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Purpose: The aim of this study was to evaluate how prevalent asymptomatic SARS-CoV-2 virus infection (COVID-19) is among patients undergoing ophthalmic surgery at two tertiary referral hospitals. Material(s) and Method(s): This retrospective study included patients without COVID-19 symptoms who underwent preoperative screening using reverse transcription-polymerase chain reaction (RT-PCR) before ophthalmic surgery at the Kocaeli University and Gaziantep University departments of ophthalmology [between September 1, 2020, and December 15, 2020 (group 1);between March 1, 2021, and May 30, 2021 (group 2)]. Patients scheduled for surgery and followed up in the retina, glaucoma, pediatric ophthalmology and strabismus, cataract and refractive surgery, and cornea departments were examined. Result(s): RT-PCR was positive for SARS-CoV-2 in 12 (1.4%) of 840 patients in group 1 and 7 (1.1%) out of 600 patients in group 2. None of the patients were symptomatic of COVID-19. The majority of the patients were scheduled for retina or cataract and refractive surgery in both groups (group 1;retina: 29.2%, cataract and refractive: 57.0%, group-2;retina: 31.3%, cataract and refractive: 54.5%). SARS-CoV-2 RT-PCR testing was positive for seven patients in group 1 (7/245, 2.9%) and five patients in group 2 (5/188, 2.6%) who were scheduled for retinal surgery. Conclusion(s): The necessity, availability, and practicality of COVID-19 RT-PCR testing prior to ophthalmic surgeries varies depending on the protocols of each institution. COVID-19 RT-PCR testing is suggested especially before vitreoretinal surgeries and general anesthesia procedures, because of the difficulty in managing postoperative complications.Copyright © 2023 Gazi Eye Foundation. All rights reserved.
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A 74-years-old man experienced severe diplopia one month after recovery from an uncomplicated SARS-CoV-2 infection. Neurological examination was normal whereas ophthalmological examination showed bilateral exophthalmos with a complex ocular motility disorder characterized by a pseudo-internuclear ophthalmoplegia after fatigue associated to impairment of elevation and infraduction. Antibodies against TSH and acetylcholine receptors were positive; subsequent hormonal tests, ultrasonography of thyroid gland, single fiber electromyography and orbit MRI confirmed the diagnosis of concomitant Graves Disease (GD) and Myasthenia Gravis (MG). The coexistence between MG and GD is not rare but simultaneous onset after viral infection is very unsual. The complex ocular disorder simulated a deficit of the oculomotor nerve nuclei, and on clinical examination it posed some problems in the diagnosis. We suggest that recent SARS-COV-2 infection may have triggered a complex autoimmune response.
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Aim: To report a case of two siblings who near-simultaneously developed a large angle concomitant esotropia during the COVID-19 pandemic, and to describe their treatment and outcomes. Method: A 5-year-old boy and his 11-year-old sister were presented to the hospital eye service in early 2021, having both developed acute-onset large angle esotropia within three months of each other. Neither had any significant past medical, ophthalmic, or family history. The siblings lived in the same household, and both experienced lifestyle changes as a result of the UK lockdown in response to COVID-19. Results: Each sibling was treated with right medial rectus recession (5.5 mm) and right lateral rectus resection (7 mm), and at a three-month follow-up, both were minimally esophoric with restored binocularity. Conclusion: The unusual and abrupt changes in lifestyle imposed by the COVID-19 pandemic highlight the likelihood of an environmental aetiology for some forms of esotropia and raise the possibility that extended screen time may be a contributory factor.
