Infantile Esotropia Research Articles

Biallelic pathogenic variants in the LSS gene cause congenital alopecia-cataract syndrome.

Biallelic variants in the LSS gene have been reported in individuals affected by alopecia-intellectual disability syndrome 4, cataract 44, hypotrichosis 14, and palmoplantar keratoderma-congenital alopecia syndrome type 2. The present report described a Chinese girl with congenital alopecia universalis, cataract, esotropia, and nystagmus caused by compound heterozygous variants of c.1025T>G (p.Ile342Ser) and previously unreported c.1011G>A (p.Pro337=) in the LSS gene. Minigene assay confirmed the synonymous variant Pro337= at the edge of exon 9 could produce a novel splice site, leading to a 46-bp insertion of the 5' sequence of the intron 9, likely resulting in a frameshift effect. We consider that the clinical manifestations of this case represent a new type of LSS-related disease, namely congenital alopecia-cataract syndrome (CACS). Our data expand the phenotypic and genetic spectrum of LSS-related diseases.

The Use of Botulinum Toxin to Treat Infantile Esotropia

Injection of botulinum toxin type A into both rectus muscles is an alternative to surgery and has given good results in children with infantile esotropia. Reducing the angle of deviation can help restore binocular vision, which in turn will promote motor fusion and allow better control of the strabismus and may even lead to eventual healing. We report the result after 6 months of injection of botulinum toxin in the medial rectus in 6 children with infantile esotropia.

Bilateral medial rectus recession with or without posterior fixation in large-angle infantile esotropia: a randomized controlled trial.

To compare the results of bilateral medial rectus recession (BMRc) versus bilateral medial rectus recession with Faden operation (BMRF) in the treatment of large-angle infantile esotropia. A double blinded, parallel, randomized controlled trial. Patients with large-angle infantile esotropia (≥ 60 prism diopters, [PD]) aged between 3 and 15 years old were included and assigned to either the BMRc or BMRF group. Mean difference and mean reduction of angle deviation between the two groups were compared at 1 week, 1, 3, and 6 months by using generalized estimating equations analysis. Surgical success rates, defined as an esodeviation ≤ 10 PD at near fixation, were evaluated at 6 months postoperatively. Complications from the surgical procedures were observed. Of 40 enrolled patients, the mean (SD) age of the patients in the BMRc group was 3.4 (1.9), and in the BMRF group, 5.2 (3.8) years old. The overall mean differences of angle reduction between both groups were not significant (-6 PD, 95%CI -14 to 2, P = .12). The surgical success rate at 6 months in the BMRF group (72%) was not different compared to BMRc group (84%, P = .45). Overall consecutive exotropia was 5%, not different between groups (P > .99). There was no difference of complications between the two groups (P = .51). BMRF and BMRc approaches show no difference in treatment of large-angle infantile esotropia. Nevertheless, a long-term assessment for consecutive exotropia should be considered for both surgical procedures.

Congenital ocular and its adnexal anomalies among Indian pediatric age

An analysis of the congenital etiologies of ocular morbidity in children of age 0-12 years is of interest. Hence, this study was conducted over a period of 2 years from Jan 2021- Dec 2023 at RL Jalappa Hospital and Research center that is attached to Sri Devaraj Urs Medical College, Tamaka, Kolar, Karnataka, India. Out of 56 patients, 57% were male and 43% were female children. 31 (55%) of mothers belonged to age group between 20-30 years and 24 (43%) between 31-40 years and 1(2%) between 41-50 years. Out of 56 patients, 14 (25%) of them had positive family history. 34 (61%) of them had consanguious marriage. 14 parents (41%) out of 34 are married to second degree consanguinity (brother/sister/grandparent/grandchild) and 20 (59%) belonged to third degree consanguinity (aunt/uncle/niece/nephew/great-grandparent/great-grandchild). Bilateral involvement was seen in 31 (55%). Nasolacrimal duct anomalies were found to be the most common (32%) followed by congenital esotropia (14%). Education, awareness, counseling about risks of consanguinity and other risk factors such as maternal age, infections, medications during pregnancy, vaccination must be a routine practice in healthcare set up. This can significantly reduce morbidity and prevent blindness.

