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1.
Am J Ophthalmol ; 2022 Jun 21.
Artigo em Inglês | MEDLINE | ID: mdl-35750218

RESUMO

PURPOSE: To determine success rate and complications associated with nasal transposition of the split lateral rectus muscle (NTSLR) for treating bilateral 3rd-nerve palsy. DESIGN: Retrospective, interventional case series METHODS: : Setting: International, multicenter registry Study population: All patients with bilateral 3rd-nerve palsy treated with NTSLR. OBSERVATION: Sensorimotor evaluations before and 6-months after unilateral or bilateral NTSLR. OUTCOME MEASURES: Post-operative horizontal alignment ≤ 15 prism diopters (PD), intraoperative technical difficulties, and vision-threatening complications. The association of patient demographics and surgical technique with each outcome was analyzed using multivariable logistic regression. RESULTS: Thirty-four patients were included with a median age of 46 years (Interquartile range [IQR], 25-54 years) at surgery. The most common etiologies were ischemic (29%), neoplastic (15%), and congenital (12%). NTSLR performed unilaterally with alternative surgery on the opposite eye (65%) resulted in a median post-operative exotropia of 18 PD (IQR, 7-35 PD), and when performed bilaterally (35%) resulted in post-operative exotropia of 14 PD (IQR, 5-35 PD). Success was achieved in 50% of cases, intra-operative technical difficulties reported in 18%, and vision-threatening complications occurred in 21%. Attachment of the lateral rectus muscle ≥ 10 mm posterior to the medial rectus insertion was associated with increased vision-threatening complications (OR, 9.0; 95% CI, 1.3-99). CONCLUSIONS: NTSLR can address the large-angle exotropia associated with bilateral 3rd-nerve palsy. Surgeons should be aware that posterior placement of the lateral rectus muscle can increase the risk of vision-threatening complications, particularly serous choroidal effusion.

2.
Ophthalmology ; 2022 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-35500607

RESUMO

PURPOSE: To compare the reoperation rates after strabismus surgery with and without the adjustable suture technique. DESIGN: Retrospective cohort study. PARTICIPANTS: Patients 18 years of age or older in the Intelligent Research in Sight (IRIS)® Registry who underwent strabismus surgery between January 1, 2013, and December 31, 2018. METHODS: Data were collected from the electronic health records of practices participating in the IRIS Registry. The primary exposure of interest was use of the adjustable suture technique, identified by Current Procedural Terminology coding. MAIN OUTCOME MEASURES: The primary outcome was repeat strabismus surgery within 1 year of initial strabismus surgery. Odds ratios (ORs) were derived from a multivariable logistic regression model evaluating the association between the use of adjustable sutures and reoperation rate, adjusting for patient demographics and surgical factors. RESULTS: A total of 34 872 patients who underwent strabismus surgery during the study interval were identified: 72% underwent horizontal muscle surgery, 17% underwent vertical muscle surgery, and 11% underwent combined horizontal and vertical muscle surgery. Adjustable sutures were used in 18% of patients. The overall reoperation rate within 1 year of strabismus surgery was 7.7%. The 1-year reoperation rate was 6.0% for patients treated with adjustable sutures and 8.1% for patients treated without adjustable sutures (P < 0.001). The multivariable regression model revealed a statistically significant 30% decrease in the odds of reoperation within 1 year of surgery when adjustable sutures were used (OR, 0.70; 95% confidence interval [CI], 0.62-0.78), a 40% increase in those with a history of prior strabismus surgery (OR, 1.40; 95% CI, 1.28-1.53), and a 9% increase per decade of age at surgery (OR, 1.09; 95% CI, 1.06-1.11). CONCLUSIONS: In adults cared for in practices participating in the IRIS Registry, the adjustable suture technique was associated with a significantly lower reoperation rate within 1 year of undergoing horizontal or combined horizontal and vertical strabismus surgery. Adjustable suture use in vertical strabismus surgery alone did not reduce the 1-year reoperation rate significantly. A history of prior strabismus surgery was associated with increased odds of reoperation.