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PURPOSE: To evaluate whether strabismus surgery improves the learning performance - calculation, reading and drawing - of school-aged children. METHODS: In a case-control study, patients between the ages of 7 and 10 years with horizontal strabismus, recommended for surgical correction, were prospectively included. Reading, calculating and drawing abilities were evaluated before and 3 months after corrective strabismus surgery using standardized tests. Cases were compared to control patients: patients with a surgical indication postponed due to the COVID lockdown. RESULTS: Forty-two operated patients and 42 controls between the ages of 7 and 10 years with horizontal strabismus were included. The average reading speed was 65.8 words per minute pre-operatively compared to 80.6 words per minute post-operatively (p = 0.0038). The average drawing score was 71.1 pre-operatively compared to 84.3 post-operatively (p = 0.012). The average calculation score was 3.2 pre-operatively compared to 3.4 post-operatively (p = 0.363). Improvement given by strabismus surgery was confirmed avoiding the learning effect by comparison with the control group. The improvements observed were more significant in the youngest patients and esotropia. CONCLUSIONS: This study highlights that strabismus surgery significantly improved the children's reading fluency and drawing task execution. These encouraging data should be taken into account when considering the indications for strabismus surgery.
Subject(s)
COVID-19 , Esotropia , Strabismus , Humans , Child , Case-Control Studies , Ophthalmologic Surgical Procedures , Communicable Disease Control , Oculomotor Muscles/surgery , Strabismus/surgery , Esotropia/surgery , Retrospective Studies , Vision, BinocularABSTRACT
The coronavirus disease (COVID-19) with its rapid spread and high mortality rate has caused major disruptions. It involves the nervous system. COVID-19 also causes infection in the brain stem which may influence chemosensory neural cells related with respiratory and cardiovascular regulation and also neurons of the respiratory center. This study evaluates the effects of COVID-19 on neurological complications and cognitive. Several studies were reviewed for the effects of COVID-19 on neurological complications and cognitive function. COVID-19 causes signs such as headache, altered mental status, anosmia, myalgia, ischemic stroke, developed cerebral hemorrhage, and cerebral venous sinus thrombosis, olfactory disorders, anosmia, losing taste, mental retardation, migraine, Guillain-Barre syndrome, encephalopathy, severe abduction deficits in both eyes, esotropia, epilepsy, hypogeusia, hyposmia, faulted consciousness and seizures. It also caused cognitive function such as Alzheimer's disease, cognitive worsening, depression, anxiety, tiredness, anxiety, decrease in BDNF, stress and fatigue. In conclusion, COVID-19 causes negative effects on neurological system and cognitive function which must be considered for the treatment of the disease in alongside clinical treatments. Copyright © 2022 Wolters Kluwer Medknow Publications. All rights reserved.
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Due to the COVID-19 pandemic, the necessity for a contactless biometric system able to recognize masked faces drew attention to the periocular region as a valuable biometric trait. However, periocular recognition remains challenging for deployments in the wild or in unconstrained environments where images are captured under non-ideal conditions with large variations in illumination, occlusion, pose, and resolution. These variations increase within-class variability and between-class similarity, which degrades the discriminative power of the features extracted from the periocular trait. Despite the remarkable success of convolutional neural network (CNN) training, CNN requires a huge volume of data, which is not available for periocular recognition. In addition, the focus is on reducing the loss between the actual class and the predicted class but not on learning the discriminative features. To address these problems, in this paper we used a pre-trained CNN model as a backbone and introduced an effective deep CNN periocular recognition model, called linear discriminant analysis CNN (LDA-CNN), where an LDA layer was incorporated after the last convolution layer of the backbone model. The LDA layer enforced the model to learn features so that the within-class variation was small, and the between-class separation was large. Finally, a new fully connected (FC) layer with softmax activation was added after the LDA layer, and it was fine-tuned in an end-to-end manner. Our proposed model was extensively evaluated using the following four benchmark unconstrained periocular datasets: UFPR, UBIRIS.v2, VISOB, and UBIPr. The experimental results indicated that LDA-CNN outperformed the state-of-the-art methods for periocular recognition in unconstrained environments. To interpret the performance, we visualized the discriminative power of the features extracted from different layers of the LDA-CNN model using the t-distributed Stochastic Neighboring Embedding (t-SNE) visualization technique. Moreover, we conducted cross-condition experiments (cross-light, cross-sensor, cross-eye, cross-pose, and cross-database) that proved the ability of the proposed model to generalize well to different unconstrained conditions. [ FROM AUTHOR]
