Strabismus Research Articles

Non-surgical Management Options of Intermittent Exotropia: A Literature Review.

Purpose:To review current non-surgical management methods of intermittent exotropia (IXT) which is one of the most common types of childhood-onset exotropia.Methods:A search strategy was developed using a combination of the words IXT, divergence excess, non-surgical management, observation, overcorrecting minus lens therapy, patch/occlusion therapy, orthoptics/binocular vision therapy, and prism therapy to identify all articles in four electronic databases (PubMed, Web of Science, Google Scholar, and Scopus). To find more articles and to ensure that the databases were thoroughly searched, the reference lists of the selected articles were also reviewed from inception to June 2018 with no restrictions and filters.Results:IXT is treated when binocular vision is impaired, or the patient is symptomatic. There are different surgical and non-surgical management strategies. Non-surgical treatment of IXT includes patch therapy, prism therapy, orthoptic sessions, and overcorrecting minus lens therapy. The objective of these treatments is to reduce the symptoms and the frequency of manifest deviation by decreasing the angle of deviation or enhancing the ability to control it.Conclusions:Evidence of the efficacy of non-surgical management options for IXT is not compelling. More comprehensive randomized controlled trial studies are required to evaluate the effectiveness of these procedures and detect the most effective strategy.

Clinical Variability and Treatment Outcomes of Pediatric Esotropia at Sohag University Hospital

AbstractPurpose: To evaluate the clinical features and treatment outcomes of convergent squint (esotropia) among children. Methods: A prospective, case series, interventional study was conducted to evaluate esotropia among children presented to the strabismus outpatient clinic at Sohag University Hospital, in the period between April 1st, 2018 and December 31th, 2018; with a follow-up period of 12 months. The study was done in accordance with the Helsinki Declaration Principles, after obtaining the approval of the medical ethics committee. An informed consent was obtained from parents of children participating in this study. A standard protocol for examination was followed for all patients. Results: A total of 52 children with non-paralytic (concomitant) esotropia were included; 27 (51.9%) were males & 25 (48.1) were females. There were 23 (44.2%) patients with congenital (infantile) esotropia, 19 (36.5%) patients with accommodative esotropia, and 10 (19.2%) patients with non-accommodative esotropia. The clinical features and treatment outcomes will be discussed in details. Conclusion: Pediatric esotropia can present at birth, during the first year of life, or acquired during early childhood. Treatment should be initiated as early as possible to achieve binocularity, improve visual outcome, and prevent psychosocial effects

Neurodynamic indicators of the sensorimotor response of primary school age children with orthophoria and hetero-tropia

Objective: to analyze the neurodynamic indicators of the sensorimotor response of primary school age children with orthophoria and heterotropia. Material and methods. 51 children (102 eyes) aged 6-11 were examined. 2 groups that could be compared in terms of age and sex were formed. The first group consisted of 20 patients (40 eyes) with orthophoria associated with moderate hypertropia of Hm 3.5 (2.3; 5.3) diopters, the second group included children with concomitant convergent strabismus associated with moderate hypertropia of Hm 4.25 (2.0; 6.5) diopters - 31 patients (62 eyes). To study the properties of the nervous system (NS), the computer appliance «NS-Psychotest» (LLC «Neurosoft», Ivanovo, http://neurosoft. com/ru) was used. The neurodynamic indicators of the sensorimotor response were identified with the techniques «Simple Visual Motor Response» (SVMR), «Discrimination reaction» (DR), «Moving Object Response» (MOR), «Critical Flicker-Fusion Frequency» (CFF). Results. Concomitant strabismus in the children of the second group reliably leads to an increase in the time of SVMR, DR by 65.5 ms and 42.4 ms, respectively (p < 0.05), in comparison with the group of the children with orthophoria. The difference between the indices of DR and SVMR in the children of group 1 - 51.5 ms, of group 2 - 28.4 ms, verifies a decrease of the rate of the neurodynamic processes of the NS in the children with heretotropia. In the study with the MOR technique, the time of response in the first group was - -31 (-127; 50) ms, in the second group - 22 (-29; 94) ms (р = 0.000008), a positive value of the indicator of the response time in the children of the second group is a consequence of the prevalence of inhibition processes in the central nervous system in most the examined patients. Conclusion . The obtained results show that the presence of heterotropia in the children of the second group reliably leads to decreased mobility of nervous processes and predominance of inhibition processes in the central nervous system. The combination of the low velocity of the response and expressed inertness of nervous processes in the children of the second group are indicative of a lack of coordination of the interrelations between the centers of the visual and motor analyzers.