3.
J AAPOS ; 2022 Apr 23.
Artigo em Inglês | MEDLINE | ID: mdl-35472597

RESUMO

There is a nationwide shortage of pediatric ophthalmologists, with trends in fellowship applicants foreshadowing a continued reduction in the number of active pediatric ophthalmologists in the years ahead. In this study, we investigated whether similar fellowship applicant shortages exist in other pediatric surgical subspecialties. We compared the match statistics of six pediatric surgical fellowships from 2015 to 2020. During the 6-year interval, a median of 12.2 pediatric ophthalmology fellowship positions (IQR, 12.1-12.4) were offered per 100 graduating residents, 8.7% of ophthalmology residents (IQR, 8.3%-9.3%) pursued pediatric subspecialty training, and 72% of available pediatric fellowship positions (IQR, 69%-74%) were filled. Pediatric general surgery had the highest percentage of available fellowship positions filled, 99% (IQR, 98%-100%), which was significantly higher than for pediatric ophthalmology (P = 0.024). None of the other subspecialties had a significant difference in available positions filled compared to pediatric ophthalmology (P > 0.05).

6.
Hum Mutat ; 43(4): 487-498, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-35077597

RESUMO

A proper interaction between muscle-derived collagen XXV and its motor neuron-derived receptors protein tyrosine phosphatases σ and δ (PTP σ/δ) is indispensable for intramuscular motor innervation. Despite this, thus far, pathogenic recessive variants in the COL25A1 gene had only been detected in a few patients with isolated ocular congenital cranial dysinnervation disorders. Here we describe five patients from three unrelated families with recessive missense and splice site COL25A1 variants presenting with a recognizable phenotype characterized by arthrogryposis multiplex congenita with or without an ocular congenital cranial dysinnervation disorder phenotype. The clinical features of the older patients remained stable over time, without central nervous system involvement. This study extends the phenotypic and genotypic spectrum of COL25A1 related conditions, and further adds to our knowledge of the complex process of intramuscular motor innervation. Our observations indicate a role for collagen XXV in regulating the appropriate innervation not only of extraocular muscles, but also of bulbar, axial, and limb muscles in the human.


Assuntos
Artrogripose , Artrogripose/diagnóstico , Artrogripose/genética , Face , Humanos , Músculo Esquelético , Mutação , Fenótipo
7.
Am J Ophthalmol ; 237: 83-90, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-34780796

RESUMO

PURPOSE: To describe outcomes after treatment of Moebius syndrome (MBS) esotropia by adjustable bilateral medial rectus recession (BMR) with and without augmented superior rectus transposition (SRT). DESIGN: Retrospective case series. METHODS: Patients meeting 2014 diagnostic criteria for MBS and treated at Boston Children's Hospital between 2003 and 2019 were identified via billing records and chart review. Visual acuity, sensorimotor evaluations, strabismus procedures, and other clinical features were recorded. Surgical outcomes for patients treated with strabismus surgery (excluding those with prior surgery elsewhere) were evaluated. The primary outcome measure was postoperative alignment comparing treatment by adjustable BMR vs adjustable BMR+SRT. RESULTS: A total of 20 patients had MBS, and 12 of these (60%) were male. Fifteen patients (75%) had primary position esotropia, and all had bilateral abduction deficit. Eight of 20 patients met inclusion criteria for primary strabismus surgery outcome. Five had undergone adjustable BMR ranging from 4.5 to 6.5 mm. Three had undergone adjustable BMR+SRT, all with 4-mm medial rectus muscle recessions. Mean preoperative esotropia before treatment by BMR was 39.5 PD (± 15 PD) with mean postoperative esotropia 9 PD (± 7.9 PD) at 6 months. Mean preoperative esotropia before treatment by BMR+SRT was 70.8 PD (± 5.9 PD) with mean postoperative esotropia 2.5 PD (± 3.5 PD) at 6 months. Significantly greater reduction in esotropia resulted from BMR+SRT than from BMR (P = .036). CONCLUSIONS: BMR proved sufficient to treat esotropia <50 PD and BMR+SRT for greater esotropia in patients with MBS-associated abduction limitation.


