Duane syndrome in association with congenital disorder of glycosylation type Ig (ALG12-CDG).

Congenital disorders of glycosylation type I (CDG-I) are a group of autosomal recessive genetic multisystem disorders that arise from defective glycoprotein biosynthesis. Although ocular abnormalities have been described in patients with CDG-I, few ocular abnormalities have been associated with ALG12-CDG (CDG-Ig), a rare subtype of CDG-I. We report a case of Duane syndrome, a congenital strabismus syndrome, in a 17-year-old young woman with ALG12-CDG.

Initiation of retinopathy of prematurity screening examinations in extremely premature infants.

PURPOSE: To determine whether extremely premature infants require screening for retinopathy of prematurity (ROP) if <31 weeks' postmenstrual age (PMA). METHODS: The medical records of infants born in community hospital settings at <31 weeks' gestational age (GA) were reviewed retrospectively. Prevalence and progression of ROP in infants born at <24 weeks' GA were compared with infants born at 24-30 weeks' GA. RESULTS: A total of 2,061 records were reviewed: 1,969 infants were born at 24-30 weeks' GA; 92, at <24 weeks. Infants born <24 weeks' GA were more likely to develop pre-plus and plus disease or require treatment than infants born 24-30 weeks' GA (P < 0.0001) and did so earlier (P = 0.0001). Eight infants developed pre-plus or greater ROP <31 weeks' PMA; 6 were born <24 weeks' GA. Three infants developed plus disease or required treatment <31 weeks' PMA, the earliest at 27 and 3/7 weeks. CONCLUSIONS: Clinicians should consider initiating ROP screening examinations before 31 weeks' PMA, particularly for infants born <24 weeks' GA and those with lower birth weights.

An unexpected turn: a case of torsional anomalous retinal correspondence after myectomy of previously anteriorized inferior oblique muscles in a child.

We report a case of torsional diplopia caused by presumed torsional anomalous retinal correspondence after myectomy of previously asymmetrically anteriorized inferior oblique muscles for inferior oblique overaction. Given this patient's experience, it may be prudent to operate with caution on previously anteriorized inferior oblique muscles, especially when anteriorization is performed at a very young age.

The Nictavi Tarsus Patch: A New Device for Achieving Temporary Eyelid Closure in Lagophthalmos.

Purpose: To evaluate the effectiveness, tolerability, and safety of the Nictavi Tarsus Patch™ (NTP) in inducing temporary eyelid closure for the management of lagophthalmos in the pediatric and young adult population. Methods: We prospectively enrolled 20 patients <21 years of age who had previously been managed for lagophthalmos to trial the NTP in clinic. Inter-palpebral fissure distance (IPFD) was compared before and after the placement of the NTP in the eyes-closed position using paired t-tests. Subjects then underwent a 3-night home trial with the NTP, and parent and subject perceptions of effectiveness, comfort, and complications with the patch were analyzed using Likert scale survey questions. Results: Twenty subjects ages 2-20 years with paralytic (65%) and non-paralytic (35%) lagophthalmos were enrolled. The NTP improved lagophthalmos from a mean pre-placement IPFD of 3.3 mm to post-placement IPFD of 0.4 mm (p < 0.01). Overall, 80% of subjects achieved successful eyelid closure defined as ≤1 mm of post-placement IPFD. When stratified by subtype, 100% of subjects with paralytic lagophthalmos achieved successful eyelid closure compared to 71% of subjects with non-paralytic lagophthalmos. On a scale of 1 (worst) to 5 (best), parents rated the NTP at 4.3±0.7 for comfort while wearing, 4.3±1.0 for comfort in removing, 4.6±0.7 for ease of use, and 4.3±0.9 for effectiveness. Ninety-three percent of parents reported preferring NTP to other eyelid closure methods previously tried and indicated that they would use it again. Conclusion: The NTP is an effective, tolerable, and safe method of eyelid closure for children and young adults.

Optical Biometry Changes Throughout Childhood and Adolescence in Patients Wearing Ortho-K Lenses.