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Purpose: The eye surgeon's unique microsurgical skillset is developed over time from repeated and meticulous training on delicate ophthalmic tissue. The impact of COVID-19 on the delivery of regular ophthalmology services has impacted the exposure and available opportunities for skills development in the trainee. Adopting ophthalmic surgery teaching models and simulators as training resources provides solutions to enhance microsurgical skills of the trainee operating in a pandemic. Method(s): A literature search was performed to identify ophthalmic surgery skills training resources. We included prosthetic, harvested produce, non-live animal, and virtual reality and simulation devices. Human cadaveric models were excluded. Result(s): Several established and novel ophthalmic surgery training resources were identified. Low-cost prosthetic models and tissue substitutes are available to develop basic microsurgical and tissue handling skills. Harvested produce, non-live egg, porcine products, and sophisticated virtual reality devices imitate various aspects of ophthalmic tissue to allow simulation of ophthalmic surgery of varying complexity including cataract, corneal, glaucoma, vitreoretinal and strabismus surgeries. The use of ophthalmic skills training devices improved skills of trainee eye surgeons. Conclusion(s): A wide range of ophthalmic surgery training resources are available to both the individual trainee and the training organisation, and provide a wide range of accessible, evidenced solutions to augment surgical skill development not only during the pandemic but also beyond.
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Background: The Sheffield Virtual Adult Strabismus service was already well established and was put to real-time trial during the COVID-19 pandemic. We describe a multi-disciplinary adaptation to offer a safe and effective service delivery. We evaluate the efficacy of a virtual strabismus service during the pandemic to meet clinical demand, streamline patient care, balance care delivery and optimise medical input. Methods: Prospective data analysis from the virtual strabismus clinics dated from January 2015 to November 2021. All information was captured at first consultation with comprehensive specialist Orthoptic assessment and imaging; then reviewed by a strabismus consultant for clinical outcome. Management was discussed virtually with patients by the consultant. Results: Pre-COVID (January 2015-March 2020), 1,068 appointments were offered. During COVID (July 2020-November 2021), 442 appointments were offered. Clinical capacity increased to meet demand. Within two months of service re-opening, first appointment mean waiting time reduced below 18 weeks. During COVID, 24.6% of patients were listed for procedures after first visit. Face-to-face medical follow up for non-surgical cases reduced from 47.7% to 16.3%. Conclusion: Virtual strabismus services offer flexible, safe and effective ways to meet fluctuating referral patterns and maximise limited time and resources. Orthoptists are uniquely essential and highly valued keyworkers to conservatively manage non-surgical strabismus. Utilising the skillsets of Allied Health Professionals (AHPs) across the NHS is crucial to sustain ongoing clinical demand and patient care.
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Purpose : The use of video consultations was scaled urgently at Moorfields Eye Hospital due the COVID-19 pandemic, and has been sustained within the Trust. This provision was much needed and initiated without the usual stakeholder engagement. Digital exclusion will drive health inequalities in our patients, unless we fully understand it and create solutions to make our services accessible for all. The aim of the project is to understand the reasons why patients failed to utilise digital services during the pandemic. Methods : A retrospective analysis of all patient-initiated video consultation cancellations from December 2020 to November 2021 was undertaken. All rebooked appointments were excluded from analysis. Reasons for cancellation were extracted from the Patient Appointment System (PAS) to identify those who were digitally excluded. Patients who had opted out of data sharing or cancelled their video consultation but had attended another subsequent appointment were excluded from the analysis for digital exclusion. Results : Over a 1-year period, 10,457 video consultations were undertaken at Moorfields Eye Hospital. 5% (535) of appointments were cancelled by patients. Of these, 14% (73 patients) were digitally excluded. Digital exclusion was due to 3 main factors;lack of resources (53%), lack of skills (19%), lack of trust in the video consultation model (19%), or a combination of these factors (9%). The age range of digitally excluded patients was 9 to 89 years old. Those most digitally excluded were the 70-79 year olds (26%, 19 patients). The least digitally excluded age group were the 20-29 years olds (1%, 1 patient). In terms of sub-speciality, 52% (38 patients) were from the adnexal service, 27% (20 patients) from general ophthalmology, 12% (9 patients) from paediatric ophthalmology, and the remainder from ocular oncology (4%), strabismus (3%) and medical retina (1%). Conclusions : The reasons for digital exclusion are complex, but need to be understood and addressed, if we are to continue to scale digital services in the health sector and without widening health inequalities. Our work identified 3 main factors, with lack of resources being the overarching reason. Further implementation research in the fields of digital resource provision coupled with education may enable greater inclusion of this group of patients and enhance digital healthcare provision equality.