Assuntos
Esotropia , Síndrome de Möbius , Estrabismo , Criança , Esotropia/cirurgia , Feminino , Humanos , Masculino , Síndrome de Möbius/diagnóstico , Síndrome de Möbius/cirurgia , Músculos Oculomotores/cirurgia , Procedimentos Cirúrgicos Oftalmológicos/métodos , Estudos Retrospectivos , Estrabismo/cirurgia , Resultado do Tratamento , Visão Binocular/fisiologia
8.
Ophthalmology ; 129(1): 77-85, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34534556

RESUMO

PURPOSE: Digital therapeutics are a new class of interventions that are software driven and are intended to treat various conditions. We developed and evaluated a dichoptic digital therapeutic for amblyopia, a neurodevelopmental disorder for which current treatments may be limited by poor adherence and residual vision deficits. DESIGN: Randomized controlled trial. PARTICIPANTS: One hundred five children 4 to 7 years of age with amblyopia were enrolled at 21 academic and community sites in the United States. Participants were randomized 1:1 to the treatment or comparison group, stratified by site. METHODS: We conducted a phase 3 randomized controlled trial to evaluate the safety and efficacy of a dichoptic digital therapeutic for amblyopia. Participants in the treatment group used the therapeutic at home for 1 hour per day, 6 days per week and wore glasses full-time. Participants in the comparison group continued wearing glasses full-time alone. MAIN OUTCOME MEASURES: The primary efficacy outcome was change in amblyopic eye visual acuity (VA) from baseline at 12 weeks, and VA was measured by masked examiners. Safety was evaluated using the frequency and severity of study-related adverse events. Primary analyses were conducted using the intention-to-treat population. RESULTS: Between January 16, 2019, and January 15, 2020, 105 participants were enrolled; 51 were randomized to the treatment group and 54 were randomized to the comparison group. At 12 weeks, amblyopic eye VA improved by 1.8 lines (95% confidence interval [CI], 1.4-2.3 lines; n = 45) in the treatment group and by 0.8 lines (95% CI, 0.4-1.3 lines; n = 45) in the comparison group. At the planned interim analysis (adjusted α = 0.0193), the difference between groups was significant (1.0 lines; P = 0.0011; 96.14% CI, 0.33-1.63 lines) and the study was stopped early for success, according to the protocol. No serious adverse events were reported. CONCLUSIONS: Our findings support the value of the therapeutic in clinical practice as an effective treatment. Future studies should evaluate the therapeutic compared with other methods and in additional patient populations.


Assuntos
Ambliopia/terapia , Tecnologia Digital , Ortóptica/métodos , Ambliopia/fisiopatologia , Criança , Pré-Escolar , Óculos , Feminino , Humanos , Masculino , Resultado do Tratamento , Visão Binocular/fisiologia , Acuidade Visual/fisiologia
10.
Am J Ophthalmol ; 235: 32-37, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-34283987

RESUMO

PURPOSE: To evaluate outcomes of botulinum toxin (BTX) injection of the inferior oblique (IO) muscle. DESIGN: Retrospective case series. METHODS: Setting: Single center, ophthalmology department at Boston Children's Hospital. STUDY POPULATION: All patients treated with IO muscle injection of BTX (onabotulinumtoxinA) between 2010 and 2020. OBSERVATION PROCEDURE: Sensorimotor evaluations at short-term (<2 months), medium-term (2-4 months), and long-term (≥4 months) intervals. OUTCOME MEASURE: Primary outcomes included median improvement in V-pattern strabismus and primary position hypertropia. Secondary outcomes included IO muscle overaction. Wilcoxon signed-rank tests were performed to identify differences before and after injection. RESULTS: Record review identified 20 patients with a median age of 4.5 (range, 1-69) years. Median BTX dose injected (31 IO muscles) was 5.0 (range, 3.0-7.0) units. Indications included V-pattern strabismus (N = 8), hypertropia (N = 7), or both (N = 5). Median long-term interval was 6.4 (range, 4.1-26.6) months. Injections were concurrent with treatment of horizontal strabismus in all but 3 cases. Median V-pattern magnitude changed from 10 prism diopters (PD) preoperatively to 0 PD short-term (P = .006) and 3.5 PD long-term (P = .34). Median hypertropia changed from 8.5 PD preoperatively to 1.5 PD short-term (P = .01) and 8 PD long-term (P = .87). Median IO muscle overaction grade improved significantly at short-term (P < .001) and long-term (P = .007) intervals. There were no complications associated with the IO muscle injections. CONCLUSIONS: BTX injection of the IO muscles can be a useful adjunct to the management of V-pattern strabismus. Intervention for primary position hypertropia may be helpful for short-term relief with no expectation of long-term benefit.