Clinical efficacy of the partial rectus muscle transportation procedure for paralytic strabismus.

To analyze the clinical efficacy of the partial rectus muscle transportation (PRT) procedure for paralytic strabismus due to single rectus muscle palsy. In total, 28 patients (31 eyes) who underwent the PRT procedure for paralytic strabismus due to single rectus muscle palsy were retrospectively examined. The following data were collected pre- and postoperatively: angle of deviation in the primary position, presence of diplopia in the primary position, presence of compensatory head posture, and motility of the affected eye. The follow-up period was 6mo. Based on the preoperative and intraoperative findings, different operations were performed: 2 eyes were treated with PRT, 26 eyes were treated with PRT combined with the recession of the antagonist muscle (Am) of the paralytic rectus muscle, and 3 eyes were treated with PRT along with the recession of the Am and the yoke muscle (Ym). On the first day after the operation, 24 patients were found to be orthophoric in the primary position, without diplopia or abnormal head posture. Moreover, 2 patients with monocular lateral rectus muscle palsy had mild overcorrection to 5 prism diopters (PD) and 8 PD, respectively, whereas 2 patients with binocular lateral rectus muscle palsy had mild undercorrection to 8 PD and 10 PD, respectively. During the 6-month follow-up period, the mean deviation was rectified from 96.79±41.21 PD to 0.64±2.38 PD (t=12.48, P<0.001), whereas the deviations in the 2 patients with mild overcorrection were corrected to orthotropia. The mean preoperative limitation of motility improved from -4.55±0.51 to -2.65±0.61 (t=-15.13, P<0.001) after 6mo postoperatively. PRT is an effective treatment for complete paralytic strabismus due to single rectus muscle palsy, and can achieve stable clinical efficacy.

Long-term results of augmented unilateral lateral rectus muscle recession for dissociated horizontal deviation.

We report the long-term surgical results of augmented lateral rectus muscle (LR) recession for dissociated horizontal deviation (DHD) without concomitant exotropia (XT) or esotropia (ET). This retrospective review included patients with DHD without XT or ET who underwent augmented LR recession and were followed-up for ≥12 months. Each patient’s medical records were evaluated to identify their demographics, preoperative angle of deviation, surgical procedure, success rate, and reoperation rate. A total of 11 patients with DHD were included (median patient age at surgery, 6 years; interquartile range [IQR], 5 to 10 years). Four patients (36.4%) had a history of infantile ET while three patients (27.3%) had a history of unilateral cataract surgery for congenital cataract. The median preoperative angle of DHD in the unilateral eye was 20 prism diopters (PD) (IQR, 15 to 25 PD). The median amount of LR recession was 8.0 mm (IQR, 7.5 to 8.0 mm). Three patients (27.3%) underwent simultaneous surgery for dissociated vertical deviation. At the final examination after a median follow-up period of 32 months (IQR, 24 to 58 months), 10 patients (91%) showed successful alignment. The long-term successful alignment rate after augmented LR recession for DHD was good; thus, application of this technique is appropriate in patients with DHD.

