Osteochodromyxoma presenting as case of congenital nasolacrimal duct obstruction.

Purpose: We report the case of a 10-month-old with nasolacrimal duct obstruction (NLDO) associated with osteochondromyxoma (OMX), a very rare bone tumor. Observations: A 10-month-old boy presented with a 6-month history of right eye epiphora not responding to digital massage and topical steroid-antibiotics eye drops. The ophthalmic exam showed right medial canthal swelling. During the ophthalmic exam an abnormal snoring sound was noted. The mother also reported that patient experienced frequent upper respiratory tract infections. Inspection of nostrils showed a right nasal lesion that upon comprehensive evaluation by ENT and pathology teams turned out to be an OMX with loss of PRKAR1A expression. Further genetic testing confirmed the Carney complex (CNC) diagnosis and the patient was referred to multidisciplinary care. To the best of our knowledge, this is one of the first cases of OMX-induced NLDO, where a typical looking congenital NLDO ended up with a diagnosis of a rare genetic disease. Conclusion and Importance: We have described a case of OMX of the nasal cavity masquerading as congenital NLDO. This case emphasizes that NLDO is not always congenital if presenting within the first few months of life. It is important to obtain a thorough history and exam to evaluate potential differential diagnoses to guide subsequent decision-making steps.

A rare case of intra-parenchymal meningioma in a female patient who presented with seizures: A case report.

Key Clinical Message: Meningiomas are slow-growing tumors that develop from the arachnoid cap cells' meningothelial cells. Males are more likely to develop intra-parenchymal meningiomas, which also manifest earlier than ordinary meningiomas and are uncommon. Abstract: Meningiomas are slow-growing neoplasms which arise from the meningothelial cells of the arachnoid cap cells. Unlike other meningiomas, intra-parenchymal meningiomas do not originate from dura. Intra-parenchymal meningiomas are more common in males and develop earlier than regular meningiomas. Because of the rare occurrence the intra-parenchymal meningiomas, they are commonly misdiagnosed.

Reactivation of retinopathy of prematurity six years after intravitreal injection of bevacizumab.

Although intravitreal anti-vascular endothelial growth factor (VEGF) therapy is effective in the management of retinopathy of prematurity (ROP), reactivations following treatment are known to occur. We present the case of an asymptomatic child who developed a very late reactivation of ROP 6 years after its successful treatment with intravitreal bevacizumab. This case reemphasizes the importance of long-term follow-up after anti-VEGF therapy for ROP until retinal vascularization is complete. It also supports investigating the utility of laser photocoagulation for peripheral avascular retina after successful treatment with anti-VEGF injection for type I ROP.

Therapeutic Efficacy of Botulinum Toxin in Trigeminal Neuralgia.

Trigeminal neuralgia (TN) is a unilateral, paroxysmal, sharp, shooting, or jabbing pain that occurs in the trigeminal nerve divisions, including the ophthalmic (V1), maxillary (V2), and mandibular (V3) nerves. Typically, an episode is triggered by anything touching the face or teeth. TN is a clinical diagnosis with no specific diagnostic test; it is determined by the patient's medical history and pain description. Imaging is necessary to exclude secondary causes. The precise reason for TN is uncertain, but it is commonly believed to result from vascular compression of the trigeminal nerve root, typically near its origin in the pons. There are numerous surgical and medical treatment options available. The most frequently applied medical treatment therapies are carbamazepine and oxcarbazepine. Surgical alternatives are reserved for patients who do not respond to medical treatment. Botulinum toxin A (BTX-A) has emerged as a novel and promising alternative to surgery for individuals whose pain is unresponsive to medication. Multiple studies have established the safety and usefulness of BTX-A in treating TN, with the most significant benefits occurring between six weeks and three months after the surgery. This article reviews various studies published in the last 10 years regarding the therapeutic use of BTX-A in TN. These studies include various observational, clinical, pilot, and animal studies.

The Role of Mesenchymal Stem Cells in the Treatment of Type 1 Diabetes.