The timing and challenges of early intervention for infantile esotropia

Infantile esotropia is a common ophthalmic disease in children. A lot of clinical and basic research evidence suggests that early surgery enhances sensory and ocular motor development. However, the proper timing of surgery has been debated for decades. In addition, there is more likely instability of deviation in the preoperative evaluation of infants, and even if the patient achieved alignment after surgery, the defects in binocular vision may accompany for a lifetime. This article analyzes the difficulties and key points of early intervention for infantile esotropia, aiming to provide scientific ideas for the early treatment of children with infantile esotropia in China.

SURGICAL MANAGEMENT IN ESOTROPIA AT CIPTO MANGUNKUSUMO HOSPITAL: A 4-YEAR OBSERVATION ON CHARACTERISTIC AND RESULT

Introduction: Esotropia, although have low prevalence in Indonesia, give significant impacts on its sufferer, and due to the wide range of types creates numerous options for surgery without much consensus. Success rates of the surgery also varied depends on many factors. This study aims to evaluate clinical characteristics, success rate in esotropia surgery, and factors that may influence the outcome. Methods: A retrospective descriptive study based on secondary data from medical records of child and adult esotropia patients who underwent surgery from January 2018 to December 2021. Result: Of 68 patients included in the study, 60.2% were adults. More than half of patients have an onset before 7 years of age, though amblyopia only affects 29.4% of patients. Squinted-eye was the chief complaint in most patients (76.5%). One-third of patients had basic type esotropia and 59.7% had large preoperative deviation. Unilateral procedure was done in 50% of patients. The surgery success rate reached 65% with good stability on 8 months of follow-up. Better results were seen in congenital and basic type esotropia than in other types. Although none of the believed influenced factors affecting outcome were significant statistically, duration <5 years and preoperative deviation <50 PD had a higher success rate of 75% and 84.6%. Conclusion: Esotropia surgery in Cipto Mangunkusumo hospital were performed majorly in adults with large pre-operative deviations, mostly by unilateral procedure of recession and resection. The surgeries yield good results and stability, with shorter duration and smaller preoperative deviation giving higher success rates.

Clinical profile of esotropia patients in a tertiary care center with application of the CEMAS classification

Abstract Aims: This studyaims to study the clinical profile of patients with esotropia (ET) in a tertiary care centre. Materials and Methods: A cross-sectional observational study was carried out on 94 patients with ET seen in the ophthalmology outpatient department of a tertiary care center from December 2018 to June 2020. Results: A female preponderance was noted with male:female ratio of 0.8:1. Although 79 patients (84.04%) had noticed the onset of ET in the first decade of life, only 50 (53.19%) of the patients presented to the ophthalmologist in the first decade of life. Family history of ET was present in only 7.44% of patients. Amblyopia was present in 31 (32.97%) patients. The most common refractive error seen was hypermetropia followed by hypermetropic astigmatism. Based on the Classification for Eye Movement Abnormalities and Strabismus (CEMAS), there were 36 (40.42%) patients with refractive accommodative ET, 15 (15.95%) of infantile ET, 13 (13.82%) patients had ET due to visual/neurological disease, 16 (15.95%) patients had cranial neuropathy and there was one child with neuromuscular cause – Duane’s retraction syndrome (Type 1). Conclusion: Most of the patients in the study sought consultation for the management of ET late in life though it was noticed in early childhood. Majority of the patients had refractive accommodative ET. These can be managed appropriately if diagnosed early. A significant number of patients had amblyopia as sequelae of untreated ET. Early diagnosis and appropriate management at the right time are very important in patients with ET to prevent the development of amblyopia and maintain binocularity.