Frequency of undetected binocular vision anomalies among ophthalmology trainees

PurposeThe use of ophthalmic instruments requires increased effort on the accommodation and vergence system. This study aimed to understand the prevalence of binocular vision anomalies among ophthalmology trainees attending a surgical training program at a tertiary eye care center. MethodsThis prospective cohort study was carried out between April and November 2017 at a tertiary eye care center in South India. All the ophthalmology trainees inducted for the training programs at the institution underwent a comprehensive ophthalmic and binocular vision assessment. Subjects with previous diagnosis of binocular vision dysfunction and vision therapy were excluded. ResultsThe mean (SD) age of the subjects was 29 (3) among which 48 were females. Out of the total 75 subjects, 66 had prior surgical experience [range: 1 to 17 years]. Thirty-eight subjects were asymptomatic and 37 were symptomatic. The most common asthenopic symptom was the presence of headache. Forty-one (55%) out of the 75 had a diagnosis of a non-strabismic binocular vision dysfunction. The range of phoria at distance was orthophoria to 14 Prism Diopter (PD) exophoria (mean +/− SD: −1 +/− 3), and at near 4PD esophoria to 25PD exophoria (mean +/− SD: −4 +/− 5). Based on standard diagnostic criteria, 15 subjects (20%) had convergence insufficiency, 14 (19%) had accommodative infacility, 9 (12%) had intermittent divergent squint (IDS), while 3 subjects (4%) had convergence excess. ConclusionsThis study shows the high frequency of binocular vision dysfunctions among ophthalmology trainees joining a tertiary eye care center.

Flavonoids Sophoranone Promotes Differentiation of C2C12 and Extraocular Muscle Satellite Cells

Introduction: Paralytic strabismus involves a functional loss of extraocular muscles resulting from muscular or neuronal disorders. Currently, only a limited number of drugs are available for functional repair of extraocular muscles. Here, we investigated the effects of a novel drug, flavonoids sophoranone, on the differentiation of extraocular muscles as assessed in bothin vivo and in vitro models. Materials and Methods: The effect of flavonoids sophoranone on C2C12 cells was examinedin vitro as evaluated with use of apoptosis, reactive oxygen species (ROS), and cell viability assays. Then, both in vivo and in vitro effects of this drug were examined on the differentiation of C2C12 and satellite cells within extraocular muscles in rabbits. For these latter experiments, RT-PCR and Western blot assays were used to determine expression levels of markers for myogenic differentiation. Results: With use of flavonoids sophoranone concentrations ranging from 0 to 10 μM, no effects were observed upon cell apoptosis, ROS, and cell cycle in C2C12 cells. Based on MTT assay results, flavonoids sophoranone was shown to increase C2C12 cell proliferation. Moreover, flavonoids sophoranone promoted the differentiation of C2C12 and satellite cells within extraocular muscles in rabbits, which were verified as based on cell morphology and expression levels of mRNA and protein markers of myogenic differentiation. Finally, flavonoids sophoranone treatment also increased gene expressions of Myh3, Myog, and MCK. Conclusion: The capacity for flavonoids sophoranone to upgrade the differentiation of both C2C12 and satellite cells within extraocular muscles in rabbits at concentrations producing no adverse effects suggest that this drug may provide a safe and effective means to promote repair of damaged extraocular muscles.

Study of clinico-etiological profile of patients with paralytic and restrictive strabismus

