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Genes May 2024Myogenic transcription factors with a basic helix-loop-helix (bHLH) such as MYOD, myogenin, MRF4, and MYF5 contribute to muscle differentiation and regulation. The gene...
Myogenic transcription factors with a basic helix-loop-helix (bHLH) such as MYOD, myogenin, MRF4, and MYF5 contribute to muscle differentiation and regulation. The gene located on chromosome 12 encodes for myogenic factor 5 (MYF5), which has a role in skeletal and extraocular muscle development and rib formation. Variants in were found to cause external ophthalmoplegia with rib and vertebral anomalies (EORVA), a rare recessive condition. To date, three homozygous variants in have been reported to cause EORVA in six members of four unrelated families. Here, we present a novel homozygous frameshift variant, c.596dupA p. (Asn199Lysfs*49), causing premature protein termination and presenting with external ophthalmoplegia, ptosis, and scoliosis in three siblings from a consanguineous family of Pakistani origin. With four variants now discovered, genetic testing and paediatric assessment for extra-ocular features should be considered in all cases of congenital ophthalmoplegia.
Topics: Humans; Frameshift Mutation; Male; Female; Myogenic Regulatory Factor 5; Ophthalmoplegia; Ribs; Pedigree; Spine; Child; Homozygote
PubMed: 38927634
DOI: 10.3390/genes15060699 -
Ceska a Slovenska Oftalmologie :... 2024This retrospective clinical study evaluates the results of surgical treatment of patients diagnosed with intermittent exotropia of the divergence excess type. The study...
AIM
This retrospective clinical study evaluates the results of surgical treatment of patients diagnosed with intermittent exotropia of the divergence excess type. The study compares the results of surgery delayed due to the Covid-19 pandemic (patients underwent the surgery after the age of eight), versus a group of younger children.
MATERIALS AND METHODS
The objective angle of deviation and quality of binocular functions were examined. The follow-up period was six months after surgery. The patients were divided into two groups according to age: 4-7 years and 8-13 years. Each group included 20 patients. The second group comprised patients whose surgery was postponed due to restrictions on elective surgery during the ongoing pandemic. The surgery took place at the University Hospital in Pilsen. Angle of deviation and binocular functions were examined before surgery, postoperatively, and three and six months after surgery. Data were collected retrospectively and statistically processed. The main values were plotted in charts.
RESULTS
Accordance between the angle of deviation before surgery in both groups was statistically demonstrated. During the six-month follow-up period, the median angle of deviation was statistically without proof of disparity between the groups. Six months after surgery, an objective angle of deviation within the limit ±5 degrees was achieved in 65% of patients from the first group and in 75% from the second group. Binocular vision before surgery was statistically without proof of difference between both groups. However the statistical processing demonstrated a difference between the two groups six months after the surgery. Better binocular functions were achieved by the younger children in the first group.
CONCLUSION
The objective deviation angle was comparable in both study groups prior to surgery as well as six months after the surgery. The first group of younger patients attained a higher quality of binocular functions within the six-month follow-up period compared to children operated on after the age of eight. This claim was statistically verified.
Topics: Humans; Child; Exotropia; Retrospective Studies; Child, Preschool; Adolescent; Male; Female; Ophthalmologic Surgical Procedures; COVID-19; Vision, Binocular
PubMed: 38925902
DOI: 10.31348/2024/19 -
Frontiers in Neuroscience 2024Currently, there is no established system for quantifying patterns of ocular ductions. This poses challenges in tracking the onset and evolution of ocular motility...
Currently, there is no established system for quantifying patterns of ocular ductions. This poses challenges in tracking the onset and evolution of ocular motility disorders, as current clinical methodologies rely on subjective observations of individual movements. We propose a protocol that integrates image processing, a statistical framework of summary indices, and criteria for evaluating both cross-sectional and longitudinal differences in ductions to address this methodological gap. We demonstrate that our protocol reliably transforms objective estimates of ocular rotations into normative patterns of total movement area and movement symmetry. This is a critical step towards clinical application in which our protocol could first diagnose and then track the progression and resolution of ocular motility disorders over time.
PubMed: 38919910
DOI: 10.3389/fnins.2024.1324047 -
BMC Ophthalmology Jun 2024The success of the strabismus surgery can hinge on several factors. One of these factors is refractive condition like hyperopia or myopia. Our study seeks to evaluate...
BACKGROUND
The success of the strabismus surgery can hinge on several factors. One of these factors is refractive condition like hyperopia or myopia. Our study seeks to evaluate the surgical outcomes in patients with esotropia and myopia.
