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Introduction: The purpose of this study is to assess the prevalence of comprehensive eye examinations in multiethnic preschool children, including children with visually significant eye conditions, and identify factors associated with comprehensive eye examinations. Methods: A sample of 9,197 African American, Hispanic, Asian American, and non-Hispanic White children aged 6-72 months was recruited for the Multi-Ethnic Pediatric Eye Disease Study from 2003 to 2011. Logistic regression performed in 2022 identified independent factors associated with parent-reported history of comprehensive eye examinations. The proportion of children with previous comprehensive eye examinations and the proportion with undetected amblyopia or strabismus were measured. Results: The prevalence of comprehensive eye examinations was 6.3% overall and 38.3%, 24.8%, 19.1%, 15.1%, and 9.8% among children with strabismus, amblyopia, significant anisometropia, hyperopia, and astigmatism, respectively. Children without prior comprehensive eye examinations were more likely to have undetected amblyopia or strabismus than those with comprehensive eye examination history (ps<0.001). The prevalence of comprehensive eye examinations was higher among older children. Prevalence varied by race/ethnicity, with 8.1%, 7.9%, 6.3%, and 4.9% of non-Hispanic White, Asian American, African American, and Hispanic children having had prior comprehensive eye examinations, respectively; however, the differences did not remain after adjusting for other associated factors. Older age, a primary caregiver with a college/university degree or higher, having vision insurance, gestational age <33 weeks, neurodevelopmental disorder diagnosis, strabismus, and ocular disease history were all statistically significantly associated with a relatively higher prevalence of comprehensive eye examinations in multivariable analyses. Conclusions: Comprehensive eye examinations were uncommon among preschool children, including those with treatable vision disorders. Interventions, such as parent education and vision insurance, are needed to imaprove comprehensive eye examination access and utilization for at-risk preschool children.
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PURPOSE: Congenital nasolacrimal duct obstruction is a known risk factor for amblyopia and anisometropia. The purpose of this study was to investigate whether the rate of anisometropia and amblyopia development differed based on the age at CNLDO resolution in older infants. METHODS: This retrospective chart review at a single tertiary children's hospital from 2007 to 2017 compared early versus late spontaneous resolution (cutoff 12 months) and intervention (cutoff 15 months) groups presenting at ≥9 months of age, comparing visual outcomes, including anisometropia (≥1 D of sphere or cylinder) and amblyopia (≥2 levels difference in Teller acuity or optotype testing). Parents/guardians were contacted by phone for missing data on spontaneous resolution or intervention status. RESULTS: A total of 462 patients were included (152 early; 310 late group). The early group presented at a median age of 12.0 (interquartile range: 10.0, 13.0) months, while the late group presented at 21.0 (interquartile range: 15.0, 32.0) months. Unilateral disease occurred in 62% and 59%, respectively. Anisometropia was seen in (12/102) 12% of early versus (25/243) 10% of late patients (p = 0.686, 95% CI: -0.059, 0.088), and amblyopia in (4/131) 3% of early versus (14/286) 5% of late patients (p = 0.322, 95% CI: -0.061, 0.018). In patients presenting <24 months without undergoing surgery, spontaneous resolution occurred in 76% between 12 and 24 months (n = 41). CONCLUSIONS: Anisometropia and amblyopia rates did not significantly differ between early and delayed intervention for congenital nasolacrimal duct obstruction in this retrospective cohort presenting beyond 9 months of age to a children's hospital. This study found frequent late spontaneous resolution.