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Purpose : To explore whether the COVID-19 lockdown increased the incidence of myopia among age-school children. Methods : Retrospective study recruiting children aged 5-12. Selection: random. Inclusion criteria: healthy children presenting for an eye exam since 2016. Exclusion criteria: presence of ocular comorbidities other than refractive error, spherical equivalent (SE) less than -4D or greater than +4D, BCVA less than 20/20, blepharoptosis, media opacities, corneal or retinal dystrophies, strabismus, amblyopia, nystagmus, or concurrent therapy with atropine 0.01%. Outcome measure: age measured in months, SE of the right eye (RE) measured in diopters (D) under cycloplegia (cyclopentolate 1%). Statistical analysis: ANOVA, Chi-square, Tukey's test. Significance: p < .05. Results : A total of 803 children. In the years prior to COVID-19, the mean SE ± SD diopters in the RE: 0.54 ± 1.49 D in 2016 (n = 160), 0.43 ± 1.84 D in 2017 (n = 145), 0.34 ± 1.41 D in 2018 (n = 152), 0.35 ± 1.75 D in 2019 (n = 166) (ANOVA, p = .659) (Fig. 1). In 2021 (n = 180), the mean SE was -0.08 ± 1.44 D (ANOVA, p = .005). Using the Tukey's test, the mean SE of 2021 changed by -0.619 D 95% CI [-1.091, -0.147] and -0.501 D 95% CI [-0.986, -0.016] as compared to the SE of 2016 and 2017, respectively (Fig. 2). Mean age was comparable in all groups (ANOVA, p = .307). The decrease of the mean SE of the 2021 group corresponds to an increase in the percentage of myopes (≤-0.5D) and a decrease in the percentage of hyperopes (≥ 2D). Myopes represent the 24.10% of children aged 60-96 months, and 63.86% of children aged 97-144 months. Hyperopes represent 9.64% of children aged 60-96 months, and 6.02% of children aged 97-144 months. This represents a statistically-significant increase in the number of myopes (Chi-square, p = .016) and decrease in the number of hyperopes (Chi-square, p = .001), as compared to the previous years (2016- 2019). Conclusions : This retrospective study shows a statistically-significant decrease in the mean SE in children aged 5-12 in the year following the COVID-19 lockdown (2021). The percentage of myopes has increased significantly, while the percentage of hyperopes has decreased. Children aged 8-12 years showed the greatest refractive change. The lifestyle changes imposed by the lockdown were likely responsible for the increased prevalence of myopia observed in 2021.
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We piloted an innovation in teaching by conducting live virtual bedside clinics and evaluated the effectiveness compared to conventional bedside clinics. The purpose is to report the methodology and survey results of this innovation in teaching. A virtual bedside clinic was set up utilizing multiple audio-visual aids at a tertiary eye care facility. The bedside clinic was conducted and streamed live to pre-registered participants across the globe using the Zoom platform. The online survey was conducted comparing its effectiveness with conventional bedside clinics. A total of five sessions were conducted. A total of 2058 participants registered (411/session), of which 938 (45.57%) attended (187/session). A total of 287 participants (30.6%) responded to the survey. The respondents included ophthalmology residents (43.4%), fellows (19%), sub-specialty ophthalmologists (15.4%), general ophthalmologists (12%), and optometrists (9%). More than 95% of the respondents felt that these clinics were equally effective/better in imparting the following: physical examination 97%, clinical knowledge 99.3%, clinical reasoning 98.3%, procedural skills 95%, and communication skills 96.5%. Respondents suggested that these clinics were better/equally effective in the following techniques: general examination (96%), ocular motility (93.3%), nystagmus evaluation (93.3%), and anterior (80%) and posterior segment examination (73.3%). The hybrid mode presentation (97.3%) and discussion with the panel (100%) were reported to be equally effective/much better. Live virtual bedside clinics are a novel and effective way of continuing quality teaching and impactful learning. Most of the bedside manners, procedural skills, and examination techniques can be effectively taught through this virtual platform with a scope to improve anterior and posterior segment examination skills.