Incomitant strabismus typically results in intractable diplopia, blepharoptosis, ocular motility disturbance, disturbance in pupil reaction and an unacceptable compensatory head or face posture. A complete clinico etiological profile is necessary for identifying the underlying risk factors and etiology pertaining to paralytic and restrictive strabismus which is imperative in prevention , early detection, managing the etiology and timely recovery in these patients.To study the clinico-etiological profile of patients with paralytic and restrictive strabismus in a tertiary eye hospital. Patients reporting to a tertiary eye hospital in north India and diagnosed with paralytic and restrictive strabismus, over a period of one year , were enrolled in the present study . Patients were subjected to detailed ocular examination and evaluated for ocular motility or related disorders. This included detailed clinical history, ophthalmic examination, orthoptic workup , sensory evaluation, diplopia charting, Hess charting, slit lamp examination and fundus examination . In patients of suspected restricted strabismus, forced duction test was performed. Relevant systemic investigations including blood pressure , blood sugar and lipid profile were carried out . M.R.I orbit was done in every patient. Neuroimaging was advised in those patients where indicated. 48 patients were diagnosed with incomitant strabismus and enrolled in the study. 81.3%were of paralytic strabismus while 18.8 % were of restrictive strabismus. In the group of paralytic strabismus, 43.8 % patients had sixth nerve palsy , 27.1% patients had third nerve palsy , 6.3% patients had fourth nerve palsy and combined nerve palsy patients were 4.2%. Analysing the etiology, out of total patients of paralytic strabismus, 48.7% of cases were idiopathic, 25.6% were post traumatic, 15.4% were due to microvascular causes , 5.1% of cases were due to intracranial anomalies and rest 5.1% were due to inflammatory causes. In restrictive strabismus group, 66.7% were congenital and rest 33.3% were acquired. Our study has reflected the prevalence, distribution , etiological and clinical profile of patients presenting with incomitant strabismus . It is helpful for ophthalmologists and other physicians in guiding diagnosis and evaluation and is useful for proper and timely intervention and timely recovery in these patients.

Результаты исследования корреспонденции сетчаток у пациентов с содружественным косоглазием при разных способах разделения полей зрения

Purpose. A comparative analysis of results in the study for a correspondence of retinas obtained using mechanical, anaglyph and raster conditions of separation of visual fields, taking into account the objective and subjective angles of strabismus. Material and methods. There were in the study follow-up 240 patients with concomitant strabismus aged 6 to 17 (mean 10.8±0.24) years: with convergent strabismus – 190 patients, with divergent strabismus – 50 patients. All patients underwent a standard ophthalmological examination. In the complex of additional orthoptic examination we applied: determination of deviation value and study of retinal correspondence using the synoptophore by two methods: measurement of deviation value by means of prisms, study of retinal correspondence by means of classical (with raster separation of visual fields) Bagolini test and modified (with anaglyph separation of visual fields) Bagolini test. The deviation value using the synoptophore was determined in two ways: 1) using binocular conditions (both test objects are initially highlighted); 2) using monocular alternation. To determine the value of deviation in conditions as close as possible to the natural cover-uncover test and alternating cover-test with prisms was used. Results. It was found that the value of deviation measured on the synoptophore by the first method was comparable to the value of deviation determined using a cover-uncover test (t=1.74; p=0.083). The deviation measured on the synoptophore by the second method was comparable to the deviation measured using the alternating cover test (t=0.89; p=0.37), exceeding the deviation value on the synoptophore by the first method and with the cover-uncover test by an average of 4.2±0.03°. In a comparative analysis of the results of the retinal correspondence study using different methods separately under the objective and subjective angle of strabismus, it was detected that the results of the study are comparable in most patients, and the difference observed in other cases reflects the influence of mechanical, anaglyphic or raster conditions for separating the visual fields. Conclusions. The results in the measurement of the strabismus angle obtained in the study using the synoptophore with binocular observation conditions (both test objects are initially highlighted) and using a coveruncover test with prisms can be comparable and characterize the value of only tropia without phoria. The results in the measurement of the strabismus angle obtained in the study on synoptophore using the monocular alternation and using alternating cover-test with prisms, can also be comparable and characterize in both cases the total value of the deviation of the eye, including both tropia and phoria. The results of the study of retinal correspondence using mechanical, anaglyph or raster conditions for a separation of visual fields in most patients are comparable, but if it is a subject to the same principles of projecting images to the central and peripheral areas of the retina.