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Ambliopía , Anisometropía , Obstrucción del Conducto Lagrimal , Conducto Nasolagrimal , Lactante , Niño , Humanos , Anciano , Ambliopía/terapia , Obstrucción del Conducto Lagrimal/diagnóstico , Obstrucción del Conducto Lagrimal/terapia , Anisometropía/complicaciones , Estudios Retrospectivos , Conducto Nasolagrimal/anomalíasRESUMEN
PURPOSE: To evaluate the associations of sociodemographic factors with pediatric strabismus diagnosis and outcomes. DESIGN: Retrospective cohort study. PARTICIPANTS: American Academy of Ophthalmology IRIS® Registry (Intelligent Research in Sight) patients with strabismus diagnosed before the age of 10 years. METHODS: Multivariable regression models evaluated the associations of race and ethnicity, insurance, population density, and ophthalmologist ratio with age at strabismus diagnosis, diagnosis of amblyopia, residual amblyopia, and strabismus surgery. Survival analysis evaluated the same predictors of interest with the outcome of time to strabismus surgery. MAIN OUTCOME MEASURES: Age at strabismus diagnosis, rate of amblyopia and residual amblyopia, and rate of and time to strabismus surgery. RESULTS: The median age at diagnosis was 5 years (interquartile range, 3-7) for 106 723 children with esotropia (ET) and 54 454 children with exotropia (XT). Amblyopia diagnosis was more likely with Medicaid insurance than commercial insurance (odds ratio [OR], 1.05 for ET; 1.25 for XT; P < 0.01), as was residual amblyopia (OR, 1.70 for ET; 1.53 for XT; P < 0.01). For XT, Black children were more likely to develop residual amblyopia than White children (OR, 1.34; P < 0.01). Children with Medicaid were more likely to undergo surgery and did so sooner after diagnosis (hazard ratio [HR], 1.23 for ET; 1.21 for XT; P < 0.01) than those with commercial insurance. Compared with White children, Black, Hispanic, and Asian children were less likely to undergo ET surgery and received surgery later (all HRs < 0.87; P < 0.01), and Hispanic and Asian children were less likely to undergo XT surgery and received surgery later (all HRs < 0.85; P < 0.01). Increasing population density and clinician ratio were associated with lower HR for ET surgery (P < 0.01). CONCLUSIONS: Children with strabismus covered by Medicaid insurance had increased odds of amblyopia and underwent strabismus surgery sooner after diagnosis compared with children covered by commercial insurance. After adjusting for insurance status, Black, Hispanic, and Asian children were less likely to receive strabismus surgery with a longer delay between diagnosis and surgery compared with White children. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
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Ambliopía , Esotropía , Estrabismo , Niño , Humanos , Ambliopía/diagnóstico , Etnicidad , Estudios Retrospectivos , Densidad de Población , Agudeza Visual , Estrabismo/diagnóstico , Esotropía/diagnóstico , Esotropía/cirugía , Cobertura del SeguroRESUMEN
Current assessments of interocular interactions in amblyopia often use rivalrous stimuli, with conflicting stimuli in each eye, which does not reflect vision under typical circumstances. Here we measure interocular interactions in observers with amblyopia, strabismus with equal vision, and controls using a non-rivalrous stimulus. Observers used a joystick to continuously report the perceived binocular contrast of dichoptic grating stimuli, identical except that the stimulus was contrast-modulated independently in each eye over time. Consistent with previous studies, a model predicting the time-course of perceived contrast found increased amblyopic eye attenuation, and reduced contrast normalization of the fellow eye by the amblyopic eye, in amblyopic participants compared to controls. However, these suppressive interocular effects were weaker than those found in previous studies, suggesting that rivalrous stimuli may overestimate the effects of amblyopia on interocular interactions during naturalistic viewing conditions.