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Ophthalmologists , Ophthalmology , Strabismus , Child , Humans , Learning , Ophthalmology/education , Physical ExaminationABSTRACT
Purpose. Theoretically substantiate and practically identify ocular manifestations after the transferred SARS-CoV-2 virus. Patients and methods. For the study we were invited patients who had recovered from SARS-CoV-2 at the hospital of V.M. Buyanova, the age from 20 to 65 years old in period from 2020 to 2021. The total number of patients was 68 people. The patients had with them the results of PCR tests or ELISA tests, or an extract from the hospital confirmed COVID-19 case and also a clinical blood test and CT scan of the chest organs for the period of illness. Before the start of the study, the patients were asked to fill out a questionnaire “Questionnaire for patients who have had a new coronavirus infection” (Appendix 1). For a detailed study of this group of people, each underwent visometry, pneumotonometry, B-scan, a slit lamp study and also a slit lamp study with a 60D lens using 0.5 % Mydriacyl eye drops in the absence of contraindications and pupillography. Results. As a result of the work carried out, we concluded that the virus is capable of causing inflammation of the choroid of the eyeball, uveitis. Moreover, in our study, we identified patients with acquired intermittent divergent strabismus, anisocoria, ptosis, and accommodation disorder. And, in this regard, we came to the conclusion that the coronavirus belongs to the group of neurotropic, as it is able to affect the nervous tissue and cause the above clinical picture. In other words, the virus negatively affects the somatic and autonomic innervation of the oculomotor nerve. As a result of these lesions, we get the corresponding tetrad of symptoms: heterotropy, mydriasis, ptosis, accommodation paralysis. Conclusions. One of the extraordinary complications of coronavirus infection is damage effect to the fibers of the oculomotor nerve, the signs include: strabismus, mydriasis, ptosis and accommodation paralysis. Thus, this clinical picture is associated with the affinity of the virus to the nervous tissue. And as a result, this ability of the virus can probably infect various areas of the brain, which will lead to corresponding complications, not only from the oculomotor nerve, but also from other cranial nerves with the manifestation of the corresponding symptoms, which in theory can aggravate the patient's condition, causing deep disturbances of motor and sensory innervation.
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Objective: To present a patient with acute-onset of multiple cranial neuropathies associated with recent COVID-19 vaccination. Background: Vaccine-associated neurologic adverse effects have been well-described over the decades;the influenza vaccine as well as others have been thought to precede Guillain-BarréSyndrome (GBS), Miller-Fisher Syndrome (MFS), and similar processes. Hyper-inflammatory responses have been frequently reported with SARS-CoV-2 infection and immunization, along with various neurologic pathologies. In this case report we describe a cranial polyneuropathy (3, 6, 7 and 12) associated with the COVID-19 vaccine. Design/Methods: Case Report with Video/Photos Results: A 52-year-old R-handed female presented with acute-onset, rapidly progressive deficits including left upper lid ptosis, left eye ophthalmoplegia, leftward tongue deviation, left facial paresis and dysarthria. History includes congenital left eye cataract s/p lens exchange, remote strabismus surgery and slight ptosis at baseline. She denied recent illness or injuries, though had completed single-dose vaccination for SARSCoV-2 11 days prior to symptom onset. Exam revealed new L eye esotropia with restriction in abduction and supraduction. Also noted was worsening of baseline ptosis, weak tongue protrusion with right-sided fasciculations and leftward deviation. Patient endorsed dysphagia and dysarthria. Workup consisted of three unexplanatory MRIs during week of symptom onset, lumbar puncture, evaluation by ENT and neuro-ophthalmology as well as other serum and CSF studies to investigate other autoimmune causes. Consent-obtained videos and photographs were taken for documentation/educational purposes. Follow-up visits revealed slow improvement starting three months after symptom onset. Conclusions: We outline a case of a female patient who presented with progressive, multiple cranial neuropathies with onset 11 days after single-dose SARS-CoV-2 vaccination. This constellation of symptoms in the setting of COVID-19 vaccination suggests propensity towards autoimmune neurologic processes. Further investigation is needed to determine the true incidence of similar polyneuropathies with the COVID-19 vaccine and to guide providers and patients to make informed decisions.
