). The mean visual acuity was 0.06 logMAR. Twenty-one patients (70%) had eye movement problem, mostly in horizontal gaze. 6(20%) patients' complaint about diplopia. Ptosis surgery was performed in 21(70%) patients, with 17(56.7%) patients underwent frontalis sling surgery and 4(13.3%) patients undergoing levator advancement. The mean Margin reflex distance (MRD1) improved post-surgery (2.28 mm vs. 1.58 mm), but 11(36.6%) patients required more than one ptosis surgery. CONCLUSIONS: The study contributes valuable insights into the ocular aspects of OPMD. It reveals that OPMD patients often experience a range of ocular symptoms, such as ptosis, abnormalities in eye movements, strabismus, and potentially diplopia, which can significantly impact their quality of life. The findings underscore the importance of regular ophthalmological follow-up for these patients to address these symptoms effectively. The study is significant in contributing to the limited but growing knowledge about the ocular manifestations of OPMD and the management of these symptoms to improve the quality of life for patients suffering from this condition.

Lacrimal Obstruction in Craniosynostosis: Anatomical and Genetic Risk Factors.

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.

Association Between Acquired Punctal Stenosis and Ocular Surface Disease: the Egg and the Chicken Story.

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.

Punctal Atresia As a Clinical Indicator of Systemic Genetic Anomalies.

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.

Semiautomated MRI-Based Method for Orbital Volume and Contour Analysis.

PURPOSE: 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.

Orbital Development in Children with Retinoblastoma: An Imaging-Based Study.

PURPOSE: To examine whether children treated for Retinoblastoma (Rb) have impaired orbital development. METHODS: A retrospective case series was performed among children with Rb treated at a single medical center from 2004 to 2020. Orbital volumes and measurements were assessed by 3-dimensional image processing software. The main outcome measures were differences in orbital growth between Rb and non-Rb eyes assessed at last follow-up. RESULTS: Among 44 patients included (mean age 16.09 ± 18.01 months), a positive correlation between age and orbital volume was observed only in the uninvolved, healthy eyes (p = .03). In unilateral cases, orbital growth in the horizontal, vertical, and depth planes was smaller on the affected side compared to the healthy eyes (p < .05). Orbits that underwent enucleation showed decreased growth over time compared to those treated conservatively (p = .017). CONCLUSIONS: Orbital growth rate is slower in the orbits of children treated for Rb compared to healthy orbits. Enucleation negatively affects orbital growth.

Ophthalmic exam and ophthalmology residents' subspecialty preference.

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.

First-in-human Clinical Trial of a Novel Eyelid warming Device in Meibomian Gland Dysfunction.

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.

Prevalence of common and rare ophthalmic findings in adults attending a medical survey institute.

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.

Elevated serum thyroid stimulating immunoglobulin linked to failure of first-line intravenous methylprednisolone monotherapy in moderate-to-severe thyroid eye disease.

PURPOSE: To assess factors associated with failure of intravenous methylprednisolone (IVMP) monotherapy as the first-line treatment for thyroid eye disease (TED) and to identify patients who might benefit from supplementing mycophenolate mofetil (MMF) to IVMP. METHODS: Data for all patients with TED treated with IVMP according to the EUGOGO protocol in our center between 2016-2021 were retrospectively analysed. RESULTS: Forty-seven patients (mean age 51.32 ± 14 years, 27 females) were enrolled. The mean time from first reported symptoms to first IVMP treatment was 12.1 ± 5.59 months (range 0-120). The mean clinical activity score (CAS) before treatment and at a mean of 5 and 12.2 weeks after treatment initiation was 6.00, 2.96, and 1.81, respectively (P < 0.01). Twenty-one patients (44.68%) were recommended second-line treatment: nine due to no response or worsening of CAS, six due to partial response, four with good response but early relapse after completion of treatment, and one due to late relapse. Eighteen of those 21 patients received second-line treatment which included rituximab (n = 7), MMF (n = 6), a second course of IVMP (n = 4), and tocilizumab (n = 1). Serum thyroid-stimulating immunoglobulin (TSI) levels were higher in patients who received second-line treatment compared with patients who responded well to first-line IVMP monotherapy at presentation (2135% vs 1159%, P = 0.05) and after completion of first-line treatment (2201% vs. 986%, P = 0.043). DISCUSSION: TED patients requiring second-line treatment after failed IVMP monotherapy had higher baseline and post-first-line treatment serum TSI levels. Those with elevated TSI may benefit from dual therapy (IVMP and MMF) and require closer monitoring.