Background: Orthokeratology has been shown to suppress progressive myopia in some children. We examine the changes in optical biometry parameters in orthokeratology (Ortho-K) patients, in a retrospective longitudinal study at a tertiary eye care center in Ann Arbor, MI, USA. Methods: Optical biometry measurements obtained with the Lenstar LS 900 (Haag-Streit USA Inc, EyeSuite software version i9.1.0.0) were aggregated from 170 patients who had undergone Ortho-K for myopia correction between 5 and 20 years of age. Pre-intervention biometry measurements were compared with follow-up measurements done 6-18 months after initiation of Ortho-K. Linear mixed models were used to quantify associations in biometry changes with age of intervention allowing for correlation between measurements on two eyes of the same patient. Results: A total of 91 patients were included in the study. Axial length increased through the age of 15.7 ± 0.84 years for Ortho-K patients at our center. The growth curve in our Ortho-K population was comparable to previously published normal growth curves in Wuhan and Germany populations. Corneal thickness and keratometry decreased at a stable rate regardless of age of intervention (-7.9 µm, 95% CI [-10.2, -5.7], p < 0.001). Conclusion: In our population, Ortho-K did not appear to affect the overall trajectory of axial length progression when compared to normal growth curves, despite showing a previously described reduction in corneal thickness. As Ortho-K has been shown to have varying effects that differ from individual to individual, it continues to be important to reassess its effects on new populations to better understand its ideal uses.

Feasibility of asynchronous video-based telemedicine in the diagnosis and management of paediatric blepharoptosis.

INTRODUCTION: The purpose of this study was to assess the validity of using video glasses as part of an asynchronous telemedicine screening protocol for paediatric blepharoptosis. METHODS: A physician assistant wearing Pivothead SMART Series glasses recorded videos of paediatric patients referred for blepharoptosis in primary, down and upgaze while holding a ruler next to the eyes. An oculoplastic surgeon viewed the stored videos and recorded margin-reflex distance 1 and levator function. Using these measurements, the surgeon determined whether surgical intervention was recommended and, if so, which procedure was recommended. The surgeon recorded the same parameters for each patient based on an in-person examination performed later that day. Videos were reviewed eight months later and the same parameters were recorded. RESULTS: Twenty-nine children (n = 58 eyes) were enrolled. Margin-reflex distance 1 and levator function measurements based on same-day video review agreed with in-person examination 94.8% (intraclass correlation coefficient = 0.82) and 98.3% (intraclass correlation coefficient = 0.96) of the time, respectively. Margin-reflex distance 1 and levator function measurements based on later video review agreed with in-person examination 93.1% (intraclass correlation coefficient = 0.85) and 94.8% (intraclass correlation coefficient = 0.93) of the time, respectively. Agreement in identifying surgical candidates was almost perfect (= = 0.93) for same-day video review and substantial (= = 0.73) for later video review. Sensitivity of identifying surgical patients was 100% for both same-day video review and later video review; though specificity was lower at 94.1% for same-day video review and 76.5% for later video review. DISCUSSION: Asynchronous telemedicine encounters employing video glasses are a useful screening modality for identifying surgical paediatric blepharoptosis patients.

Evaluation of digital slit-lamp videos for paediatric anterior segment telemedicine consultations.

INTRODUCTION: This study aimed to assess the validity of telemedicine consultations using digital slit-lamp videos to detect anterior segment pathology in a paediatric population. METHODS: A paediatric anterior segment specialist simultaneously performed and recorded anterior segment examinations using the Topcon digital-ready slit lamp. Components of the examination included the eyelids/eyelashes, conjunctiva/sclera, cornea, anterior chamber, iris and lens. Masked to clinical findings, a paediatric ophthalmologist reviewed and graded the live video feed transmitted at 4 Mbps. At least three months later, both ophthalmologists graded the stored videos. We compared the sensitivity, specificity, percent agreement and weighted kappa (κ) of diagnosing anterior segment pathologies via live-streamed and store-and-forward video clips compared to the in-person standard examination. RESULTS: Examinations of 89 eyes from 45 children (5-17 years old) with known anterior segment pathology were included. Agreement between live-streamed and in-person standard examinations for conjunctiva/sclera, anterior chamber, iris and lens findings was almost perfect (sensitivity 89-96%, specificity 95-100%, κ = 0.87-0.97). Substantial agreement was found for cornea pathology (sensitivity 88%, specificity 90%, κ = 0.72), and moderate agreement was found for eyelids/eyelashes pathology (sensitivity 54%, specificity 92%, κ = 0.46). Store-and-forward results were similar, though slightly better for eyelids/eyelashes and slightly worse for conjunctiva/sclera. DISCUSSION: Digital slit-lamp videos hold promise for synchronous and asynchronous telemedicine in diagnosing paediatric anterior segment pathologies.