Type 1 diabetes (T1D) is a chronic disease characterized by inadequate or absent insulin production due to the autoimmune destruction of beta (ß) cells in the pancreas. It was once called "juvenile diabetes" since the disease frequently occurs in children, but it can also develop in adults. According to the International Diabetes Federation, an estimated 700 million adults will suffer from diabetes by 2045. Although the exact cause of diabetes remains unknown, it is hypothesized that genetic factors, environmental factors, and exposure to certain viruses play a role in the development of T1D. To date, exogenous insulin is the most common treatment for T1D. However, it is not a cure for the disease. Islet cell transplantation and pancreatic transplantation are two additional treatments that have gained popularity in recent years, but their clinical application may be limited by the need for high doses of immunosuppressants, the rarity of human cadaveric islets, and the need for extensive surgery in pancreatic transplantation. Mesenchymal stem cells (MSCs) are a highly promising novel treatment for T1D and their discovery has advanced biological sciences by allowing for modification of cell fate and the development of higher-order cellular structures. They play an essential role in lowering levels of fasting blood sugar, hemoglobin A1c, and C-peptide, and in treating microvascular complications associated with T1D. However, some of the disadvantages of its use in clinical practice are limited to its method of collection, proliferation rate, cell activity with age, and the risk of tumour formation identified in some studies. Large-scale studies are required to discover the mechanism of action of MSCs after administration as well as the optimal route, dose, and timing to maximize the benefits to patients. This article focuses primarily on the role of MSCs in the treatment of T1D and compares the feasibility, benefits, and drawbacks of MSCs in the treatment of T1D.

Ethnical Disparities in Response to Edaravone in Patients With Amyotrophic Lateral Sclerosis.

Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND), is a progressive neurodegenerative disease characterized by the weakness of voluntary muscles due to the loss of motor neurons. Symptoms ultimately culminate in the form of respiratory failure due to the involvement of the diaphragm. Unfortunately, there is no known cure for this disease. Hence, supportive therapy is the only available option in most terminal cases. However, Riluzole and Edaravone (EDA) are the only two known drugs approved by the U.S. Food and Drug Administration (FDA) for treating this condition. In 2017, EDA was approved for the treatment of ALS. It is hypothesized that Riluzole and EDA work via a mechanism involving antioxidants, which nullifies the oxidative stress believed to be involved in ALS. However, most studies in several countries have found a wide range of disparities in the efficacy of this drug. In this review, we aim to summarize the differences in results from epidemiological studies across 10 different countries and hypothesize the potential causes of these differences.

The Prevalence of Work-Related Musculoskeletal Disease Among Pediatric Ophthalmologists.

Introduction: Work-related musculoskeletal disease (MSD) is the second leading cause of disability globally. Ophthalmologists widely report MSDs in the neck (70%) and back pain (40-80%). Our study intended to identify the prevalence of MSDs among pediatric ophthalmologists. Methods: Pediatric ophthalmologists self-reported chronic pain, instrumentation used, years practiced, surgeries performed, work schedule/environment modifications due to MSD, and treatment for MSD via an anonymous online survey. Statistical analysis of responses included odds ratios, Pearson chi-square testing, and Spearman correlations. Results: This study had 101 respondents, with 66% reporting chronic pain. Chronic neck pain (41%) and lower back pain (31%) followed by shoulder pain (30%) were the leading MSD complaints and significantly correlated with years of experience (p<0.05). Participants often had multiple types of pain, including 13% of the sample who experienced all three types of pain. Those reporting shoulder and back pain also reported a greater incidence in work modification (68-83%). Those suffering from chronic neck, shoulder, and lower back pain have sought treatment for their MSD (p<0.05). Discussion: With such wide reporting of chronic neck, back, and shoulder pain, the development of MSDs likely leads to disability. Ergonomic innovations in the workplace may reduce the healthcare burden and prolong pediatric ophthalmologists' ability to provide services. Conclusion: In our study, the reported prevalence of chronic neck and back pain was comparable to previous studies and published literature, with 2/3 of participants reporting pain. There is a tremendous need for ongoing innovations, especially surgical loupes, operating microscopes, and slit-lamp modifications to prevent musculoskeletal disease.

Is YouTube a Useful Tool for Trainees in Pediatric Cataract Surgery?

PURPOSE: To determine the utility of surgical videos published on YouTube (Google) as resources for trainee education in pediatric ophthalmology, the authors assessed the surgical proficiency, patient care, and video quality displayed in the published YouTube content. METHODS: The 10 most highly viewed pediatric and congenital cataract procedural videos published within the past 10 years were independently reviewed by three separate board-certified, fellowship-trained, practicing pediatric ophthalmologists. Videos were assessed for surgical competency on a 5-point Likert scale in six key areas as outlined in the American Academy of Ophthalmology's congenital cataract surgery guidelines. The teaching quality of the videos was also subjectively assessed based on multiple measures. RESULTS: The mean overall score was 3.93 ± 0.94 (range: 2.67 to 4.67). Only one video failed to receive an overall score of greater than 3, indicating incompetent overall surgical performance. No other video failed to have a mean competent score for any single individual technique. One video demonstrated potential patient safety concerns. Eighty percent of videos had adequate or better picture quality. CONCLUSIONS: Of the 10 most popular pediatric cataract surgical videos published on YouTube, all but one displayed competent overall surgical technique. Although viewers must always be wary because unvetted and potentially harmful videos may be published on the platform at any time, if used correctly, surgical content published on YouTube can be a helpful tool for ophthalmologic trainees. [J Pediatr Ophthalmol Strabismus. 2022;59(3):200-203.].