Prevalence of Strabismus and Its Impact on Vision-Related Quality of Life: Results from the German Population-Based Gutenberg Health Study

This study investigates the prevalence of manifest strabismus and its subtypes in adulthood and analyzes the risk factors and its impact on vision-related quality of life (VRQoL). The Gutenberg Health Study (GHS) is a population-based, observational cohort study. A cross-sectional analysis of the baseline examination was conducted. Participants aged 35 to 74 years were included (n= 15 010). All participants were examined with a comprehensive ophthalmologic and general examination including the Hirschberg corneal reflex test to detect manifest strabismus. The following risk factors were analyzed: age, sex, socioeconomic status, birth weight, maternal age at birth, anisometropia, astigmatism, spherical equivalent, low visual acuity in the worse seeing eye (≥1.3 logMAR), and cardiovascular factors, and included in multivariable logistic regression analysis. Lifetime period prevalence and point prevalence of manifest strabismus were computed, and VRQoL was compared between participants with and without strabismus. Strabismus prevalence. A total of 14 700 participants (age, 55.0±11.1 years; 49.5% were female) were included in this analysis. The weighted prevalence of ever having strabismus was 2.9% (2.6%-3.2%), and the point prevalence for concomitant strabismus was 2.5% (2.3%-2.8%). Esotropia was twice as frequent as exotropia, and 2 participants had paralytic strabismus. Concomitant strabismus was associated with age 65 to 69 years (odds ratio [OR], 0.13 [0.05-0.39], P < 0.001); age 70 to 74 years (OR, 0.14 [0.05-0.4], P < 0.001); anisometropia (>1.0 diopters [D]: OR, 3.61 [2.32-5.62], P < 0.001; >2.0 D: OR, 6.93 [4.23-11.35], P < 0.001); astigmatism (≥1.0 D: OR, 2.09 [1.42-3.08], P < 0.001; ≥2.0 D: OR, 3.74 [2.35-5.97], P < 0.001); spherical equivalent (per diopter: OR, 1.43 [1.33-1.53], P < 0.001); and low visual acuity in the worse seeing eye (≥1.3 logMAR: OR, 21.7 [11.2-42.0], P< 0.001). VRQoL was lower in participants with strabismus compared with participants without strabismus in adjusted analysis (B=-5.96, P < 0.001). Strabismus is a frequent chronic eye condition that is associated with a lower VRQoL. Individuals with anisometropia, astigmatism, and hyperopia are more likely to have strabismus. In addition, low visual acuity in the worse eye was linked to strabismus prevalence.

Cornelia De Lange Syndrome in Iraq

Background: Cornelia de Lange syndrome is a rare syndrome of highly variable phenotype making a spectrum ranging from classic syndrome with many cardinal features to mild condition few cardinal features. Typically patients with classic syndrome had growth and mental retardation and distinctive facial dysmorphism including thick (bushy) and / or long eyebrows commonly with synophrys, short nose with depressed or concave nasal bridge and/or upturned nasal tip , long or smooth or indistinct philtrum, thin upper lip vermilion and/or downturned corners of mouth, and low set ears. The diagnosis of the syndrome is clinical. Ocular abnormalities that can be associated with Cornelia de Lang syndrome squint, nystagmus, refractive errors, and ptosis. Materials and methods: The occurrence of Cornelia de Lange syndrome has not been reported or well-documented. The first four Iraqi patients (Three boys and one girl) with Cornelia de Lange syndrome are described. The relevant literatures were reviewed with aim of determining the early documentation of the syndrome in the medical literatures. Results: All the patients were sporadic cases and had growth retardation, severe mental retardation with significant developmental delay, thick eye brows with some degree of synophrys, short nose with depressed or concave nasal bridge, and low set ears. All the patients had normal karyotype. One male patient had all of the classical features including long smooth and indistinct philtrum, thin upper lip vermilion, and downturned corners of mouth. The second male patient had a concave nasal bridge that becomes more obvious during crying, nystagmus and bilateral convergent squint. The third boy had milder dysmorphic features. The fourth patient was a girl who was the second of a twin. She had severe growth retardation and was hypotonic with poor head control. She also had bilateral convergent squint, refractive error, and reduction in visual acuity. Conclusion: The first four Iraqi patients with Cornelia de Lang syndrome are reported.