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Ambliopía , Fragilidad , Estrabismo , Humanos , Visión Binocular , Umbral SensorialRESUMEN
Purpose: The purpose of this study was to create multivariate models predicting early referral-warranted retinopathy of prematurity (ROP) using non-contact handheld spectral-domain optical coherence tomography (OCT) and demographic data. Methods: Between July 2015 and February 2018, infants ≤1500 grams birth weight or ≤30 weeks gestational age from 2 academic neonatal intensive care units were eligible for this study. Infants were excluded if they were too unstable to participate in ophthalmologic examination (2), had inadequate image quality (20), or received prior ROP treatment (2). Multivariate models were created using demographic variables and imaging findings to identify early referral-warranted ROP (referral-warranted ROP and/or pre-plus disease) by routine indirect ophthalmoscopy. Results: A total of 167 imaging sessions of 71 infants (45% male infants, gestational age 28.2+/-2.8 weeks, and birth weight 995.6+/-292.0 grams) were included. Twelve of 71 infants (17%) developed early referral-warranted ROP. The area under the receiver operating characteristic curve (AUC) was 0.94 for the generalized linear mixed model (sensitivity = 95.5% and specificity = 80.7%) and 0.83 for the machine learning model (sensitivity = 91.7% and specificity = 77.8%). The strongest variables in both models were birth weight, image-based Vitreous Opacity Ratio (an estimate of opacity density), vessel elevation, and hyporeflective vessels. A model using only birth weight and gestational age yielded an AUC of 0.68 (sensitivity = 77.3% and specificity = 63.4%), and a model using only imaging biomarkers yielded 0.88 (sensitivity = 81.8% and specificity = 84.8%). Conclusions: A generalized linear mixed model containing handheld OCT biomarkers can identify early referral-warranted ROP. Machine learning produced a less optimal model. Translational Relevance: With further validation, this work may lead to a better-tolerated ROP screening tool.
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Retinopatía de la Prematuridad , Lactante , Recién Nacido , Masculino , Humanos , Femenino , Retinopatía de la Prematuridad/diagnóstico por imagen , Tomografía de Coherencia Óptica , Peso al Nacer , Aprendizaje Automático , OftalmoscopíaRESUMEN
Purpose: To develop a semi-automated method of measuring foveal maturity using investigational handheld swept source-optical coherence tomography (SS-OCT). Methods: In this prospective, observational study, full-term newborns and preterm infants undergoing routine retinopathy of prematurity screening were imaged. Semi-automated analysis measured foveal angle and chorioretinal thicknesses at the central fovea and average two-sided parafovea by three-grader consensus, correlating with OCT features and demographics. Results: One hundred ninety-four imaging sessions from 70 infants were included (47.8% girls, 37.6 ± 3.4 weeks postmenstrual age, 26 preterm infants with birth weight 1057 ± 325.0, gestational age 29.0 ± 3.0 weeks). Foveal angle (96.1 ± 22.0 degrees) steepened with increasing birth weight (P = 0.003), decreasing inner retinal layer thickness, and increasing gestational age, postmenstrual age, and foveal and parafoveal choroidal thickness (all P < 0.001). Inner retinal fovea/parafovea ratio (0.4 ± 0.2) correlated with increasing inner foveal layers, decreasing postmenstrual age, gestational age, and birth weight (all P < 0.001). Outer retinal F/P ratio (0.7 ± 0.2) correlated with ellipsoid zone presence (P < 0.001), increased gestational age (P = 0.002), and birth weight (P = 0.003). Foveal (447.8 ± 120.6 microns) and parafoveal (420.9 ± 109.2) choroidal thicknesses correlated with foveal ellipsoid zone presence (P = 0.007 and P = 0.01, respectively), postmenstrual age, birth weight, gestational age, and decreasing inner retinal layers (all P < 0.001). Conclusions: Foveal development is dynamic and partially observed through semi-automated analysis of handheld SS-OCT imaging. Translational Relevance: Semi-automated analysis of SS-OCT images can identify measures of foveal maturity.