Assuntos
Músculos Oculomotores , Estrabismo , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Humanos , Lactente , Pessoa de Meia-Idade , Músculos Oculomotores/cirurgia , Procedimentos Cirúrgicos Oftalmológicos/efeitos adversos , Estudos Retrospectivos , Estrabismo/cirurgia , Resultado do Tratamento , Visão Binocular/fisiologia , Adulto Jovem
11.
Am J Ophthalmol ; 233: 48-56, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34303687

RESUMO

PURPOSE: Many clinicians treat unilateral amblyopia with glasses alone and initiate patching when needed; others start glasses and patching simultaneously. In this study, we reviewed the outcomes of the two approaches at our institution. DESIGN: Retrospective nonrandomized clinical trial. METHODS: Setting: Institutional practice. PATIENT POPULATION: All patients diagnosed with amblyopia at Boston Children's Hospital between 2010 and 2014. INCLUSION CRITERIA: Unilateral amblyopia (visual acuity (VA) 20/40 to 20/200 with interocular difference ≥3 lines,) age 3 to 12 years, with a 6-month follow-up visit. EXCLUSION CRITERIA: Deprivation amblyopia, prior amblyopia treatment, treatment other than patching, surgery. Patients were categorized as "simultaneous treatment" (concurrent glasses and patching therapy at their first visit) or "sequential treatment" (glasses alone at first visit, followed by patching therapy at second visit.) Observation procedures: Patient demographics, VA, and stereopsis were compared. OUTCOME MEASURES: VA and stereopsis at the last visit on treatment. RESULTS: We identified 98 patients who met inclusion criteria: 36 received simultaneous treatment and 62 sequential treatment. Median amblyopic eye VA improved similarly between the simultaneous (∆0.40; interquartile range [IQR], 0.56-0.30 logMAR) and sequential (∆0.40; IQR, 0.52-0.27 logMAR) groups. Patients without stereopsis at first visit had better stereopsis outcomes with sequential treatment (5.12 [IQR, 4.00-7.51] log stereopsis) compared with simultaneous treatment (8.01 [IQR, 5.65-9.21]) log stereopsis, P = 0.046). CONCLUSIONS: VA improved approximately 4 lines regardless of treatment type. For children without stereopsis at first presentation, sequential patching yielded better stereopsis outcomes. These findings require further validation and highlight the importance of evaluating stereopsis in future studies.


Assuntos
Ambliopia , Ambliopia/terapia , Criança , Pré-Escolar , Seguimentos , Humanos , Estudos Retrospectivos , Privação Sensorial , Resultado do Tratamento , Visão Binocular
12.
Hum Genet ; 140(12): 1709-1731, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34652576