Phenotypic Convergence Is Not Mirrored at the Protein Level in a Lizard Adaptive Radiation.

There are many compelling examples of molecular convergence at individual genes. However, the prevalence and the relative importance of adaptive genome-wide convergence remain largely unknown. Many recent works have reported striking examples of excess genome-wide convergence, but some of these studies have been called into question because of the use of inappropriate null models. Here, we sequenced and compared the genomes of 12 species of anole lizards that have independently converged on suites of adaptive behavioral and morphological traits. Despite extensive searches for a genome-wide signature of molecular convergence, we found no evidence supporting molecular convergence at specific amino acids either at individual genes or at genome-wide comparisons; we also uncovered no evidence supporting an excess of adaptive convergence in the rates of amino acid substitutions within genes. Our findings indicate that comprehensive phenotypic convergence is not mirrored at genome-wide protein-coding levels in anoles, and therefore, that adaptive phenotypic convergence is likely not constrained by the evolution of many specific protein sequences or structures.

Case 278.

HistoryA 13-year-old girl was born to consanguineous parents. She presented with mild intellectual impairment, convergent strabismus, horizontal gaze palsy, and bilateral abducens palsy. Vertical gaze was preserved, and no abnormalities suggesting facial paralysis were noted. In addition, she reported progressive back pain since she was 5 years old. Other symptoms were denied. No medications or related drugs had been administered thus far.

Ophthalmic Pathology in the Offspring of Pregnant Women with Gestational Diabetes Mellitus.

Gestational diabetes (GD) occurs in 5.8% to 25.1% of pregnant women. This disorder has been linked with intrauterine growth delays, congenital anomalies, and neurobehavioral disorders following birth. As to ophthalmological effects, changes in macular thickness and hypoplasia of the upper quadrant of the papilla have been described. To investigate whether GD has an effect on ophthalmological development in the children born of mothers with this condition. Observational study carried out in children seen in the ophthalmological outpatient clinic of a pediatric hospital in Barcelona (Spain) between January 2011 and December 2015. Participants were ultimately divided into two groups, a study group whose mothers had GD managed either by insulin or diet (GD group) and a control group of children with non-diabetic mothers. Pregestational diabetes cases, were excluded. Complete information was collected on the children's refraction status, ophthalmological disease, and congenital malformations. Data were compiled on 350 children (229 children born of mothers with GD-186 managed with diet vs 43, with insulin- and 121 controls). The prevalence of amblyopia and strabismus was similar between the groups, but children of mothers with GD had a three-fold greater probability of having refractive errors than children born to mothers without GD. Hyperopia (14.8% vs. 7.4%) and myopia (3.5% vs 0%) were found to be significantly more prevalent in children born of mothers with GD than in the controls (p = 0.027 in both groups).The prevalence of astigmatism was similar in both groups (1.7% vs 0.8%). Refractive errors are more common in children born of mothers with GD. These conditions are easily managed, but if they are not detected, they can lead to amblyopia or accommodative strabismus, interfere with acquisition of fine motor skills, and lead to learning problems. Regular ocular examinations would be recommended in these patients.

Efficacy of vision therapy in impaired stereoscopic depth with intermittent exotropia (true divergence excess) with unilateral amblyopia: a case report

Divergence excess (DE) can be described clinically as exotropia at far greater than the near deviation by at least 10 prism dioptres (PD). We are reporting a rare case of 25-year-old female visited in the eye department for a routine eye check-up with a history of decreased vision in one eye. On examination, it was detected as a case of unilateral amblyopia with intermittent exotropia of true divergence excess with high accommodative-convergence over accommodation (AC/A) ratio. The patient was asymptomatic from exo-deviation due to the presence of binocular vision and good fusional reserve. The patient was started on active conventional vision therapy along with occlusion therapy. Post 16 weeks of constant therapy, a vision assessment with complete squint assessment along with binocular vision tests were performed. The result interprets to support the use of active conventional vision therapy as an integral part of the clinical treatment of amblyopia and intermittent exotropia. The rate of recovery of several monocular functions monitored during the vision therapy period provides the evidence of neural plasticity at multiple sites in the visual pathway in this adult amblyope. Therefore, if an ordered plan is being followed for the management of the patient of unilateral amblyopia and divergence excess, it can yield long-lasting improvement in visual acuity and binocular functions of any age.