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Recien Nacido Prematuro , Tomografía de Coherencia Óptica , Recién Nacido , Lactante , Femenino , Humanos , Adulto , Masculino , Peso al Nacer , Estudios Prospectivos , Fóvea Central/diagnóstico por imagenRESUMEN
PURPOSE: Individuals with different types of intermittent exotropia (IXT) may use neurally coupled accommodation and vergence responses differently from those without exotropia to achieve eye alignment. This study examined the relationship between simultaneously recorded accommodation and vergence responses in children and young adults with a range of types of IXT while aligned and deviated. METHODS: Responses of 29 participants with IXT (4-31 years) and 24 age-matched controls were recorded using simultaneous eye-tracking and eccentric photorefraction while they watched a movie in binocular or monocular viewing at varying viewing distances. Gradient response AC/A ratios and fusional vergence ranges were also assessed. Eight participants had divergence or pseudo-divergence excess type IXT, 5 had convergence insufficiency and 16 had basic IXT. RESULTS: Control and IXT participants accommodated similarly both in monocular and binocular-aligned conditions to visual targets at 80 and 33 cm. When deviated in binocular viewing, most participants with IXT exhibited changes in accommodation <0.5D relative to alignment. Gradient response AC/A ratios were similar for control [0.56 MA/D (IQR: 0.51 MA/D)] and IXT participants [0.42 MA/D (0.54 MA/D); p = 0.60]. IXT participants showed larger vergence to accommodation ratios with changes from distance to near fixation [1.19 MA/D (1.45 MA/D)] than control participants [0.78 MA/D (0.60 MA/D); p = 0.02], especially among IXT participants with divergence or pseudo-divergence excess. Participants with IXT exhibited typical fusional divergence ranges beyond their dissociated position [8.86 Δ (7.10 Δ)] and typical fusional convergence ranges from alignment [18 Δ (15.75 Δ)]. CONCLUSIONS: This study suggests that control of IXT is typically neither driven by accommodative convergence alone nor associated with over-accommodation secondary to fusional convergence efforts. These simultaneous measurements confirmed that proximal vergence contributed significantly to IXT control, particularly for divergence or pseudo-divergence excess type IXT. For IXT participants in this study, achieving eye alignment did not conflict with having clear vision.
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Exotropía , Estrabismo , Niño , Adulto Joven , Humanos , Visión Binocular/fisiología , Convergencia Ocular , Acomodación Ocular , Enfermedad CrónicaRESUMEN
Occlusion therapy has a long history as the gold standard treatment for amblyopia. Over the past two decades, large multicenter randomized controlled trials and objective dose-monitoring studies have characterized the effects of refractive correction, patching, and atropine penalization, providing insights into the impact of factors such as age and treatment dose. More recent approaches, whose development has been accelerated by advances in technology, are designed to provide different stimulation to the amblyopic eye and the fellow eye. This review explores a variety of such dichoptic approaches, categorized according to whether they primarily feature requisite use of the amblyopic eye in the face of fellow-eye masking, integration of visual information from both eyes, or reduction of stimulus salience in the fellow eye. It is still unclear whether dichoptic treatments are superior to traditional, low-cost treatment methods or whether their therapeutic mechanisms are fundamentally different from those of established treatments.
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Ambliopía , Ambliopía/terapia , Atropina/uso terapéutico , Ojo , Humanos , Estudios Multicéntricos como Asunto , Visión Binocular/fisiología , Agudeza VisualRESUMEN
PURPOSE: To compare vitreous opacity density in infants born at term and in infants born prematurely using an investigational handheld swept-source optical coherence tomography (SS-OCT). METHODS: Infants born at term underwent imaging once between 12 and 48 hours after birth; infants born prematurely were imaged at each routine retinopathy of prematurity (ROP) examination. Three masked, trained graders analyzed images. Semiautomated methods were used to quantify vitreous opacity density, which was correlated with ROP severity based on indirect ophthalmoscopy, other SS-OCT findings, and medical comorbidities. RESULTS: Between April 2018 and June 2019, 251 SS-OCT imaging sessions were performed on 78 infants (49% female; 36% preterm, with mean birth weight of 1018 ± 338 g and gestational age of 28.6 ± 3.2 weeks). All SS-OCT sessions produced images of adequate quality. Punctate vitreous opacities were present in 25 of 28 term infants (89%) and 41 of 50 premature infants (82%). Dice coefficient and F1 scores for intergrader agreement were 0.99 ± 0.03 and 0.77 ± 0.31, respectively. Vitreous opacity density was 0.118 ± 0.187 in prematurely born infants and 0.031 ± 0.118 in infants born at term (P = 0.009). In the former, vitreous opacity density was associated with ROP zone (P = 0.044) and stage (P = 0.031), intraventricular hemorrhage (P = 0.028), subchorionic hemorrhage (P = 0.026), and African American race (P = 0.023). In the latter, vitreous opacity density was associated with maternal diabetes (P = 0.049). CONCLUSIONS: Our investigational handheld SS-OCT achieved high-quality vitreoretinal images. In our study cohort, punctate vitreous opacities were a frequent finding in infants born at term and those born prematurely, with increased density in those born prematurely, particularly those with severe ROP.