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Background/aim: Mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) is a rare clinicoradiological syndrome that typically presents with central nervous system symptoms such as loss of consciousness, seizure, headache, and ophthalmoparesis. Materials and methods: Here, we highlight the characteristics of this syndrome together with the clinical and MRI findings of 6 pediatric patients with MERS. Results: Between January 2017 and October 2020, 6 patients with MERS (3 boys and 3 girls) presented to our center. The mean age was 122 ± 54.6 (min-max: 44-180) months. None of the patients had a chronic disease. In our study, infectious agents were detected in 4 patients (66.6%), while noninfectious causes (one seizure and the other hyponatremia) were detected in two patients. All of our cases were discharged without any sequelae after an average of 12.1 ± 7 (min–max: 4–20) days of hospitalization. In 1 patient (case 6), control MRI could not be performed, and the radiological recovery of our other patients was shown to be between 14 days and 2 months. Conclusion: MERS is an acute encephalopathy with good prognosis and should be considered by neurologists in differential diagnosis due to its variable clinical presentation and specific MRI findings.
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Objectives: To evaluate the management of the pediatric ophthalmology and strabismus clinic when strict quarantine conditions were adopted during the coronavirus disease 2019 (COVID-19) pandemic in Turkey. Materials and Methods: The study presents a review of the patients examined during the quarantine period. All patients were assessed with the highest possible level of personal protection. Results: Ten patients (6 girls, 4 boys) with a mean age of 9 years (range: 2-16) were evaluated. The patients presented 3-20 days after symptom onset. Ocular misalignment and diplopia were the main symptoms. Four of the 10 patients were diagnosed with sixth cranial nerve palsy and three patients were diagnosed with acute-onset comitant esotropia. Six patients had significant cranial magnetic resonance imaging findings. Conclusion: Acute-onset neurological conditions are more common during the COVID-19 pandemic. These reports will contribute to global experience and understanding of COVID-19.
Subject(s)
COVID-19 , Esotropia , Strabismus , Acute Disease , Adolescent , COVID-19/epidemiology , Child , Child, Preschool , Female , Humans , Male , Pandemics , Retrospective Studies , Strabismus/diagnosis , Strabismus/epidemiology , Turkey/epidemiologyABSTRACT
Background: Freeman-Sheldon syndrome [distal arthrogryposis type 2A (OMIM #193700), DA2A, Freeman-Burian syndrome] is a rare autosomal dominant multiple pterygium syndrome caused by alterations in MYH3. The phenotypic features, particularly of the face, are distinct and easily recognizable, and the diagnosis can be confirmed with molecular gene analysis. Fetal ultrasound imaging may provide important diagnostic clues to facilitate the diagnostic process. Informed consent and parental permission were provided by the parents. Case presentation: The infant’s mother presented for a Maternal Fetal Medicine genetic counseling telehealth appointment (due to COVID-19 pandemic restrictions) as a G7P2132, 32-year old female who had insulin-dependent diabetes and thrombocytosis. Her partner was a 24-year old male with a history of hearing loss, a V-shaped palate, and a lower lip cleft. Gestational age was 14 4/7 weeks and the indications were: increased nuchal translucency, paternal complex medical history, maternal G6PD heterozygote, and recurrent pregnancy loss. During the genetic counseling session, the following were addressed: 1) Maternal heterozygote status for G6PD indicated that if the fetus was male, there was a 50% chance he would be affected with G6PD-deficiency;2) Increased nuchal translucency on fetal ultrasound (US) with measurement at 98th percentile is associated with an increased risk of chromosomal abnormalities, microdeletion/duplications, and Noonan syndrome. The patient reportedly had low risk cell-free DNA but results were not available to the counselor at the time of consult. The option for additional genetic screening and diagnostic testing was declined;3) Three first trimester pregnancy losses with the father of this baby (FOB) were addressed, and parents deferred chromosome analyses at the time;4) Mother shared FOB’s complex history of bilateral sensorineural hearing loss, V-shaped cleft palate, lower lip cleft, and micrognathia. However, father was not present during the telehealth encounter. Mother was counseled