METHODS
This case-control study encompassed all surgical cases of esotropia at Torfe and Negah Hospital between 2016 and 2021, which satisfied our specified inclusion criteria. The initial variables from electronic medical records were collected, including demographic, clinical, and surgery-related factors. At the final follow-up appointment, the level of eye deviation, both at distance and near, was recorded. We considered the operation a "success" for patients with a post-surgery distance eye deviation of 10(Pd) or less. Patients with greater deviation were classified as surgery failure. Statistical analyses were executed using SPSS software (version 16.0), and a P-value less than 0.05 was considered significant.
RESULTS
Of the 194 patients evaluated, 112 were incorporated into the study. Surgical failure was observed in 14.29% of myopic patients, 29.79% of hyperopic patients, and 31.82% of emmetropic patients. The myopia group displayed a 0.19 odd ratio for surgical failure compared to the combined hyperopia and emmetropia groups, not statistically significant (OR: 0.19, CI 95%: 0.03-1.02). Additionally, patients diagnosed with Lateral Rectus Under-action were found to be 6.85 times more likely to experience surgery failure(OR: 6.85, CI 95%: 1.52-30.94). An elevated risk of surgical failure was also identified in patients who underwent Inferior Oblique Weakening procedure, indicated by a 3.77-fold increase in the odds ratio for failure(OR: 3.77, CI 95%: 1.08-13.17).
CONCLUSION
In our study, despite numerical disparities, there was no statistical difference among the success rates of all esotropia patients with different refractive errors. The patients with LRUA or IOOA showed lower success rates. Myopic patients had higher post-op overcorrection with lower reoperation rates compared to hyperopic or emmetropic patients.
Topics: Humans; Esotropia; Male; Female; Ophthalmologic Surgical Procedures; Case-Control Studies; Oculomotor Muscles; Child; Visual Acuity; Child, Preschool; Vision, Binocular; Retrospective Studies; Adult; Refraction, Ocular; Myopia; Adolescent; Hyperopia; Treatment Outcome; Middle Aged; Young Adult; Follow-Up Studies
PubMed: 38918731
DOI: 10.1186/s12886-024-03531-5 -
Scientific Reports Jun 2024We aim to explore the alterations of objective ocular torsion after unilateral lateral rectus recession-medial rectus resection (R&R) for intermittent exotropia (IXT)....
We aim to explore the alterations of objective ocular torsion after unilateral lateral rectus recession-medial rectus resection (R&R) for intermittent exotropia (IXT). Seventy-two IXT patients undergoing R&R between March and June 2023 were enrolled. Ophthalmological examinations were performed before surgery and at 1 week and 1 month after surgery, mainly including prism and alternate cover test and optical coherence tomography. The mean disc-foveal angle of eyes showing intorsion significantly increased from - 1.5 ± 0.9° preoperatively to 2.0 ± 2.0° at 1 week (P = 0.0227) and 2.2 ± 1.6° at 1 month postoperatively (P = 0.0054). The mean disc-foveal angle of eyes exhibiting extorsion significantly reduced from 12.8 ± 1.9° preoperatively to 9.8 ± 3.1° at 1 week (P < 0.0001) and 9.7 ± 2.7° at 1 month postoperatively (P < 0.0001). The improvement of ocular extorsion at postoperative 1 month was more pronounced in patients with extorsion in operative eye compared to those with extorsion in inoperative eye (P = 0.0101). The improvement of ocular torsion was observed following R&R for IXT, with a greater effect noted in cases where the surgery was performed on the eye exhibiting extorsion.
Topics: Humans; Exotropia; Male; Female; Oculomotor Muscles; Child; Ophthalmologic Surgical Procedures; Child, Preschool; Adolescent; Tomography, Optical Coherence; Adult; Torsion Abnormality; Young Adult; Treatment Outcome
PubMed: 38906967
DOI: 10.1038/s41598-024-65193-z -
Indian Journal of Ophthalmology Jul 2024To evaluate the effect of topical carbonic anhydrase inhibitor (brinzolamide) versus placebo on visual function and waveforms in infantile nystagmus syndrome (INS). (Randomized Controlled Trial)
Randomized Controlled Trial
PURPOSE
To evaluate the effect of topical carbonic anhydrase inhibitor (brinzolamide) versus placebo on visual function and waveforms in infantile nystagmus syndrome (INS).
DESIGN
Prospective, placebo-controlled, double-blind, cross-over study.