Evaluation of Streamed Hardware-to-Software Telemedicine Strabismus Consultations Utilizing Video Glasses.

Background: While video glasses have been shown to be an effective tool for real-time pediatric strabismus telemedicine consultations, the high cost of the hardware-to-hardware conferencing system and bandwidth limitations may present barriers to accessibility and widespread adoption. This study evaluates the use of video glasses with a more affordable hardware-to-software video conferencing system for real-time strabismus consultations across multiple graders. Methods: A pediatric ophthalmologist (Grader 1) wearing video glasses simultaneously performed and recorded strabismus examinations in primary gaze, with and without correction, both at distance and near. Recorded parameters included strabismus category, angle measurements, and ocular motility. Three years later, four pediatric ophthalmologists (Graders 1-4) reviewed and graded streamed video feed transmitted at 1 megabit per second (Mbps) from a hard-wired codec to software. Agreement between streamed and gold standard in-person findings was determined by weighted kappa (κ) for categorical variables, intraclass correlation coefficient (ICC) for continuous variables, and percent agreement. Results: Eighteen patients aged 4-11 years (median, 7 years) were included. Agreement in strabismus category between in-person and streamed examinations was perfect for both horizontal and vertical deviations (κ=1.0). Almost perfect agreement was found for degree manifest (tropia vs intermittent tropia vs phoria) across graders (κ=0.91, range 0.86-0.97). Agreement for angle measurements was excellent across graders (ICC = 0.97, range 0.97-0.98). Extraocular motility agreement was 90% for all graders combined, with Grader 1 having 100% agreement between her in-person and streamed examinations. Conclusion: Feed obtained from video glasses streamed through a hardware-to-software video conferencing system at 1 Mbps is a reliable tool for pediatric strabismus telemedicine evaluations.

Patient and Provider Experience in Real-Time Telemedicine Consultations for Pediatric Ophthalmology.

Purpose: Telemedicine adoption hinges on positive experiences for patients and providers. We report participants' experience from our prospective study. Patients and Methods: Ophthalmic examinations for children 0-17 years of age were conducted by an optometrist using digital exam instruments and streamed to an ophthalmologist. The ophthalmologist, optometrist, parent, and patient (≥10 years) completed surveys capturing patient and provider experience outcomes. Results: Three hundred forty-eight examinations were conducted with 210 patients in a hospital-based pediatric ophthalmology clinic. About 99% of parents were comfortable with exam quality, and 97% indicated they would have another telemedicine examination. Fifty-four of 55 consented for surgery during the initial telemedicine examination. Thirty-seven percent of families traveled ≥2 hours round-trip to their appointment; 1/3 of parents and patients missed a full day of work/school. Video glasses were by far the most useful instrument, while technical proficiency was most challenging with the digital indirect ophthalmoscope. Problem-focused examinations took 33 minutes of the ophthalmologist's time on average. Equipment challenges caused delays in 40/348 (11.5%) of visits, with the majority lasting 5-10 minutes. In a few cases, a backup device was used. Despite seeing significantly fewer patients on telemedicine days, the ophthalmologist's surgical volume increased 25%. Conclusion: All participants were satisfied with telemedicine visits despite longer durations and learning curve. Results indicate an opportunity for telemedicine in community settings to improve access to specialized care. Telemedicine enabled the optometrist to manage or co-manage more complex patients with a pipeline to the ophthalmologist for surgical cases. In the right setting, collaborative telemedicine consultations may be beneficial to one's practice.

Provider-to-provider synchronous telemedical consultations in ophthalmology: Advice for implementation.

We previously demonstrated the non-inferiority of a synchronous (real-time) telemedicine model (compared to gold standard in-person examination) for pediatric ophthalmology consultations using a Polycom conferencing system, smart glasses, digital slit lamp, and digital indirect ophthalmoscope. Although we acknowledge there is a learning curve associated with becoming proficient with this system, we believe implementation of a synchronous telemedicine model is advantageous to both patient and provider in the right care setting. In conducting 348 such examinations over the course of our study and dozens of subsequent examinations after the implementation of our model in the community, we have gleaned many insights into optimizing the experience and efficiency. We wish to share these insights to help guide those interested in adopting such a model to expand access to specialists for underserved patients or improve efficiencies in their practice.