Clinical study of esodeviations in children

Esotropia or convergent strabismus is a common type of squint in children. The esodeviation, the refractive error and the amblyopia should be examined and treated early to achieve good cosmetic correction and to improve Visual acuity.A meticulous history of 25 children up to age of 12 years who presented with esodeviations was taken including the age of onset, duration and previous treatment. They were examined for amount and type of deviation by cover test, hirschberg corneal reflex test, Prism bar cover test and evaluated for refractive error under full cycloplegic correction, for Binocular Single Vision, diplopia, suppression and amblyopia by Worth four-dot test and RAF ruler. Ocular movements and fundus findings were recorded.11 male and 14 female children with esodeviations with age of presentation varying from 9 months to 12 years were evaluated for type of esotropia. In our study the most common type seen in 12 cases (48%) is refractive accommodative esotropia with high hypermetropia. Non-refractive accommodative esotropia greater for near with high AC/A ratio in 5 patients (20%), Partially accommodative (mixed) esotropia in 2 cases, acquired non-accommodative esotropia seen in 2 patients. 1 case each is seen in Infantile esotropia, in Sensory esotropia, in child with Duane’s retraction syndrome (DRS) and in child having cerebral visual impairment (CVI).Our study aimed to diagnose and manage the various types of esodeviations at an early age so as to maintain binocular alignment and a good Visual acuity to avoid progression to amblyopia.

Alteration of Neurotrophic Factors and Innervation in Extraocular Muscles of Individuals With Concomitant Esotropia.

To determine whether neurotrophic factors and innervation in extraocular muscles (EOMs) were altered in different types of concomitant esotropia, and to explore the possible association between neurotrophic factors and innervation of EOMs in humans. Patients with concomitant esotropia who required strabismus surgery were recruited from January to December 2022. Lateral rectus EOMs were obtained from patients, and controls were obtained from deceased organ donors. Immunofluorescence (IF) was performed to detect innervation of EOMs (neurofilament and synaptophysin), and immunohistochemistry (IHC) was used to detect the neurotrophic factors insulin-like growth factor-1 (IGF-1), brain-derived neurotrophic factor (BDNF), glial cell-derived neurotrophic factor (GDNF), and neurotrophin-3 (NT-3). The positive IHC results were further verified using western blotting (WB). One-way ANOVA followed by a Dunnett's multiple comparison post hoc test was used for continuous variables and the χ2 test for categorical variables. Spearman correlation analysis was used for the correlation analysis. We collected lateral rectus EOM samples from acute and chronic types of concomitant esotropia and controls. Consistent with IHC, WB showed that IGF-1 was significantly increased in patients with acute acquired comitant esotropia or essential infantile esotropia compared with controls. In IF, synaptophysins were significantly increased only in acute acquired comitant esotropia compared with controls. Furthermore, Spearman correlation analysis showed that the correlation between IGF-1 and synaptophysin was borderline (P = 0.057) for patients with acute acquired comitant esotropia. Our study highlights the role of IGF-1 and altered innervation of EOMs in acute acquired comitant esotropia, suggesting that an effect of increased IGF-1 on nerve innervation may temporarily cause a compensatory increase in the strength of lateral rectus muscles.

A Comparative Analysis of Surgical Outcomes for Infantile Esotropia With and Without Prior Botulinum Toxin A Injection.

To compare the surgical outcomes in patients who had a failed botulinum toxin A injection before surgery versus those who had surgery as primary treatment (primary surgery) for infantile esotropia. The files of patients who had strabismus surgery in the Strabismus Unit of Beyoglu Eye Training and Research Hospital between January 2012 and March 2022 were reviewed. This study included 104 eyes of 52 patients with infantile esotropia. The angle of deviation before and 1, 3, and 6 months after botulinum toxin A injection or surgery, complications, pattern deviations, family history, abnormal head position, history of prematurity, intensive care unit admission, and consanguineous marriage were noted. A successful outcome was defined as ocular alignment of 10 prism diopters (PD) or less. The study population consisted of 52 patients: 27 (52%) boys and 25 (48%) girls. In the botulinum toxin A group (n = 26), the mean age at admission was 14.0 ± 6.8 months, whereas the mean preoperative near and far angle of deviation were 41.92 ± 12.2 and 41.3 ± 13.0 PD, respectively. The mean age at the time of surgery was 40.6 ± 18.1 months. In the primary surgery group (n = 26), the mean age at admission was 34.0 ± 15.9 months. The mean preoperative near and far angle of deviation were 37.3 ± 8.0 and 35.3 ± 10.5 PD, respectively. The mean age at the time of surgery was 48.1 ± 18.5 months. The success rates 6 months after treatment in the botulinum toxin A group and the primary surgery group were 76.9% and 88.5% in near (P > .05) and 80.8% and 88.5% in far (P > .05), respectively. Three patients had transient ptosis and one had consecutive exotropia after botulinum toxin A injection. In infantile esotropia treatment, strabismus surgery after failed botulinum toxin A injection compared to primary surgery has statistically comparable surgical success rates. [J Pediatr Ophthalmol Strabismus. 2024;61(4):245-251.].