METHODS
Setting- A tertiary eye care center. Patients- Cases of idiopathic INS with and without abnormal head posture aged ≥10 years who had not received previous treatment for nystagmus. Intervention- Patients were randomized into two groups. Group 1 was given placebo for 3 months, and after a washout period of 7 days started on topical brinzolamide for the next 3 months. In group 2, the order was reversed. The drops were administered topically three times (every 8 hours) in both eyes. Outcome measure- Binocular best corrected visual acuity (BCVA) using the ETDRS chart, eXpanded nystagmus acuity function (NAFX) score and INS waveforms obtained from eye movement recordings, intraocular pressure (IOP) by Goldmann applanation tonometer, near stereopsis by TNO stereo test, and change in abnormal head posture before and after intervention in the null position.
RESULTS
A total of 29 cases completed the study (23 with abnormal head posture; 6 without abnormal head posture).
UNLABELLED
A significant improvement was noted in INS waveform characteristics, mean NAFX score (P < 0.001), and mean binocular visual acuity (P < 0.001) with topical brinzolamide in comparison to baseline as well as placebo. No significant change in head position and stereopsis was noted. No side effects were reported with 3 months of brinzolamide therapy.
CONCLUSIONS
While brinzolamide shows improvement in visual acuity and NAFX score in idiopathic INS, its clinical significance needs further evidence.
Topics: Humans; Carbonic Anhydrase Inhibitors; Double-Blind Method; Male; Female; Visual Acuity; Prospective Studies; Cross-Over Studies; Thiazines; Sulfonamides; Administration, Topical; Child; Adult; Ophthalmic Solutions; Adolescent; Nystagmus, Congenital; Treatment Outcome; Young Adult; Follow-Up Studies; Middle Aged; Eye Movements; Vision, Binocular
PubMed: 38905461
DOI: 10.4103/IJO.IJO_1010_23 -
Medicine Jun 2024To evaluate the usefulness of the Tokyo Metropolitan Government's Eye Health Screening Program for 3-year-old children, which combines the Single-Picture Optotype Visual... (Observational Study)
Observational Study
Combination of 2 test methods, single-picture optotype visual acuity chart and spot™ vision screener, in the eye health screening program for 3-year-old children in Tokyo: A retrospective, observational study.
To evaluate the usefulness of the Tokyo Metropolitan Government's Eye Health Screening Program for 3-year-old children, which combines the Single-Picture Optotype Visual Acuity Chart (SPVAC) and Spot™ Vision Screener (SVS) tests. This was a retrospective, observational, matched study. Patients who underwent the eye health screening program and had abnormalities were classified into 3 groups according to the outcomes of the SPVAC (SPVAC-passed, SPVAC-P; SPVAC-failed, SPVAC-F) and SVS (SVS-passed, SVS-P; SVS-failed, SVS-F) tests as follows: SPVAC-P/SVS-F, SPVAC-F/SVS-P, and SPVAC-F/SVS-F. We evaluated the age at examination, SPVAC and SVS test success rates, and SVS refractive power. Additionally, the rates of refractive error, amblyopia, and strabismus were compared among the 3 groups. The SPVAC-P/SVS-F, SPVAC-F/SVS-P, and SPVAC-F/SVS-F groups comprised 158, 28, and 74 eyes, respectively. The mean age was 37.4 months. The success rates of the SPVAC and SVS tests were 69.8% and 96.2%, respectively. The mean SVS hyperopia value in the SPVAC-F/SVS-F group (2.71 ± 1.50 D) was significantly higher than that of the SPVAC-P/SVS-F group. The mean SVS astigmatism and myopia values were -2.21 diopter (D) ± 1.09 D and -3.40 ± 1.82 D, respectively; they did not differ significantly from that of the SPVAC-P/SVS-F group. Significant differences were observed in the refractive error, amblyopia, and strabismus rates among the 3 groups. Regarding disease determination, no significant difference was observed among participants who passed and failed the SPVAC test, regardless of the outcome of the other test. However, a significant difference was observed between those passing and failing the SVS tests. The SPVAC method used to screen 3-year-old children should be modified to commence at 42 months of age or be replaced with a single Landolt C test. The SVS test is useful for screening younger patients. Furthermore, the SVS test showed that the degree of hyperopia was higher in patients who did not pass the SPVAC test.