regarding the possibility of an autosomal dominant condition with the potential risk to the pregnancy of up to 50%. It was recommended that the FOB have a clinical genetics evaluation, which could potentially provide a specific diagnosis and inform recurrence risk and management guidance. Follow-up MFM genetic counseling telephone visit occurred with the mother at 31 6/7 weeks gestation due to multiple congenital anomalies evident on fetal ultrasound. A 25 week fetal ultrasound revealed hypotelorism and a thickened nuchal translucency. A repeat study at 29 weeks revealed a V-shaped palate with a possible cleft, micrognathia, and midline mandibular cleft. FOB’s history was revisited. It was determined that he had 3 previous “no shows” to Genetics clinic appointments and did not pursue evaluation after the last counseling appointment. Again, it was emphasized that in order to best make a diagnosis for the family, an affected person would need to undergo a thorough evaluation, including medical and family history review, physical examination, and any indicated genetic testing. The parents were comfortable with the likelihood that the baby had the same condition as the father, but variable expressivity and broad range pf phenotypic presentation were explained. Recommendations for postnatal evaluation of the infant and pertinent genetic testing were provided. Consultative Genetics evaluation of the infant at 2 days of age revealed a short, broad forehead with supraorbital fullness leading to a horizontal brow indentation;mask-like facial appearance;hypotelorism;very deep set eyes with blepharophimosis;deep, creased nasal bridge;small, upturned nose with hypoplastic alae and narrow nares;microstomia with pursed lips;glossoptosis;micrognathia;2 deep vertical chin creases;short neck with excess nuchal skin;inverted and wide spaced nipples;clenched hands with 5th digits overlying 4th and 2nd overlying 3rd, bilaterally;bilateral vertical talus;2nd toes longer and overlying rd toes;clinodactyly of 4th and 5th toes bilaterally;and deep gluteal crease with no visible sinus. There were no evident contractures. The father has a complex history with no medical assessments prior to age 18. He reported that he did “not look like anyone else” in his family. He has a diagnosis of autistic spectrum disorder, a submucous cleft, vision issues, hearing loss necessitating a hearing aid on the left, and a history of cholesteatomas and of mastoidectomy. On brief examination, he had a mask-like face, blepharophimosis, left microphthalmia, left esotropia, narrowing of his midface, deep vertical crease on the mandibular region, microstomia, broad great toes, single flexor creases on the thumbs, and contracture of right thumb. Maxillofacial CT of the infant revealed hypoplastic mandibular body, ramus, and condyles bilaterally with micrognathia and retrognathia;hypoplastic maxilla bilaterally;and enophthalmos with retracted appearance of globes in the bony orbits bilaterally. Multiple facial bone abnormalities were seen, including microsomia, micrognathia, retrognathia, orbital hypotelorism and enophthalmos Genetic testing was performed via a custom Whole Exome Slice at GeneDx laboratories and included the MYH3 and TNNI2 genes. Results revealed a heterozygous pathogenic change in MYH3 (c.2015 G>A;p. R6724) consistent with the diagnosis of Freeman-Sheldon syndrome. Conclusion: The presentation of “midline mandibular cleft” on fetal ultrasound was the most specific prenatal finding. This is a very rare fetal finding. Thus, it should prompt further evaluation to assess for true clefting versus ridging or creasing. Additionally, targeted assessment for other findings or clinical clues for Freeman-Sheldon syndrome, such as contractures, “windmill vane” hand, and mouth size, could aid in the differential diagnosis considerations and the diagnostic process. Admittedly, these are position and quality dependent, and are challenging to assess even in ideal situations. The phenotype of the father was immediately recognizable. However, due to COVID-19 pandemic restrictions, prior to the infant’s birth, only telehealth visits were conducted and the father’s participation was by telephone. This limited the ability to narrow the differential diagnosis without visualization of his distinct phenotypic features. Finally, missed opportunities to diagnose the father prior to this pregnancy occurred. Many clinics send “no show” letters to referring providers and patients, as we do. Emphasizing the importance of diagnosis prior to pregnancy for individuals concerned about having a genetic disorder should be considered as part of the information shared in these letters.