Effect of refractive errors on the results of botulinum neurotoxin administration in patients with infantile esotropia.

To investigate the effect of refractive errors on the results of patients followed up with infantile esotropia (IE) and treated with botulinum neurotoxin (BNT) injection. The files of patients with IE who presented to the ophthalmology pediatric ophthalmology unit and underwent BNT injection into both medial rectus muscles between 2019 and 2021 were reviewed retrospectively. Sixty eyes of 30 patients were included in the study. Patients with additional systemic or ocular diseases and those with a history of ocular surgery were excluded. Distance and near deviations were measured (with the prism cover test or Krimsky method) before and at the first, third, and sixth months after BNT injection. In Group 1 (n = 20) with a spherical equivalent of + 2.0 diopters (D) or less, the mean near and distance deviation value was both 36.8 ± 12.7 prism diopter (PD) before injection. In Group 2 (n = 10) with a spherical equivalent of above + 2.0 D, the near deviation was measured as 35.0 ± 7.1 PD and distance deviation as 31.8 ± 7.9. At six months after BNT injection, the near and distance deviation values were 20.6 ± 12.3 and 20.6 ± 11.6 PD, respectively in Group 1 and 10.1 ± 10.3 and 8.8 ± 10.8 PD, respectively in Group 2. The change in deviation did not statistically significantly differ between the groups (p > 0.05), but the distance and near deviation values were lower in Group 2 at sixth months after BNT injection. BNT injection is a preferred method in IE. Higher hypermetropic values seem to increase the success of BNT injection.

Prosthetic Contact Lens Combined with Strabismus Surgery : Confronting Psychosocial Prejudice in Anomalous and Misaligned Eyes

Introduction : Patients with defects in the cornea such as abnormal size, opacities as well as misalignment of the eyes may feel inferior about their physical appearance. Such patients will benefit from prosthetic contact lenses (CL) and strabismus surgery to restore anatomical appearance. The majority of patients also seek strabismus surgery for both cosmetic and psychosocial reasons along with decreased levels of anxiety and depression. Our goal not merely cosmetic, but also improving psychosocial health and quality of life.
 Case Illustration : We reported a 14-year-old male with complaints of white spot on his left eye and squint since birth. On ophthalmology examination, we found 45 degree esotropia with BCVA 6/6 in the right eye and 1/300 in the left eye. Corneal diameter was 10 mm and 9 mm on the right and left eye, respectively. He was diagnosed with right eye posterior embryotoxon, left eye corneal dystrophy, microcornea on both eye, congenital esotropia and deprivative amblyopia. He had developed low self-esteem due to his eyes. To enhance his appearance, left eye lateral rectus resection and medial rectus recession with adjustable suture was done to align the eye. Afterwards, brown-tinted soft contact lens with power -0.50 D, diameter 14,2 mm, and base curve 8,5 mm was given to disguise the corneal opacities and microcornea. Patient felt very satisfied with the result.
 Discussion : 
 Conclusion : Prosthetic contact lens combined with strabismus surgery provides satisfactory cosmetic and psychosocial benefit with minimal complications. As clinicians, functional, cosmetic and psychosocial indications must be considered for a comprehensive management.

Treatment of Infantile Esotropia - Comparison Between Botulinum Toxin A and Bilateral Medial Rectus Recession.