Orbital Fat Density as a Diagnostic Tool in Pre-Septal and Orbital Cellulitis.

PURPOSE: To evaluate the usefulness of measuring orbital fat density in identifying post-septal involvement when initial differential diagnosis between orbital and periorbital cellulitis (OC and POC) is unclear. MATERIALS AND METHODS: Retrospective study of patients with clinical diagnosis of OC or POC who underwent contrast-enhanced computerized tomographic scans over a span of 10 years. Intraconal orbital fat density was measured with Hounsfield units (HU) in six areas on axial scans consisting of nasal and temporal intraconal sites. These measurements correlated with the initial and final diagnoses. Main outcome measures were HU values at the initial and final diagnoses. RESULTS: Fifty-seven patients were included. Mean HU measurement was -52 ± 18 HU for the involved side vs. -63 ± 13 for the uninvolved side (P < .001). The values were higher in cases of a final diagnosis of OC in the involved side (P < .001). The HU values were significantly higher in the nasal vs. the temporal locations of each orbit bilaterally (P < .001). The initial POC diagnosis of 20 patients (35%) was revised to OC. CONCLUSION: Intraconal fat density measurements can assist in the primary assessment of orbital involvement in patients with an uncertain initial diagnosis, with a HU value higher than -50 is suggestive of orbital involvement.

Glaucoma Prediction Models Based on Ocular and Systemic Findings.

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).

Ocular manifestations in Koolen-de Vries syndrome: an international study.

OBJECTIVES: Koolen-de Vries Syndrome (KdVS) is a rare multisystem neurodevelopmental disorder. Ocular manifestations, including strabismus, ptosis, and hyperopia, have been reported in KdVS patients, but detailed clinical data are limited. This study aims to investigate the already known ocular malformations and their frequency while uncovering novel ocular associations. METHODS: This was an international cross-sectional study. An anonymous questionnaire was sent to 237 KdVS patients registered in the GenIDA database. The questionnaire inquired about demographic data, ocular symptoms, findings reported by ophthalmologists, and ophthalmologic surgical interventions. The main outcome measures included ocular findings and surgical interventions. RESULTS: Sixty-seven respondents worldwide completed the questionnaire, most (n = 53; 79%) under 18 years of age. Ophthalmologic abnormalities, noted in 79% of patients, included refractive errors (n = 35; 52.2%), strabismus (n = 23; 34.3%), amblyopia (n = 13; 19.5%), and eyelid ptosis (n = 9; 13.4%). Lacrimal disorders were present (n = 6; 9.0%), as were retinal findings (n = 7; 10.4%), including retinal hyperpigmentation or hypopigmentation (n = 4; 7.5%), Sjögren's pigment epithelial reticular dystrophy (n = 1; 1.5%), and macular chorioretinal coloboma (n = 1; 1.5%). Other manifestations included ocular surface disorders (n = 5; 7.5%), cataracts (n = 3; 4.5%), Brown syndrome (n = 1; 1.5%), glaucoma (n = 1; 1.5%), cerebral visual impairment (n = 1; 1.5%), and optic atrophy (n = 1; 1.5%). Fourteen patients (20.8%) had undergone surgical interventions. CONCLUSIONS: KdVS is associated with various ophthalmic findings, such as amblyopia, refractive errors, strabismus, and eyelid ptosis. We describe, for the first time, a high rate of nasolacrimal disorders and retinal abnormalities consisting mainly of pigmentary findings, including a rare case of Sjögren's pigment epithelial reticular dystrophy. A comprehensive ophthalmic evaluation is therefore recommended for all KdVS patients at initial diagnosis or at 4-6 months of age for diagnosed newborns.