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Retinopatía de la Prematuridad , Tomografía de Coherencia Óptica , Femenino , Edad Gestacional , Humanos , Lactante , Recién Nacido , Recien Nacido Prematuro , Masculino , Oftalmoscopía/métodos , Retinopatía de la Prematuridad/diagnóstico , Tomografía de Coherencia Óptica/métodos , Cuerpo Vítreo/diagnóstico por imagenRESUMEN
A previously healthy 8-month-old female infant presenting with lethargy and bilateral eye redness and cloudiness had bilateral hypopyon uveitis, which persisted despite topical steroids. Cytology of the anterior chamber and cerebrospinal fluid and flow cytometry of cerebrospinal fluid revealed malignant cells consistent with acute monocytic leukemia. Bone marrow aspirates and biopsies showed no evidence of disease. She was treated with systemic and intrathecal chemotherapy, with subsequent remission and resolution of pseudo-hypopyon. Anterior chamber involvement is a rare presentation of acute myeloid leukemia and may indicate concurrent central nervous system involvement. This has important therapeutic implications, because additional treatment modalities such as intrathecal chemotherapy, local chemotherapy, and ocular radiation may be required to overcome the "pharmacologic sanctuary" created by the blood-ocular barrier. [J Pediatr Ophthalmol Strabismus. 2021;58(5):e30-e33.].
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Leucemia Monocítica Aguda , Leucemia Mieloide Aguda , Uveítis , Cámara Anterior , Niño , Femenino , Humanos , Lactante , Leucemia Monocítica Aguda/diagnóstico , Leucemia Mieloide Aguda/complicaciones , Leucemia Mieloide Aguda/diagnóstico , Leucemia Mieloide Aguda/tratamiento farmacológico , SupuraciónRESUMEN
Purpose: Children with cerebral visual impairment (CVI) often have abnormal visual orienting behaviors due to impaired or damaged visual cortex. Alternatively, visual-cortical function is intact but visual information is not transformed downstream into an appropriate oculomotor output (visuomotor dysfunction). We examined visual, anatomic, and oculomotor assessments to distinguish visuomotor dysfunction from CVI associated with severely reduced visual-cortical response. Methods: We reviewed the medical records from children with CVI having abnormal visual orienting behaviors, normal ocular examinations, and born near term. Relevant data were visual evoked potentials (VEPs), Teller card acuity, eye movements recorded by video-oculography (VOG), and neuroimaging (magnetic resonance imaging [MRI]) including diffusion tensor imaging (DTI) tractography. Results: Thirty subjects had visuomotor dysfunction based on a normal VEP; of these 33% had a normal MRI and 67% had white matter abnormalities associated with metabolic disease and/or decreased volume of brain parenchyma. VOG recordings showed smooth pursuit gains were uniformly reduced and saccades were dysmetric but followed the main sequence. Ten subjects had severe CVI based on VEPs at noise levels; visual acuities and MRI findings overlapped those of the visuomotor dysfunction group. Developmental delay, seizures, microcephaly, and hypotonia were common across all groups. All subjects with an abnormal conventional MRI had abnormal metrics on DTI tractography from the occipital lobe. Conclusions: A subset of patients with CVI have abnormal visual orienting behaviors despite a normal VEP (visuomotor dysfunction). A majority have abnormal white matter metrics on tractography suggesting a downstream defect in sensorimotor transformation. Clinically, visuomotor dysfunction is indistinguishable from severe CVI.