Pattern and prevalence of eye disorders and diseases in school-aged children: findings from the Nationwide School Sight Sampling Survey in Armenia.

Objective: This study aims to identify the prevalence of eye disorders and their causes among secondary schoolchildren aged 6-15 years old in Armenia, based on analysis of the Nationwide School Sight Sampling Survey. Methods and Analysis: A two-stage proportionate stratified cluster sample was designed for the survey. 22 600 students were screened for visual acuity in schools; 5944 of them were selected for analysis as a nationally representative sample. Those with 20/40 or worse vision were referred to photoscreening and rapid ophthalmic assessment in schools and then were provided with vouchers for free comprehensive eye examination in eye clinics. Data were collected through data collection forms and analysed using SPSS V.23. Results: While majority of the children (85%) had normal vision, 15% had a visual acuity ≤20/40. The prevalence of vision impairment (VI) in at least one eye was 9.7% and blindness in at least one eye was 0.05%. The prevalence of abnormal vision and VI was higher among girls and older children. VI was more prevalent in urban areas. The most common diagnoses were myopia (60%), astigmatism (33.7%), hyperopia (29.5%) and strabismus (3.8%). Conclusion: Majority of the vision abnormalities and VI among schoolchildren are a result of refractive error and are treatable. Our results highlight the importance of regular eye examinations for schoolchildren to detect and prevent VI. Raising awareness among parents, school staff and children about eye health is vital.

Evaluation of real-time video from the digital indirect ophthalmoscope for telemedicine consultations in retinopathy of prematurity.

INTRODUCTION: This study aimed to evaluate the validity of using real-time video indirect ophthalmoscopy for telemedicine consultations for paediatric retinal findings, using retinopathy of prematurity (ROP) as a model disease. METHODS: An ophthalmologist simultaneously performed and recorded routine ROP screenings on enrolled premature infants (aged ≤30 weeks and weighing <1500 g) using the Keeler digital indirect ophthalmoscope. Examinations were graded as no ROP, mild, type 1 or type 2. Masked to clinical findings, another ophthalmologist reviewed and graded streamed video feed transmitted at 4096 kbps. We compared the sensitivity and specificity of diagnosing ROP via streamed and stored-and-forwarded video clips to the gold-standard in-person examination. RESULTS: A total of 150 examinations of individual eyes from 34 babies were included. The median postmenstrual age (PMA) at delivery was 24 weeks (range 23-34 weeks), the median birth weight was 630 g (range 455-1530 g) and the median PMA at examination was 37 weeks (range 31-54 weeks). Of those infants with any ROP, the sensitivity and specificity of streamed examinations were 100% and 70.6%, respectively. For type 2 or worse ROP, the sensitivity and specificity were 92.5% and 86.1%, respectively. For type 1 ROP, the sensitivity and specificity were 100% and 99.3%, respectively. Sensitivities (unless already 100%) and specificities were slightly higher for store-and-forward evaluations. DISCUSSION: Streamed video feed from the digital indirect ophthalmoscope can be utilised to diagnose clinically significant ROP accurately, though store-and-forward video review yielded slightly better results.

Reliability of telemedicine for real-time paediatric ophthalmology consultations.

BACKGROUND/AIMS: To assess the accuracy of real-time telemedicine to diagnose and manage paediatric eye conditions. METHODS: Design: Prospective, non-inferiority study analysing agreement in diagnoses and management plans between telemedicine and in-person examinations. Setting: Paediatric ophthalmology clinic. Population: Children 0-17 years, English-speaking or Spanish-speaking, able to participate in age-appropriate manner, either previously seen by the optometrist and required ophthalmology referral or newly referred from outside source. Procedures: Paediatric optometrist conducted examinations using digital equipment and streamed live to a paediatric ophthalmologist who recorded diagnoses and management plans, then re-examined patients in-person. Subjects were masked to the fact they would see the ophthalmologist in-person, same-day. Main outcome measures: Discrepancy in management plan or diagnosis between telemedicine and in-person examinations. Non-inferiority threshold was <1.5% for management plan or <15% for diagnosis discrepancies. RESULTS: 210 patients participated in 348 examinations. 131 (62.4%) had strabismus as primary diagnosis. In these patients, excellent and almost perfect agreement was observed for angle measurements (intraclass correlation coefficients=0.98-1.00) and disease categorisation (kappa=0.94-1.00) (p<0.0001 in all cases). No primary diagnoses changed, and no management plans changed following in-person examination. 54/55 patients who consented for surgery at the initial visit did so while masked to receiving an in-person examination. Families felt comfortable with the quality of the telemedicine examination (98.5%) and would participate in another in the future (97.1%). CONCLUSION: Paediatric ophthalmic conditions can be reliably diagnosed and managed via telemedicine. Access for underserved populations may be improved by collaboration between ophthalmologists and optometrists using this technology.