Internet addiction and sleep quality among medical students during the COVID-19 pandemic: A multinational cross-sectional survey.

BACKGROUND: The emergence of the COVID-19 pandemic has affected the lives of many people, including medical students. The present study explored internet addiction and changes in sleep patterns among medical students during the pandemic and assessed the relationship between them. METHODS: A cross-sectional study was carried out in seven countries, the Dominican Republic, Egypt, Guyana, India, Mexico, Pakistan, and Sudan, using a convenience sampling technique, an online survey comprising demographic details, information regarding COVID-19, the Pittsburgh Sleep Quality Index (PSQI), and the Internet Addiction Test (IAT). RESULTS: In total, 2749 participants completed the questionnaire. Of the total, 67.6% scored above 30 in the IAT, suggesting the presence of an Internet addiction, and 73.5% scored equal and above 5 in the PSQI, suggesting poor sleep quality. Internet addiction was found to be significant predictors of poor sleep quality, causing 13.2% of the variance in poor sleep quality. Participants who reported COVID-19 related symptoms had disturbed sleep and higher internet addiction levels when compared with those who did not. Participants who reported a diagnosis of COVID-19 reported poor sleep quality. Those living with a COVID-19 diagnosed patient reported higher internet addiction and worse sleep quality compared with those who did not have any COVID-19 patients in their surroundings. CONCLUSION: The results of this study suggest that internet addiction and poor sleep quality are two issues that require addressing amongst medical students. Medical training institutions should do their best to minimize their negative impact, particularly during the current COVID-19 pandemic.

Risk factors for mental health symptoms during the COVID-19 pandemic in ophthalmic personnel and students in USA (& Canada): a cross-sectional survey study.

BACKGROUND: The COVID-19 pandemic poses mental health challenges to frontline healthcare workers. Eye care professionals may be especially susceptible to mental health problems due to high-risk exposures to patients. Yet, no prior research has studied mental health issues among eye care professionals during the COVID-19 pandemic. OBJECTIVE: The purpose of this study was to identify risk factors for mental health problems during the COVID-19 pandemic among eye care professionals. METHODS: We conducted a cross-sectional survey study among eye care professionals and students in the United States and Canada from June 23 to July 8, 2020 during the COVID-19 pandemic. A total of 8505 eye care professionals and students received email invitations to the survey and 2134 participated. We measured mental health outcomes including symptoms of depression, anxiety, and stress using validated scales, as well as potential risk factors including demographic characteristics, state-level COVID-19 case counts, participants' patient interactions, childcare responsibilities, and pre-pandemic stress levels. Linear multiple regression and logistic regression analyses were used to determine relationships between risk factors and mental health outcomes. RESULTS: We found that 38.4% of eyecare professional participants in the survey met screening threshold as probable cases of anxiety, depression, or both during the COVID-19 pandemic. Controlling for self-reported pre-pandemic stress level and state COVID-19 case daily cases, significant risk factors for depression, anxiety, and psychological stress during the COVID-19 pandemic included: being female, younger age, and being Black or Asian. Interestingly, we found two somewhat surprising protective factors against depression symptoms: more frequent interactions with patients and having a greater proportion of childcare responsibilities at home. CONCLUSIONS: This study showed a high prevalence of mental health problems and revealed disparities in mental health among eye care personnel and students: Female, younger, Black, and Asian populations are particularly vulnerable to mental health issues. These results indicate that it is critical to identify mental health issues more effectively and develop interventions among this population to address this significant and growing public health issue. The strategies and policies should be reflective of the demographic disparities in this vulnerable population.

Visual Outcomes in Pediatric Patients with Peters Anomaly.