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Ceguera Cortical/fisiopatología , Potenciales Evocados Visuales/fisiología , Corteza Visual/fisiopatología , Sustancia Blanca/patología , Ceguera Cortical/diagnóstico por imagen , Preescolar , Femenino , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Seguimiento Ocular Uniforme , Movimientos Sacádicos/fisiología , Agudeza Visual/fisiología , Corteza Visual/diagnóstico por imagen , Sustancia Blanca/diagnóstico por imagenRESUMEN
PURPOSE: To describe dome-shaped macula and associated clinical findings in premature infants. METHODS: This prospective, observational cohort study included a consecutive sample of premature infants screened for retinopathy of prematurity (ROP) with 9-month follow-up. Handheld spectral domain optical coherence tomography (SD-OCT) was performed at the time of ROP screening. Images were assessed for dome-shaped macula, cystoid macular edema, epiretinal membrane, vitreous bands, and punctate hyperreflective vitreous opacities. Dome height measurements were performed in a subset of images. Teller visual acuity and cycloplegic refraction were performed at an adjusted age of 8-10 months. RESULTS: Of 37 infants (74 eyes; 49% male; mean gestational age 27.8 ± 3.2 weeks; mean birth weight 949 ± 284 g), 24/37 (65%) demonstrated dome-shaped macula in at least one eye (13 both eyes, 5 right eye only, and 6 left eye only). Of the 74 eyes, 26 (35%) could be reliably measured, with a mean dome height of 139.0 ± 72.3 µm (range, 54-369 µm). Presence of dome-shaped macula was associated with a diagnosis of ROP (P = 0.02; OR, 3.03; 95% CI, 1.18-7.82) and pre-plus or plus disease (P = 0.02; OR, 4.20; 95% CI, 1.05-16.78). Infants with dome-shaped macula had lower birth weight compared with those without (877 vs 1081 g; P = 0.04). No associations with other demographics, OCT findings, and 9-month refractive outcomes were found. CONCLUSIONS: Dome-shaped macula was frequently identified by handheld SD-OCT in premature infants, especially those with lower birth weight and severe ROP. The long-term clinical significance of this finding is unknown.
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Mácula Lútea , Retinopatía de la Prematuridad , Femenino , Humanos , Lactante , Recién Nacido , Recien Nacido Prematuro , Mácula Lútea/diagnóstico por imagen , Masculino , Estudios Prospectivos , Retinopatía de la Prematuridad/diagnóstico por imagen , Tomografía de Coherencia ÓpticaRESUMEN
PURPOSE: To investigate visual cortical responses in children with infantile nystagmus syndrome (INS) and the potential contribution of foveation periods. METHODS: The medical records of children with INS who had visual evoked potential (VEP) recordings to reversing checkerboards and onset of horizontal gratings were reviewed retrospectively. VEP recordings underwent objective selective averaging for extraction of brief periods having consistent amplitude and timing with the stimulus presentation. VEP amplitude, latency, and signal-to-noise ratios (SNR) were compared to results from published age-matched controls under the same conditions. Relative foveation in INS subjects was determined from the proportion of time a video-oculography recording met eye position and velocity criteria. RESULTS: A total of 26 children met inclusion criteria. Selective averaging increased VEP amplitude and SNR in INS by 270%-420% compared to standard averaging (P < 0.0001). The INS change in VEP response was greater for reversing checkerboard stimulation than horizontal-grating onset and was significantly greater than that in controls (P < 0.001). Latency was not changed by selective averaging. Relative foveation was correlated with increasing VEP amplitude (P = 0.02) and number of trials chosen for selective averaging (P < 0.01). After selective averaging, relative foveation correlated with VEP amplitude to reversing checkerboards only (P = 0.007). CONCLUSIONS: Nystagmus likely causes a reduced visual cortical response in children with INS. A significantly larger response can be extracted from brief periods during nystagmus eye movements, supporting the hypothesis that the INS visual system generates a larger cortical signal during brief foveation periods.