The objective of the study is to evaluate the examination findings, treatment methods, and follow-up results of children diagnosed with infantile esotropia (IE) and to compare botulinum toxin A (BTA) and bilateral medial rectus (MR) recession surgery. We retrospectively reviewed the medical records of patients who were diagnosed with IE. The age of the patient and the angle of deviation were taken into account to determine the treatment. Patients who underwent bilateral MR recession surgery and BTA injection were analyzed and the BTA and surgical groups were compared. Successful correction was defined as orthotropia and a deviation of up to 10 prism diopters (PD) after one surgical procedure or 1-3 botulinum injections. Two hundred and forty-six patients with esotropia were included in the study. Twelve were followed up with refractive correction only. BTA injection was administered to 110 patients, while 124 patients underwent bilateral MR recession. The age of the patients ranged from three to 39 months. Patients were followed for at least 6 months, with a mean follow-up of 24.3 months in the BTA group and 21.7 months in the surgical group (p=0.23). The mean pre-treatment angle deviation was 38.9 PD in the BTA group and 40.1 PD in the surgical group (p=0.62). The success rate for patients with more than 30 PD of deviation was 72% in the surgical group compared to 36% in the BTA group (p<0.001). No statistically significant difference in success rate was observed in patients with deviations <30 PD (surgery 62%, BTA 55%, p=0.26). Surgical treatment of IE was more successful than BTA injection in patients with large angle deviations (>30 PD). BTA injection can be considered as an alternative to surgery in cases of small to moderate angle deviations (<30 PD).

Surgical Outcomes and Factors Related to Their Success of Infantile Esotropia in a Tertiary Hospital: A Retrospective Study.

This study aims to evaluate the outcomes of surgical intervention for infantile esotropia at a tertiary care hospital. Medical records of patients with esotropia who underwent surgical correction at our tertiary hospital between January 2013 and June 2023 were retrospectively analyzed. Patient demographics, preoperative and postoperative ocular alignment, surgical techniques employed, complications or reoperations, and factors related to successful surgery were analyzed. The study included 77 participants with an average age of 9.54 ± 10.87 years at the time of surgery. Postoperatively, 71.4% (55/77) patients achieved successful alignment, which was defined as an ocular deviation of ≤10 prism diopters (PD), at the final follow-up. The average follow-up period was 12 months, during which no complications were noted. Reoperation was required in 15.6% (12/77) patients. Multivariate logistic regression revealed that having a smaller preoperative deviation of <50 PD positively influenced the success of strabismus surgery (adjusted odds ratio, 7.13; 95% CI, 2.04-24.86). The surgical correction of infantile esotropia in a tertiary care setting yielded favorable alignment outcomes in most cases, with no complications and a low reoperation rate. A preoperative angle of <50 PD emerged as a prognostic factor for successful surgical outcomes in this population. Further studies with longer follow-up periods are recommended to evaluate the long-term stability of these outcomes and identify additional influencing factors.

Эссенциальная младенческая эзотропия

Relevance. Essential infantile esotropia (EIE) is the most common type of childhood strabismus. The incidence of EIE varies on average from 0.1 to 1.0% in the general population of children, which is significant for timely diagnosis and provision of appropriate assistance to this category of patients. The exact etiology of infantile essential esotropia remains unknown, but historically a number of conflicting theories have been proposed. Purpose. To summarize the accumulated experience in the field of studying EIE to determine the optimal path to achieving the main goal of treatment – achieving orthoposition with the subsequent formation of binocular vision in this category of patients. Material and methods. To complete the review, a search of literature sources was carried out in the PubMed and Scopus abstract databases for the period up to 2022 inclusive. A total of 32 articles relevant to the review topic were selected and analyzed. Results. Having analyzed the literature data, we can conclude that today there is no unified classification of infant essential esotropia, but a certain symptom complex of clinical manifestations has been identified that are pathognomonic for this type of strabismus. Usually, EIE manifests in the first 6 months of life, appears a large horizontal esodeviation, may be accompanied by latent nystagmus, compensatory head rotation, and cross-fixation syndrome. This type of strabismus occurs in infants with normal age-related refraction and normal neurological status. The clinical approach to tactics and methods of treatment of infantile esotropia varies widely in the strabismus world. There are conflicting opinions regarding the following issues: the optimal timing for the operation, the most effective type of operation, and what determines the favorable outcome of the treatment of essential congenital esotropia. Conclusion. Many aspects of EIE remain controversial and poorly defined. To optimally realize the main goal of EIE treatment – achieving orthoposition with the subsequent formation of binocular vision – is a feasible task, which will soon find a solution. Key words: essential infantile esotropia, latent nystagmus, cross fixation syndrome, binocular vision

Comparison of Bimedial Internal Rectus Retraction and Faden Surgeries in Patients with Infantile Esotropia