RESUMO

Microtubules are formed from heterodimers of alpha- and beta-tubulin, each of which has multiple isoforms encoded by separate genes. Pathogenic missense variants in multiple different tubulin isoforms cause brain malformations. Missense mutations in TUBB3, which encodes the neuron-specific beta-tubulin isotype, can cause congenital fibrosis of the extraocular muscles type 3 (CFEOM3) and/or malformations of cortical development, with distinct genotype-phenotype correlations. Here, we report fourteen individuals from thirteen unrelated families, each of whom harbors the identical NM_006086.4 (TUBB3):c.785G>A (p.Arg262His) variant resulting in a phenotype we refer to as the TUBB3 R262H syndrome. The affected individuals present at birth with ptosis, ophthalmoplegia, exotropia, facial weakness, facial dysmorphisms, and, in most cases, distal congenital joint contractures, and subsequently develop intellectual disabilities, gait disorders with proximal joint contractures, Kallmann syndrome (hypogonadotropic hypogonadism and anosmia), and a progressive peripheral neuropathy during the first decade of life. Subsets may also have vocal cord paralysis, auditory dysfunction, cyclic vomiting, and/or tachycardia at rest. All fourteen subjects share a recognizable set of brain malformations, including hypoplasia of the corpus callosum and anterior commissure, basal ganglia malformations, absent olfactory bulbs and sulci, and subtle cerebellar malformations. While similar, individuals with the TUBB3 R262H syndrome can be distinguished from individuals with the TUBB3 E410K syndrome by the presence of congenital and acquired joint contractures, an earlier onset peripheral neuropathy, impaired gait, and basal ganglia malformations.


Assuntos
Paralisia Facial/genética , Fibrose/genética , Mutação , Oftalmoplegia/genética , Doenças do Sistema Nervoso Periférico/genética , Tubulina (Proteína)/genética , Anormalidades Múltiplas/genética , Adolescente , Adulto , Substituição de Aminoácidos , Arginina , Criança , Pré-Escolar , Paralisia Facial/diagnóstico , Paralisia Facial/fisiopatologia , Feminino , Fibrose/diagnóstico , Fibrose/fisiopatologia , Histidina , Humanos , Lactente , Masculino , Oftalmoplegia/diagnóstico , Oftalmoplegia/fisiopatologia , Doenças do Sistema Nervoso Periférico/diagnóstico , Doenças do Sistema Nervoso Periférico/fisiopatologia , Síndrome , Adulto Jovem
13.
J AAPOS ; 25(4): 217.e1-217.e6, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34246761

RESUMO

PURPOSE: To evaluate the best-corrected visual acuity and stereoacuity gains in children >7 years of age and adults with unilateral amblyopia treated with a prototype virtual reality-based binocular amblyopia therapy. METHODS: In this randomized, double masked, cross-in clinical trial, patients at Boston Children's Hospital with unilateral anisometropic and/or strabismic amblyopia and history of prior amblyopia treatment failure were randomized to either a full-treatment group (8 weeks of binocular treatment using therapeutic software application in virtual reality headset) or a sham-crossover group (4 weeks of sham treatment followed by 4 weeks of binocular treatment). Amblyopic eye visual acuity and stereoacuity were evaluated at 4, 8, and 16 weeks' follow-up. RESULTS: The study cohort included 20 participants (10 females), with a median age of 9 years (range, 7-38 years). In the full-treatment group (11 patients), the mean amblyopic eye logMAR visual acuity at 16 weeks was 0.49 ± 0.26, compared with 0.47 ± 0.20 at baseline. In the sham-crossover group, it was 0.51 ± 0.18 at 16 weeks, compared with 0.53 ± 0.21 at baseline. Stereoacuity (log arcsec) was significantly improved, from 7.3 ± 2 at baseline to 6.6 ± 2.3 at 8 weeks (P < 0.001) and 6.7 ± 2.6 at 16 weeks (P < 0.001). No significant adverse events (diplopia, asthenopia, or worsening strabismus) were noted in either group. CONCLUSIONS: Although the virtual reality-based prototype for binocular amblyopia therapy did not significantly improve visual acuity in the amblyopic eyes of older children and adults, stereoacuity did significantly improve compared with baseline; improvements were clinically minute. However, larger studies are required to confirm the results.