PURPOSE: This study aimed to evaluate the visual outcomes of pediatric patients diagnosed with Peters anomaly (PA) in a tertiary eye care center. METHODS: This was a retrospective study undertaken at a single academic center. Clinical records of pediatric patients diagnosed with PA from 2000 to 2017 were reviewed. Parameters recorded included visual acuity (VA), intraocular pressure (IOP), presence of glaucoma, and surgical procedures performed. The impact of PA type on final visual acuity levels was analyzed using generalized estimation equation models. RESULTS: Twenty-one eyes from 11 patients were analyzed. At the final visit, 9 eyes (42.8%) had a VA ≥20/200, while 12 (57%) had <20/200, ranging from 20/250 to no light perception. Of the study cohort, 15 (71.5%) eyes had type I, while six (28.5%) had type II PA. Glaucoma was present in 20 eyes (95%) at the final visit. One eye had dense central leucoma and microphthalmos where IOP could not be measured accurately. Seventeen eyes (81%) underwent at least one intraocular surgery, while the average number of surgeries per eye was 2.9 ± 2.5 (range=0- 9). The type of PA beta(se)=0.53 (0.41), p = 0.20] was not found to be a significant risk factor for worse VA. CONCLUSION: Severe visual impairment develops in the majority of patients with PA. The type of anomaly does not appear to be associated with a worse visual function in patients with PA. Glaucoma develops in a high percentage of this patient population, and thus close monitoring of IOP in this patient population is crucial.

Feasibility of rapid magnetic resonance imaging (rMRI) for the emergency evaluation of suspected pediatric orbital cellulitis.

PURPOSE: To determine the feasibility of noncontrast rapid magnetic resonance imaging (rMRI), compared with traditional contrast-enhanced computed tomography (CT) in assessing pediatric emergency department patients with suspected orbital cellulitis or orbital abscess. METHODS: All subjects <19 years of age who presented emergently with suspected orbital cellulitis from July 1, 2017, to July 31, 2019, were included. Participants received both the standard contrast orbital CT, if deemed necessary, with the addition of the noncontrast rMRI after informed consent was obtained. No sedation was used for either examination. All clinical decisions were based on CT findings; rMRI was interpreted within 24 hours of the visit. Three pediatric radiologists, with 8-21 years' experience of pediatric neuroradiology, interpreted the rMRI, masked to the CT and clinical results. Results were analyzed for interobserver bias. RESULTS: A total of 14 patients were enrolled during the study period. Mean age was 5.9 years (range, 0.33-13). Of the 14 patients, 13 (93%) were able to complete the rMRI at 1.5 and 3T; 1 patient (1.67 years of age) was unable to complete the rMRI (no images obtained). Of the 26 unilateral orbital units assessed, 3 were positive for retroseptal orbital cellulitis by CT and were diagnosed correctly by rMRI. Interobserver agreement was 100% in detecting presence or absence of retroseptal cellulitis. CT and rMRI findings were concordant in 100% of cases in differentiating preseptal vs orbital cellulitis. Kappa statistics for three-category ratings by three raters for right eye/orbit was 0.921 and for left eye/orbit was 0.9288, suggesting almost perfect agreement. Concordance correlation coefficients were 0.938 for the right eye and 0.955 for the left eye. CONCLUSIONS: Noncontrast rMRI orbits showed findings concordant in all cases with contrast-enhanced CT for differentiating preseptal cellulitis from orbital cellulitis.

Macular crystalline inclusions in Sjögren-Larsson syndrome are dynamic structures that undergo remodeling.

BACKGROUND: Sjögren-Larsson syndrome (SLS) is a rare genetic neurocutaneous disease caused by mutations in ALDH3A2 that results in deficiency of fatty aldehyde dehydrogenase and accumulation of fatty aldehydes and alcohols. The disease is associated with ichthyosis, spasticity, and intellectual disability. Patients exhibit a characteristic retinopathy with macular crystalline inclusions that first appear in early childhood and increase with age. Once formed, the inclusions are thought to be inert and irreversible. We sought to document how the crystalline inclusions change over time. MATERIALS AND METHODS: Serial retinal photographs of 4 SLS subjects (9-23 years old) were taken over a period of 1-3 years. Images were compared by visual inspection and analyzed using ImageJ/Fiji software to observe changes. RESULTS: Visual inspection of retinal photographs of SLS subjects taken over time demonstrated distinctive changes in crystalline inclusions. New inclusions were formed and some established inclusions regressed. These changes were conveniently demonstrated with software-based photographic image analysis. CONCLUSIONS: We conclude that macular inclusions in SLS are not simply inert deposits, but are dynamic structures that form over time and are subject to remodeling. This conclusion provides new insight into the interplay between the metabolic defect and retinal pathology in SLS, and raises the potential for new therapeutic approaches to reverse some aspects of the maculopathy.