Amaç: İnfantil ezotropyalı (ET) olgu grubunda uygulanan bimedial iç rektus geriletme (bimedial geriletme) ve bimedial iç rektusa Faden sütüru konulması (bimedial Fd) yöntemlerinin etkinliğini karşılaştırmaktır.&#x0D; Gereç ve Yöntemler: Olgular iki gruba ayrıldı. Birinci grupta bimedial geriletme uygulanan 48 olgu (%45.3) , ikinci grupta bimedial Fd uygulanan 58 olgu (%54.7) mevcuttu. &#x0D; Sonuçlar: Yapılan cerrahiler sonrası son muayene sonucunda bimedial geriletme grubunda kayma miktarı yakında 5.69 Δ, uzakta 4.84 Δ’ di. Bimedial Fd grubunda yakında kayma miktarı 4.63 Δ, uzakta 3.51 Δ’ di. Bimedial geriletme grubunda 33 (%68.75) olguda başarı elde edilirken; bimedial Fd grubunda 42 (%72.4) olguda başarı elde edildi ve aralarındaki fark istatistiksel olarak anlamlı değildi.&#x0D; Tartışma: Bu iki cerrahi tip karşılaştırıldığında başarı, konsekütif ekzotropya(XT) ve reoperasyon açısından birbirlerine üstünlükleri yoktu. Sadece disoasiye vertikal deviasyonu (DVD) düzeltici etki bimedial Fd grubunda daha iyiydi.

What to expect from primary inferior oblique overaction after esotropia surgery

BackgroundOverelevation in adduction is common in patients with primary esotropia. This study evaluates the variation in ocular motility pattern in patients with primary inferior oblique (IO) muscle overaction after esotropia surgery.MethodsThe medical records of consecutive patients who underwent surgery for infantile, partially accommodative, and basic esotropia over eleven years and had at least one year of follow-up were reviewed. Patients with primary inferior oblique muscle overaction (IOOA) presented at baseline or during follow-up were selected and divided according to the first surgery performed concurrently with horizontal rectus surgery: without IO recession (NO-recess), with unilateral IO recession (UNIL-recess), and with bilateral IO recession (BIL-recess). The success (version normalisation or at least 2 points upgrade in severity scale [0–4] in the operated eye), recurrence rates, and the evolution of the non-operated IO muscles were evaluated.ResultsOne hundred and ten patients were included – 53 NO-recess, 26 UNIL-recess, and 31 BIL-recess. Medial rectus muscle posterior fixation sutures surgery (PFS) was performed in 88.2% of patients for esotropia. A recession with graded anterior transposition was the weakening IO procedure. In the NO-recess group, 28 (52.8%) patients normalised their mild IOOA after PFS surgery alone. In the UNI-recess group, the success rate was 88.5%, with 16 (61.5%) patients showing worsened IO muscle of the fellow eye, which prompted additional surgery in 10 patients. In the BIL-recess group, all 31 patients improved the adduction pattern of the operated eye for an 80.6% success rate (6 improved marginally).ConclusionGraded anterior transposition of the inferior oblique muscle effectively normalises versions. However, it’s frequent for a contralateral overaction to become manifest after unilateral IO surgery.

A study of clinical, etiological demographic profile of patients with concomitant esotropia between ages 0-10 years

A study of clinical, etiological demographic profile of patients with concomitant esotropia between ages 0-10 years in a tertiary care hospital to assess various clinical patterns and refractive errors.It is a prospective observation study of patients with concomitant esotropia conducted at Sarojini Devi Eye Hospital, Hyderabad from September 2016 to March 2018. The study included 100 patients who attended the squint department, with chief complaints of inward deviation of eyes. A total of 100 patients were examined, 37 (37%) were of the 0-5 age group, and 63 (63%) were of the 6-10 age group. 41(41%) were male 59 (59%) were of female. 50 (50%) were from urban areas and 50 (50%) rural areas.The majority of the cases were of infantile esotropia 39 (39%) followed by Basic esotropia 34 (34%) sensory esotropia 12 (12%), accommodative esotropia 6 (6%), partially accommodative esotropia 5 (5%) and esotropia in myopia 4 (4%).Amblyopia was seen in 69 (69%) of cases which majority improved with amblyopia therapy. The most common refractive error was hypermetropia 76 (76%) and Myopia was seen in 24 (24%) of cases. AHP in 5.12% of cases, DVD in 15.38%, of cases, IOOA in (64.10%), DVD and IOOA in 10.25% of cases, manifest nystagmus in 10.25% of cases, manifest latent nystagmus in 5.12% of cases were seen.This study provides data on the most prevalent forms and associations of concomitant esotropia. Knowledge of various clinical types and timely intervention will help in the development of binocular single vision.