Assuntos
Ambliopia , Jogos de Vídeo , Realidade Virtual , Adolescente , Adulto , Ambliopia/terapia , Criança , Feminino , Humanos , Visão Binocular , Acuidade Visual , Adulto Jovem
14.
J AAPOS ; 25(4): 214.e1-214.e7, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34246763

RESUMO

PURPOSE: To report the results of a clinical study designed to evaluate the accuracy of the blinq pediatric vision scanner, which detects amblyopia and strabismus directly by means of retinal polarization scanning, unlike other vision screening devices, which infer possible disease based on detection of refractive risk factors. METHODS: Subjects 1-20 years of age were prospectively enrolled in this cross-sectional diagnostic accuracy study with planned enrollment of 200. All enrolled subjects were tested by individuals masked to the diagnosis, followed by complete ophthalmologic examination by pediatric ophthalmologists masked to the screening result. Patients previously treated for amblyopia or strabismus were analyzed separately. RESULTS: The study cohort comprised 193 subjects, 53 of whom had been previously treated, leaving 140 treatment-naïve subjects, including 65 (46%) with amblyopia or strabismus, 11 (8%) with risk factors/suspected binocular vision deficit without amblyopia/strabismus, and 64 (46%) controls. Sensitivity was 100%, with all 66 patients with referral-warranted ocular disease referred. Five patients with intermittent strabismus receiving pass results were deemed "acceptable pass" when considering patient risk factors and amblyogenic potential. Specificity was 91%, with 7 incorrect referrals. Subanalysis of children aged 2-8 years (n = 92) provided similar results (sensitivity 100%; specificity 89%). CONCLUSIONS: In this study cohort, the blinq showed very high sensitivity and specificity for detecting referral-warranted unilateral amblyopia and strabismus. Implementation of the device in vision screening programs could lead to improved rates of disease detection and reduction in false referrals.


Assuntos
Ambliopia , Erros de Refração , Estrabismo , Seleção Visual , Ambliopia/diagnóstico , Criança , Estudos Transversais , Humanos , Sensibilidade e Especificidade , Estrabismo/diagnóstico
15.
Am J Ophthalmol ; 230: 200-206, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-33992614

RESUMO

PURPOSE: To identify demographic and disease-related characteristics predictive of Lost-to-Follow-Up (LTFU) status in amblyopia treatment and create a risk model for predicting LTFU status. DESIGN: Retrospective cohort study METHODS: Setting: Single-center, ophthalmology department at Boston Children's Hospital (BCH). PATIENTS: 2037 patients treated for amblyopia at BCH between 2010 and 2014. OBSERVATION PROCEDURE: LTFU was defined as patients who did not return after initial visit, excluding those who came for second opinion. Multiple variables were tested for association with LTFU status. OUTCOME MEASURE: Odds ratio of LTFU risk associated with each variable. Multivariate logistic regression was used to create a risk score for predicting LTFU status. RESULTS: A large proportion of patients (23%) were LTFU after first visit. Older age, nonwhite race, lack of insurance, previous glasses or atropine treatment, and longer requested follow-up intervals were independent predictors of LTFU status. A multivariable risk score was created to predict probability of LTFU (area under the curve 0.68). CONCLUSIONS: Our comprehensive amblyopia database allows us to predict which patients are more likely to be LTFU after baseline visit and develop strategies to mitigate these effects. These findings may help with practice efficiency and improve patient outcomes in the future by transitioning these analyses to an electronic medical record that could be programmed to provide continually updated decision support for individual patients based on large data sets.


Assuntos
Ambliopia , Idoso , Ambliopia/diagnóstico , Ambliopia/terapia , Criança , Seguimentos , Humanos , Modelos Logísticos , Perda de Seguimento , Estudos Retrospectivos
16.
J AAPOS ; 25(3): 135-136, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33989794
17.
Clin Ophthalmol ; 15: 1443-1444, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33854298
18.
J AAPOS ; 25(2): 87.e1-87.e6, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33905837