NGF and CNTF expression and regulation mechanism by miRNA in acute paralytic strabismus.

Nerve growth factor (NGF) and ciliary neurotrophic factor (CNTF) are well-known neurotrophic factors and widely used in the clinical treatment for its promotion effect on peripheral nerve regeneration. And they were also recommended for the acute paralytic strabismus treatment. However, whether the NGF and CNTF have protective effect for the extraocular muscles of acute paralytic strabismus patients is still poorly understood. In this study, we want to evaluate the biological function of NGF and CNTF on the extraocular muscle cells and reveale the regulation mechanism behind it. Firstly, the relative expression of ngf and cntf was assessed by quantitative real-time RT-PCR. Then, the influence of NGF and CNTF on the extraocular muscle cell proliferation was determined by CCK-8. The inflammatory response in muscle cells after NGF and CNTF treatment was evaluated by ELISA and ROS detection. In addition to this, the up-stream regulation of the ngf and cntf expression was also studied. The TargetScan was used for the predication of potential miRNAs targeting with ngf and cntf 30-UTR, which is soon confirmed by luciferase activity assay. all the results in this research indicated that NGF and CNTF could promote the muscle cell proliferation and inhibit the inflammatory levels, then exert protective effect on the muscle cell function. All the results in this research indicated that NGF and CNTF could promote the muscle cell proliferation and inhibit the inflammatory levels, then exert protective effect on the muscle cell function. It was conceivable that let 7-5p was the up-stream regulator of ngf and cntf, and let 7-5p might serve as a potential molecular target for acute paralytic strabismus treatment.

A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem

We report the case of a Caucasian Spanish boy, who showed profound neonatal hypotonia, feeding difficulties, apnea, severe developmental delay, epilepsy, bilateral convergent strabismus, poor verbal language development and a large brainstem. Whole-exome sequence uncovered a novel de novo mutation in the purine-rich element binding protein A gene (PURA; NM_005859.4:c.72del:p.(-Gly25AlafsTer53)) that encodes the transcriptional activator protein Pur-alpha (PURA). Mutations in this gene have been identified in patients with PURA syndrome, a rare disorder characterized by an early hypotonia, developmental delay, severe intellectual disability with or without epilepsy, and disability in expressive language development. Although, up to 75 cases have been identified worldwide, to the best of our knowledge, this is the first patient described with a brainstem larger than normal. In conclusion, our data expand both geneticand phenotypic spectrum associated with PURA gene mutations.

Phoria Adaptation: The Ghost in the Machine

ABSTRACT Importance Phoria adaptation is a central tonus mechanism that provides plasticity to binocular alignment. However, its slow dissipation inevitably adulterates our clinical strabismus measurements. Purpose To examine the role of phoria adaptation in normal binocular control, understand its neural substrate, and explore how it can alter our clinical measurements in common forms of strabismus. Methods Investigation into the role of phoria adaptation in maintaining binocular alignment and its role in altering clinical strabismus measurement. Results Phoria adaptation permeates all aspects of binocular alignment. It accounts for the stability of orthophoria, “latent” phorias, tenacious proximal fusion in intermittent exotropia, large fusional vertical amplitudes in congenital superior oblique muscle palsy, the “eating up” of prisms in accommodative esotropia, the smaller measured distance deviation in patients with high AC/A ratio or convergence excess, absence of physiologic skew deviation during head tilt, fusional divergence amplitudes, and spread of comitance. This binocular control system probably arises from a cerebellar learning mechanism that involves input via climbing fibers to the inferior olive, which provide a powerful timing and error signal to the cerebellar Purkinje cells to produce activity-dependent modification analogous to long-term potentiation. Conclusions Phoria adaptation is generated by a central neural integrator that provides inertia, plasticity, and positional stability to human binocular vision.