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Nistagmo Patológico , Vías Visuales , Niño , Potenciales Evocados Visuales , Humanos , Estudios Retrospectivos , Agudeza VisualRESUMEN
BACKGROUND: Few cases of exudative retinal detachments have been reported in the literature after laser treatment for retinopathy of prematurity, and none of the cases include optical coherence tomography images. METHODS: Case report. RESULTS: A 469-g birth weight, 25-week gestational age baby girl at 35-week postmenstrual age received a retinal laser (1,724 spots in the right eye and 1,287 spots in the left eye) for bilateral Stage 3 Zone II plus disease retinopathy of prematurity. The patient developed a large macular exudative retinal detachment seen in the right eye at the first follow-up, 5 days after the laser. Serial handheld optical coherence tomography demonstrated resolution of retinal detachment and intraretinal fluid over the course of 4 weeks with only topical tobramycin/dexamethasone ophthalmic ointment 3 to 4 times daily for 2 weeks. The patient was left with a residual subretinal scar and outer retinal loss on optical coherence tomography, with a later appearance of a dragged macula on funduscopic examination noted at 52-week postmenstrual age. It is unclear whether systemic steroid therapy, intravitreal bevacizumab, or surgery would hasten resolution of exudative retinal detachment after the retinopathy of prematurity laser and avoid photoreceptor damage seen on optical coherence tomography in this case. CONCLUSION: This case suggests that post-retinopathy of prematurity laser exudative retinal detachments can resolve without aggressive intervention, but may cause permanent retinal sequelae.
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Coagulación con Láser/efectos adversos , Desprendimiento de Retina/diagnóstico por imagen , Desprendimiento de Retina/etiología , Retinopatía de la Prematuridad/cirugía , Exudados y Transudados , Femenino , Edad Gestacional , Humanos , Recien Nacido con Peso al Nacer Extremadamente Bajo , Recién Nacido , Desprendimiento de Retina/fisiopatología , Líquido Subretiniano , Tomografía de Coherencia ÓpticaRESUMEN
BACKGROUND: CTNNB1 (MIM 116806) encodes beta-catenin, an adherens junction protein that supports the integrity between layers of epithelial tissue and mediates intercellular signaling. Recently, various heterozygous germline variants in CTNNB1 have been associated with human disease, including neurodevelopmental disorder with spastic diplegia and visual defects (MIM 615075) as well as isolated familial exudative vitreoretinopathy without developmental delays or other organ system involvement (MIM 617572). From over 40 previously reported patients with CTNNB1-related neurodevelopmental disorder, many have had ocular anomalies including strabismus, hyperopia, and astigmatism. More recently, multiple reports indicate that these abnormalities are associated with the presence of vitreoretinopathy. METHODS: We gathered a cohort of three patients with CTNNB1-related neurodevelopmental disorder, recruited from both our own clinic and referred from outside providers. We then searched for a clinical database comprised of over 12,000 exome sequencing studies to identify and recruit four additional patients. RESULTS: Here, we report seven new cases of CTNNB1-related neurodevelopmental disorder, all harboring de novo variants, six of which were previously unreported. All patients but one presented with a spectrum of ocular abnormalities and one patient, who was found to carry a missense variant in CTNNB1, had notable vitreoretinopathy. CONCLUSIONS: Our findings suggest ophthalmologic screening should be performed in all patients with CTNNB1 variants.