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.

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.].

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.

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.

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.

Clinical features of pediatric idiopathic intracranial hypertension.

Introduction: Adult idiopathic intracranial hypertension (IIH) is often linked to obesity, however, causes of IIH in children are not well understood. This project identifies potential risk factors and features of pediatric IIH. Methods: This study consisted of a retrospective chart review of patients ages 5-17 years who were seen at a tertiary care children's hospital and diagnosed with IIH. Diagnostic criteria included the presence of papilledema, normal neurological exam, normal neuroimaging, normal cerebrospinal fluid composition, and an opening pressure of a lumbar puncture >28 mmHg. Results: Of the 26 cases of IIH, 19 met all diagnostic criteria for this study, while seven patients were probable IIH, as they lacked papilledema. Intracranial pressure ranged from 28 to 66 mmHg, with a mean of 40.23 mmHg (±10.74). Overall, 50.0% (95% CI: 29.9-70.1%) of IIH patients were obese, with patients 12 years of age and younger exhibiting an overall obesity rate of 30.7% and patients 13 years of age and older having an obesity rate of 69.2%. The overall allergy rate in this IIH patient population was 46.2% (95% CI: 26.6-66.6%). Conclusion: Obesity appears to have no association with IIH in younger cases, but it is a more common feature in older children. An autoimmune component may play a role in pediatric IIH, given the high rate of atopy observed in this pediatric IIH patient cohort. Because a diagnosis of IIH can have an absence of optic nerve edema, taking a detailed history and performing a thorough examination are keys to diagnosing IIH in the pediatric population.

Clinical comparison of ocular and systemic findings in diagnosed cases of abusive and non-abusive head trauma.

PURPOSE: Child abuse is a leading cause of death in infants, which is often associated with abusive head trauma (AHT). The purpose of this retrospective analysis was to identify ocular and systemic findings in confirmed cases of AHT and compare them to a group of non-abusive head trauma (NAHT) patients. PATIENTS AND METHODS: A retrospective chart review of 165 patients with accidental and non-accidental trauma admitted between 2013 and 2015 to Children's Hospital and Medical Center in Omaha, NE, USA, was performed. Diagnosis of AHT was made after the analysis of ocular and systemic findings by various subspecialists. The NAHT group consisted of accidental trauma, abusive trauma without significant apparent head involvement on initial evaluation and unconfirmed AHT cases. RESULTS: Of the 165 presenting cases, 30 patients were diagnosed with AHT and 127 were diagnosed with NAHT. Ocular findings in AHT patients were significant for retinal hemorrhages (63%) and vitreous hemorrhages (37%), while NAHT patients had no ocular findings (p<0.001). Neuroimaging revealed subdural hemorrhages (SDHs) in 29 out of 30 AHT patients (97%) and in 27 out of 127 NAHT patients (21%). Seizures were present in 43% of AHT patients (n=13) and only in 8% of NAHT patients (n=10). CONCLUSION: AHT has statistically significant findings of retinal and vitreous hemorrhages. The absence of diffuse retinal hemorrhages, however, does not preclude the AHT diagnosis as more than one-third of AHT patients lacked retinal hemorrhages. SDHs, loss of consciousness and history of seizures also have high correlation with a diagnosis of AHT.

Retinopathy of prematurity: preferred practice patterns among pediatric ophthalmologists.

PURPOSE: The treatment of retinopathy of prematurity (ROP) is not standardized and can vary significantly between providers. This study aims to determine preferred practices in treating ROP by globally surveying pediatric ophthalmologists. METHODS: Between January and February 2017, an international pediatric ophthalmology interest group was invited to complete an anonymous survey of 18 questions. The main objectives were to determine the preferred first line of treatment for ROP, the preferred dosage of intravitreal bevacizumab (IVB) used, and the outcome and possible complications following bevacizumab injection. RESULTS: Out of 101 pediatric ophthalmologists, 72 (71.8%) stated that they had direct involvement in the treatment of ROP. When presented with type 1 ROP which requires treatment, 69 ophthalmologists (68.3%) stated that they prefer laser treatment over bevacizumab, and 33 ophthalmologists (32.7%) stated they would recommend bevacizumab as a first choice. Ninety-three ophthalmologists (92.1%) reported the success of 1 laser treatment between 75% and 100%, and 35 ophthalmologists (34.7%) perceive bevacizumab to be 75%-100% successful. Half dose of adult-prescribed bevacizumab at 0.625 mg/0.05 mL was preferred by 47 of the ophthalmologists (46.5%). No cases of endophthalmitis were reported with intravitreal injection. CONCLUSION: Laser photoablation remains the preferred mode of treatment for ROP among surveyed ophthalmologists across the world. Though bevacizumab is currently being used, this form of treatment is not as common, primarily due to the unknown safety profile and potential long-term ramifications of the drug.

Comparison Study of Funduscopic Examination Using a Smartphone-Based Digital Ophthalmoscope and the Direct Ophthalmoscope.

PURPOSE: To assess the ease of use of the D-EYE digital ophthalmoscope (D-EYE Srl, Padova, Italy) in retinal screening against the conventional direct ophthalmoscope. The digital ophthalmoscope used comprised a smartphone equipped with a D-EYE lens that produces digital retinal images. METHODS: Twenty-five medical students were given 30 minutes of instruction regarding how to use a direct ophthalmoscope and D-EYE digital ophthalmoscope by a pediatric ophthalmologist. Afterwards, they used two methods to view the fundus under dim light on two undilated volunteer participants under supervision of the pediatric ophthalmologist. Each student had to describe their findings and show the video taken from the smartphone to the pediatric ophthalmologist. Students also completed a survey rating their experience using each method. RESULTS: Ninety-two percent of the medical students preferred the D-EYE digital ophthalmoscope to the direct ophthalmoscope. Students were also able to identify the optic nerve and macula in a shorter amount of time and review the images to confirm their findings. Overall, the medical students showed a strong preference for the D-EYE digital ophthalmoscope that was statistically significant (P < .001). CONCLUSIONS: The D-EYE digital ophthalmoscope is a practical device that could be incorporated into medical education and clinical practice. Survey results revealed that most students preferred the D-EYE digital ophthalmoscope due to the recording features and larger image of the fundus. [J Pediatr Ophthalmol Strabismus. 2018;55(3):201-206.].