Evaluation of high-definition video smart glasses for real-time telemedicine strabismus consultations.

PURPOSE: To evaluate the use of high-definition, wireless video recording Pivothead glasses in streamed strabismus examinations. METHODS: A pediatric ophthalmologist wearing Pivothead glasses simultaneously performed and recorded strabismus examinations, which were completed in primary gaze, with and without correction, and at distance and near. Parameters included category of strabismus, angle measurements, and ocular motility. Another pediatric ophthalmologist, masked to clinical findings, reviewed and graded live video feed. At least 3 months later, both pediatric ophthalmologists graded the stored videos. Agreement was determined by unweighted kappa for categorical variables, intraclass coefficient for continuous variables, and percent agreement. RESULTS: A total of 100 videos were recorded for 37 enrolled patients aged 4-16 years. Agreement between streamed and in-person examinations was perfect for both horizontal and vertical (κ = 1.0) deviations. Agreement for degree manifest (tropia vs intermittent tropia vs phoria) was almost perfect for all deviations (κ = 0.94). Agreement was excellent for angle measurements of both horizontal (ICC = 0.95) and vertical (ICC = 0.91) deviations. Inferior and superior oblique agreement was 93% and 98%, respectively. Similar agreement was also observed between store-and-forward versus gold standard examinations. CONCLUSIONS: Real-time video feed obtained with video glasses can be read with a high degree of reliability for detecting strabismus category, angle, and extraocular motility.

Ocular manifestations of genetic skin disorders.

Genetic skin diseases, or genodermatoses, often have extracutaneous manifestations. Ocular manifestations in particular can have significant clinical implications, like blindness. Other manifestations, such as the corneal opacities that occur in X-linked ichthyosis, are asymptomatic but characteristic of a particular genodermatosis. Ophthalmologic examination can aid in diagnosis when characteristic findings are seen. The genodermatoses with ocular manifestations will be reviewed, but neurocutaneous, syndromes, genetic pigmentary disorders, and genetic metabolic diseases are not included because they are covered elsewhere in this issue.

Pediatric genetic macular and choroidal diseases.

Genetic diseases of the macula and choroid have various inheritance patterns and varying degrees of impact on vision. Herein, we review the literature including most recent advances in the understanding of the genetics of these diseases. Although many of these disorders have limited treatment options, knowledge of inheritance patterns can aid in early detection and with close monitoring can help the ophthalmologist preserve as much vision as possible (for example with early treatment of choroidal neovascularization).

Eye findings in X-linked lymphoproliferative disorder.

BACKGROUND: X-linked lymphoproliferative disorder typically presents as an Epstein-Barr virus-specific immune defect with a poor prognosis. Herein we present the clinical and pathologic findings for the first known case of X-linked lymphoproliferative disorder with visual symptoms at initial presentation. METHODS: Retrospective chart review, clinicopathologic correlation (brain biopsy and postmortem brain and eye tissue), and literature review. RESULTS: An 18-year-old boy had a unique presentation of X-linked lymphoproliferative disorder with visual symptoms and retinal findings. He subsequently developed central nervous system vasculitis. He never had evidence of Epstein-Barr virus infection during his clinical course, but in situ hybridization was positive in scattered cells in the brain postmortem. Eye pathologic examination at autopsy showed ischemic changes, but no inflammation. CONCLUSION: When a young patient presents with cotton wool spots, a thorough workup must be done, and immunologic disorders should be considered in the differential diagnosis. X-linked lymphoproliferative disorder-associated eye findings may not always be associated with Epstein-Barr virus infection and, as demonstrated by this case, can be indicative of an underlying vasculitic process.