Clinical Manifestations of Delayed-onset Consecutive Esotropia after Surgical Correction of Intermittent Exotropia.

PurposeTo evaluate the clinical features and prognosis of a delayed-onset consecutive esotropia (ET) after surgical correction of intermittent exotropia.MethodsThirty-four patients who developed consecutive ET after primary bilateral lateral rectus recession for the surgical correction of intermittent exotropia were evaluated retrospectively and were divided into two groups: delayed-onset consecutive ET group and the continuous consecutive ET group. Patients who developed esodeviation after once recovering to orthotropia within 1 month after the operation were included in the delayed-onset consecutive ET group, and patients with continuous esodeviation after the operation were included in the continuous consecutive ET group. We evaluated preoperative and postoperative angle of deviation, suppression, stereopsis, and follow up periods between the two groups and compared re-operation and success following non-surgical treatment between the continuous consecutive ET group and the delayed-onset consecutive ET group.ResultsAmong 34 patients with consecutive ET, 27 patients (79.4%) were included in the delayed-onset consecutive ET group, and seven patients (23.3%) were included in the continuous group. Success rate of non-surgical treatment was not statistically significant between two groups (p = 0.55), but it was higher in the delayed-onset group with 37.5%, and 25% of patients in continuous group were successfully recovered to straight alignment. Duration of orthotropia in delayed-onset group was 7.4 ± 6.0 months (range, 2–29 months). Age, sex, preoperative refractive error, preoperative exodeviation, suppression, and near steroacuity were not statistically significant between two groups (p > 0.05, all). In the delayed-onset group, three patients (11.1%) underwent re-operation, while three patients (42.9%) in continuous consecutive ET group underwent re-operation (p = 0.048).ConclusionsRe-operation rate of delayed-onset consecutive ET after surgical correction of intermittent exotropia was lower than that of continuous consecutive ET.

Ocular characteristics of patients with cerebral palsy

Aim: The purpose of this study is to report the ophthalmic characteristics and treatment results of our cerebral palsy (CP) patients. Materials and Methods: We explored the charts of 62 CP patients who were followed by our tertiary referral pediatric ophthalmology and strabismus department between 1998-2018 retrospectively. Patient demographics, strabismus type, preoperative deviation, type of surgery, visual acuities (VA), fundus findings, first surgery time, additional surgeries and anomalies and follow-up time were recorded. Results: Mean age and follow-up time were 34.1 and 42.6 months respectively. Most of the subjects (80.6%) had bilateral VA less than 20/200. The ratio of patients without fixation and follow was 11.2% in right eye and 14.5% in left eye. Fifty eight percent of patients had normal fundus findings. The most leading finding was bilateral optic disc pallor in abnormal fundus patients (33.8%). Fifty-six (90.1%) patients had strabismus (esotropia (ET) (50%), exotropia (XT) (35.5%), vertical deviation (4.8%). Mean horizontal deviation was 25.64±8.41 (8-40) prism diopter (PD) in ET and 25.4±9.39 (12-40) PD in XT. We performed strabismus surgery to 20.9% of patients. The most frequent surgery type was bilateral medial rectus recessions. Mean first surgery time was 35.6 months. Four (30.7%) patients who had previous strabismus surgery needed additional surgery. The most frequent additional surgery types were medial rectus advancement (50%) and inferior oblique myectomy (50%). Prematurity (19.3%), epilepsy (12.9%) and corpus callosum dysplasia and periventricular leukomalacia (12.9%) were the leading encountered additional anomalies. Conclusions: CP patients are mostly accompanied with esotropia. The management of CP patients may be challenging due to need of additional surgeries.