Efficacy of anti-suppression therapy in improving binocular vision in children with small-angle Esotropia

PurposeTo evaluate the efficacy of anti-suppression exercises in children with small-angle esotropia in achieving binocular vision. MethodsA retrospective review of patients aged 3–8 years who underwent anti-suppression exercises for either monocular or alternate suppression between January 2016 and December 2021 was conducted. Patients with esotropia less than 15 prism diopters (PD) and visual acuity ≥ 6/12 were included. Patients with previous intra-ocular surgery or less than three-month follow-up were excluded. Success was defined as the development of binocular single vision (BSV) for distance, near, or both (measured clinically with either the 4 prism base out test or Worth four dot test) and maintained at two consecutive visits. Qualified success was defined as the presence of diplopia response for both distance and near. Additionally, improvement in near stereo acuity was measured using the Stereo Fly test. ResultsEighteen patients with a mean age of 5.4 ± 1.38 years (range 3–8 years) at the time of initiation of exercises were included in the study. The male female ratio was 10:8. The mean best corrected visual acuity was 0.18 LogMAR unit(s) and the mean spherical equivalent was +3.8 ± 0.14 diopters (D). The etiology of the esotropia was fully accommodative refractive esotropia (8), microtropia (1), post–operative infantile esotropia (4), partially accommodative esotropia (1), and post-operative partially accommodative esotropia (4). Patients received either office-based, home-based, or both modes of treatment for an average duration of 4.8 months (range 3–8). After therapy, BSV was achieved for either distance or near in 66.6 % of patients (95 % CI = 40.03–93.31 %). Binocular single vision for both distance and near was seen in 50 % of children. Qualified success was observed in 38.46% of patients. Persistence of suppression was observed in one patient (5.5 %). Near stereopsis improved to 200 s of arc or more in 60% of the patients. The mean esotropia reduced from 5.7 ± 4.0 PD for distance and 6.2 ± 4.66 PD for near to 2.7 ± 2.4 PD and 3.38 ± 4.7 PD respectively, at the last follow-up (p-value 0.004 and 0.006). Failure of therapy was noticed after six months of follow-up in the child with infantile esotropia. ConclusionAnti-suppression exercises may be beneficial to improve binocular vision functions in children with small-angle esotropias of variable etiologies. Recurrence of suppression after cessation of therapy is possible, warranting regular follow up.

A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C.

Pontocerebellar hypoplasia (PCH) is a rare heterogeneous neurodegenerative disorder affecting the pons and cerebellum and is currently classified into 17 types (PCH1-PCH17). PCH1 is distinguishable from other types by the association of spinal motor neuron dysfunction. Based on the underlying genetic etiology, PCH1 is further classified into 6 different subtypes (PCH1 A-F). Of them, PCH type 1C is caused by pathogenicvariants in EXOSC8 gene and so far, only four families have been described in the literature. In this study, we report a new patient with PCH1 who proved by whole-exome sequencing to harbor a novel homozygous missense variant in the splice region of EXOSC8 gene (c.238 G > A; p.Val80Ile). Studying mRNA of the patient confirmed that this variant results in skipping of exon 5 of the gene and early protein truncation. Our patient presented with the main clinical findings of PCH type 1C including psychomotor retardation, spasticity, spinal muscle atrophy, and respiratory problems. However, unlike most of the reported cases, he did not develop hearing or visual impairment and displayed a longer survival. In addition, our patient had dysmorphic facies, nystagmus, congenital esotropia and contractures which were infrequently described in patients with EXOSC8. Diaphragmatic hernia, dilated lateral ventricles, hypoplastic temporal lobes, and thinning of the brain stem were additional new findings noted in our patient. This study presents the fifth family with this extremely rare type of PCH and expands the associated clinical and brain imaging findings.