Orbital pseudotumor as the presenting symptom of Crohn's disease in a male child.

PURPOSE: This report will describe a case of orbital pseudotumor that is associated with underlying Crohn's disease in a pediatric patient. OBSERVATIONS: An 8-year-old male with a past medical history of chronic constipation who presented to the ophthalmologist in July 2017 with a 7-month history double vision, left upper lid ptosis, left abducens nerve palsy, and an abnormal thyroid test. The patient's family history was negative for any autoimmune disease including, juvenile idiopathic arthritis, rheumatoid arthritis, thyroid disease, type 1 diabetes mellitus or inflammatory bowel disease. Diagnosis of orbital pseudotumor of the left eye was made based on CT scan findings and he was then treated with a one-week course of oral prednisone. After resolution of his initial symptoms, he presented a month later with swelling in his left eye and was treated with a 6-month steroid taper with resolution of symptoms. In June 2018, the patient presented with swelling in his right eye and was treated with prednisone plus steroid sparing agents. Extraocular muscle biopsy was negative for IgG4 related disease, fungal infection, or malignant lymphoma and workup for sarcoidosis and granulomatosis with polyangiitis was unremarkable. In September 2018, the patient presented with bloody stools, diagnosed and treated for a perirectal abscess. Subsequent colonoscopy performed in January 2019 confirmed Crohn's disease. He is currently undergoing treatment with adalimumab and is in remission in terms of orbital pseudotumor. CONCLUSION AND IMPORTANCE: In conclusion, although the association between orbital pseudotumor and Crohn's disease is very rare, medical professionals should remember this connection when a patient presents with idiopathic orbital pseudotumor. To rule out this possibility, we recommend a thorough history of GI findings should be taken on the initial patient encounter. Crohn's disease may be an underlying cause of certain cases of orbital pseudotumor, and treatment and control of the underlying Crohn's disease may help to reduce recurrence rates of orbital pseudotumor. Additional studies need to be performed to better understand the association between the two diseases.

Ocular features of Townes-Brocks syndrome.

Townes-Brocks syndrome (TBS) is a rare genetic syndrome associated with heterozygous mutations in SALL1 and characterized by abnormalities of the anus, ear, and thumb. Ophthalmic findings have been rarely reported and include congenital cataract, microphthalmia, optic nerve atrophy, coloboma, epibulbar dermoid, and dysinnervation patterns, such as Duane syndrome and gustatory lacrimation. We report a case of genetically confirmed TBS showing a spectrum of ocular anomalous innervations, including bilateral type 1 Duane syndrome and Möbius sequence, left-sided Marcus Gunn jaw winking, left eye gustatory lacrimation, and lack of emotional tearing bilaterally. Magnetic resonance imaging of brain and orbit showed absence of the abducens nerve bilaterally and of the left facial nerve.

Sjögren-Larsson syndrome: a complex metabolic disease with a distinctive ocular phenotype.

Purpose: Sjögren-Larsson Syndrome (SLS) is a rare genetic disorder characterized by a distinctive crystalline maculopathy, congenital ichthyosis, spasticity and intellectual disability. We review the genetic, biochemical and clinical aspects of SLS with a particular focus on the ophthalmologic features of the disease.Methods: Published reports of SLS are combined with clinical experience to provide an overview of this disease.Results: SLS is caused by bi-allelic mutations in ALDH3A2, which codes for fatty aldehyde dehydrogenase, a key enzyme needed for the metabolism of long-chain aliphatic aldehydes and alcohols. SLS patients display perifoveal crystalline inclusions (glistening white dots) that appear in early childhood, vary from sparse to florid and are located in the inner retina. Other findings include retinal thinning, cystic macular degeneration, retinal pigment epithelium atrophy and deficiency of macular pigment. Photophobia is common. Visual evoked potentials are often absent or delayed, whereas electroretinography studies are usually normal. Mild-moderate deficits in visual acuity are common but vision is usually preserved into adulthood. The maculopathy is thought to be due to the accumulation of fatty aldehydes and/or alcohols, which alter membrane function. Defective macular pigment metabolism may also contribute to a unique susceptibility to photo-oxidative damage in the retina.Conclusions: The distinctive retinal phenotype, together with the neurologic and cutaneous symptoms, allows the ophthalmologist to reliably diagnose SLS. Although no effective treatment exists for the ocular symptoms, emerging insight into the pathogenic mechanisms at play in the eye promises to bring effective therapy for SLS in the future.