Topics: Humans; Retrospective Studies; Child, Preschool; Male; Female; Vision Screening; Tokyo; Visual Acuity; Strabismus; Refractive Errors; Amblyopia; Vision Tests
PubMed: 38905427
DOI: 10.1097/MD.0000000000038488 -
Medicine Jun 2024To evaluate pre- and postoperative changes in the subjective awareness of exodeviation in patients with intermittent exotropia and compare pediatric and adult patients.... (Comparative Study)
Comparative Study Observational Study
To evaluate pre- and postoperative changes in the subjective awareness of exodeviation in patients with intermittent exotropia and compare pediatric and adult patients. This retrospective study included pediatric (6-17 years) and adult patients (≥18 years) with intermittent exotropia who underwent surgery. Patients with subjective awareness of exodeviation associated with exotropia were included. Postoperative improvement was defined as a decrease in the subjective awareness of exodeviation and alleviation of associated symptoms after surgery. Changes in subjective awareness of exodeviation after surgery were evaluated and compared between pediatric and adult patients. Clinical factors associated with postoperative improvement in subjective awareness of exodeviation were analyzed. A total of 195 patients (159 pediatric and 36 adult) were included. Among the included patients, 145 (74.4%, 145/195) reported postoperative improvements in their subjective awareness of exodeviation. A lower percentage of adult patients (15/36, 41.7%) showed postoperative improvement in subjective awareness of exodeviation than that of pediatric patients (130/159, 81.8%, P < .001). The level of distant control was significantly associated with postoperative improvement in subjective awareness of exodeviation in adult patients (odds ratio, 1.151; 95% confidence interval, 0.030-0.758; P = .022). There was a significant difference in the postoperative change in the subjective awareness of exodeviation between pediatric and adult patients with intermittent exotropia. Adult patients are less likely to exhibit postoperative improvement in subjective awareness of exodeviation than pediatric patients. Adult patients with a better level of distant control are more likely to show postoperative improvement in their subjective awareness of exodeviation.
Topics: Humans; Exotropia; Retrospective Studies; Male; Female; Adolescent; Child; Adult; Postoperative Period; Middle Aged; Ophthalmologic Surgical Procedures; Awareness; Age Factors; Young Adult; Treatment Outcome
PubMed: 38905363
DOI: 10.1097/MD.0000000000038696 -
Journal of Vision Jun 2024Binocular double vision in strabismus is marked by diplopia (seeing the same object in two different directions) and visual confusion (seeing two different objects in... (Review)
Review
Binocular double vision in strabismus is marked by diplopia (seeing the same object in two different directions) and visual confusion (seeing two different objects in the same direction). In strabismus with full visual field, the diplopia coexists with visual confusion across most of the binocular field. With visual field loss, or with use of partial prism segments for field expansion, the two phenomena may be separable. This separability is the focus of this review and offers new insights into binocular function. We show that confusion is necessary but is not sufficient for field expansion. Diplopia plays no role in field expansion but is necessary for clinical testing of strabismus, making such testing difficult in field loss conditions with confusion without diplopia. The roles of the three-dimensional structure of the real world and the dynamic of eye movements within that structure are considered as well. Suppression of one eye's partial view under binocular vision that develops in early-onset (childhood) strabismus is assumed to be a sensory adaption to diplopia. This assumption can be tested using the separation of diplopia and confusion.
Topics: Humans; Vision, Binocular; Visual Fields; Diplopia; Strabismus; Eye Movements
PubMed: 38899959
DOI: 10.1167/jov.24.6.13 -
Sensors (Basel, Switzerland) May 2024In this study, we propose a deep learning-based nystagmus detection algorithm using video oculography (VOG) data to diagnose benign paroxysmal positional vertigo (BPPV)....
In this study, we propose a deep learning-based nystagmus detection algorithm using video oculography (VOG) data to diagnose benign paroxysmal positional vertigo (BPPV). Various deep learning architectures were utilized to develop and evaluate nystagmus detection models. Among the four deep learning architectures used in this study, the CNN1D model proposed as a nystagmus detection model demonstrated the best performance, exhibiting a sensitivity of 94.06 ± 0.78%, specificity of 86.39 ± 1.31%, precision of 91.34 ± 0.84%, accuracy of 91.02 ± 0.66%, and an -score of 92.68 ± 0.55%. These results indicate the high accuracy and generalizability of the proposed nystagmus diagnosis algorithm. In conclusion, this study validates the practicality of deep learning in diagnosing BPPV and offers avenues for numerous potential applications of deep learning in the medical diagnostic sector. The findings of this research underscore its importance in enhancing diagnostic accuracy and efficiency in healthcare.
Topics: Humans; Deep Learning; Algorithms; Benign Paroxysmal Positional Vertigo; Nystagmus, Pathologic; Video Recording; Male; Female; Neural Networks, Computer; Middle Aged
PubMed: 38894208
DOI: 10.3390/s24113417