RESUMO

BACKGROUND: The effectiveness of amblyopia therapy can be limited by poor adherence. Dichoptic therapies are a new approach, but recent trials have demonstrated difficulty maintaining high adherence over extended periods of at-home treatment. We evaluated the efficacy and adherence of Luminopia One-a dichoptic treatment that applies therapeutic modifications to streaming content chosen by the patient. METHODS: This single-arm, multicenter prospective pilot study enrolled children aged 4-12 with anisometropic, strabismic, or mixed amblyopia at 10 pediatric ophthalmic and optometric practices across the United States. The therapeutic was prescribed for 1 hour/day, 6 days/week for 12 weeks of at-home use. The primary endpoint was best-corrected visual acuity (BCVA) at the 12-week follow-up visit. RESULTS: In total, 90 participants (mean age, 6.7 ± 2.0 years) were enrolled, and 73/90 participants (81%) had prior treatment beyond refractive correction. For those who completed the 12-week visit, mean amblyopic eye BCVA improved from 0.50 logMAR to 0.35 logMAR (1.5 logMAR lines; 95% CI, 1.2-1.8 lines; P < 0.0001). Mean stereoacuity improved by 0.28 log arcsec (95% CI, 0.14-0.42 log arcsec; P < 0.0001). Median adherence was 86% (interquartile range, 70%-97%). CONCLUSIONS: In our study cohort, adherence over the 12-week study period was high, and participants demonstrated clinically and statistically significant improvements in visual acuity and stereoacuity.


Assuntos
Ambliopia , Ambliopia/terapia , Criança , Pré-Escolar , Seguimentos , Humanos , Projetos Piloto , Estudos Prospectivos , Privação Sensorial , Resultado do Tratamento , Acuidade Visual
19.
Semin Ophthalmol ; 36(4): 282-288, 2021 May 19.
Artigo em Inglês | MEDLINE | ID: mdl-33656963

RESUMO

Traditional therapies to treat amblyopia, such as optical correction or occlusion/penalization of the non-amblyopic eye, are efficacious but are not without limitations such as poor adherence and decreased success with increasing age. Recently, there has been an interest in new amblyopia therapies, some using binocular techniques, through a variety of platforms including video games, movies, and virtual reality. Overall, available efficacy results for these treatments are highly variable.


Assuntos
Ambliopia , Jogos de Vídeo , Ambliopia/terapia , Humanos , Visão Binocular , Acuidade Visual
20.
Eur J Hum Genet ; 29(5): 816-826, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33649541

RESUMO

Variants in multiple tubulin genes have been implicated in neurodevelopmental disorders, including malformations of cortical development (MCD) and congenital fibrosis of the extraocular muscles (CFEOM). Distinct missense variants in the beta-tubulin encoding genes TUBB3 and TUBB2B cause MCD, CFEOM, or both, suggesting substitution-specific mechanisms. Variants in the alpha tubulin-encoding gene TUBA1A have been associated with MCD, but not with CFEOM. Using exome sequencing (ES) and genome sequencing (GS), we identified 3 unrelated probands with CFEOM who harbored novel heterozygous TUBA1A missense variants c.1216C>G, p.(His406Asp); c.467G>A, p.(Arg156His); and c.1193T>G, p.(Met398Arg). MRI revealed small oculomotor-innervated muscles and asymmetrical caudate heads and lateral ventricles with or without corpus callosal thinning. Two of the three probands had MCD. Mutated amino acid residues localize either to the longitudinal interface at which α and ß tubulins heterodimerize (Met398, His406) or to the lateral interface at which tubulin protofilaments interact (Arg156), and His406 interacts with the motor domain of kinesin-1. This series of individuals supports TUBA1A variants as a cause of CFEOM and expands our knowledge of tubulinopathies.


Assuntos
Fibrose/genética , Malformações do Desenvolvimento Cortical/genética , Oftalmoplegia/genética , Tubulina (Proteína)/genética , Adolescente , Sítios de Ligação , Criança , Feminino , Fibrose/patologia , Heterozigoto , Humanos , Masculino , Malformações do Desenvolvimento Cortical/patologia , Mutação de Sentido Incorreto , Oftalmoplegia/patologia , Tubulina (Proteína)/química , Tubulina (Proteína)/metabolismo
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