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The COVID-19 Pandemic has prompted substantial changes in the way ophthalmology is practiced globally. General guidelines on safe ophthalmic practice have been issued by various bodies across the globe including the All India Ophthalmological Society. While these are suitable to ophthalmology overall, they are not entirely suitable to a subspecialty practice, particularly pediatric ophthalmology, strabismus and neuro-ophthalmology, which entails dealing with children, surgery under general anesthesia and managing possible life threatening situations. A group of sub-specialists and anesthetists met virtually and arrived at a consensus with regard to practice and general anesthesia protocols pertaining to these subspecialties of ophthalmology. The recommendations made by the expert group are specific yet can be universally followed to ensure the best and safest outcome for the practitioner and patient alike. The recommendations pertain to listing conditions which need emergency or urgent care in the fields of pediatric ophthalmology and neuro-ophthalmology, precautions and technique of pediatric and neuro-ophthalmic eye examination and a protocol for delivering a safe general anesthesia for a pediatriceye surgery.
Subject(s)
Betacoronavirus , Coronavirus Infections/epidemiology , Disease Transmission, Infectious/prevention & control , Neurology/standards , Ophthalmology/standards , Pneumonia, Viral/epidemiology , Societies, Medical , Strabismus/therapy , COVID-19 , Child , Consensus , Coronavirus Infections/transmission , Disease Management , Humans , India , Pandemics , Pneumonia, Viral/transmission , SARS-CoV-2ABSTRACT
PURPOSE: The objective is to analyse and report the data of teleconsultations provided to paediatric ophthalmology and strabismus patients during COVID-19 times and to elaborate our experience for guiding future teleconsultation practices to General, paediatric Ophthalmologists and Strabismologists. METHODS: Retrospective analysis of electronic medical record data of teleconsultations provided in the department of Strabismus, Paediatric and Neuro-ophthalmology was done. Patients with optic nerve related disorders were excluded. Study period was one month. Statistical analysis of collected data was done using Microsoft excel. RESULTS: A total of 198 patients were provided teleconsultations (an average of seven teleconsultations/day). The final analysis included 161 patients after excluding optic nerve related disorders. The median age was seven years. We had a near equal gender distribution (53% males and 47% females) of whom a third were new cases. Video calling was used in 14%, review of clinical photos shared was used in 53%. Rest of the 33% were given telephonic advice. Allergic conjunctivitis (14%), pseudophakia (9%), strabismus (12%), status post strabismus surgery (8%), cranial nerve palsies (11%) were common diagnoses. 19% (n = 30) were advised/needed visit in emergency services on same or next day. CONCLUSION: Our experience of teleconsultation during COVID-19 times for paediatric ophthalmology and strabismus patients was very encouraging. Pivoting teleconsultation platform can provide primary eye care to most of the patients and work as essential forward triage for rest. As we continue to further explore the currently available avenues in multimedia such as video conferencing and web/mobile based applications, we believe that tele-ophthalmology platform can provide a reliable service in patient care.