RESUMEN
Optic disc pits (ODP) are an uncommon congenital abnormality. Patients remain asymptomatic unless they develop maculopathy. The use of optic coherence tomography has critical benefits in the follow-up of patients who are at the amblyogenic age. The aim of this study is to present a case of double ODP in the right eye and single ODP in the left eye in a partially accommodative esotropia patient followed for 21 years. To our knowledge, multiple ODP has never been described in a patient with partially accommodative esotropia.
Asunto(s)
Electrorretinografía/métodos , Anomalías del Ojo/diagnóstico , Predicción , Disco Óptico/anomalías , Enfermedades del Nervio Óptico/congénito , Tomografía de Coherencia Óptica/métodos , Adulto , Femenino , Estudios de Seguimiento , Humanos , Enfermedades del Nervio Óptico/diagnóstico , Agudeza VisualRESUMEN
PURPOSE: To compare the optic disks of children and adults with megalopapilla using optical coherence tomography (OCT). SUBJECTS AND METHODS: We conducted a case-control study of subjects with megalopapilla and normal sized disks seen between February 2013 and July 2015 at the Hospital da Luz, Lisbon. All subjects and controls were imaged with spectral domain OCT, and optic nerve head (ONH) parameters were evaluated. The main outcome measures were rim area, cup:disk ratio, and cup volume. RESULTS: A total of 168 eyes of 168 subjects were included: 78 with megalopapilla (39 children/39 adults) and 90 (45/45) with normal sized disks. For the same ONH area, children had a higher rim area (P = 0.000), a smaller cup:disk ratio (P = 0.001), and a smaller cup volume (P = 0.001) than adults. For the same age group, megalopapilla had a larger cup:disk ratio (P = 0.000) and a larger cup volume (P = 0.000) than normal-sized disks. CONCLUSIONS: In this study cohort, compared to adults with the same disk size, children (with megalopapilla or normal-sized disks) had a larger rim area and smaller cup. These findings suggest that enlargement of the cup of the optic disk and reduction of the rim area can occur through life.
Asunto(s)
Envejecimiento , Presión Intraocular/fisiología , Disco Óptico/anomalías , Enfermedades del Nervio Óptico/diagnóstico , Células Ganglionares de la Retina/patología , Tomografía de Coherencia Óptica/métodos , Campos Visuales/fisiología , Adolescente , Adulto , Niño , Femenino , Humanos , Masculino , Persona de Mediana Edad , Disco Óptico/diagnóstico por imagen , Enfermedades del Nervio Óptico/congénito , Estudios Retrospectivos , Adulto JovenRESUMEN
PURPOSE: To describe an unusual case of polypoidal choroidal vasculopathy secondary to morning glory syndrome successfully treated with three aflibercept intravitreal injections. METHODS: Case report. RESULTS: A 68-year-old white man presented with a 2-month history of diminished vision of his left eye. Fundus examination showed a morning glory syndrome disk anomaly with some perimacular subretinal hemorrhages and lipid depositions. Fundus autofluorescence, fluorescein and green indocyanine angiography, spectral domain optical coherence tomography, and optical coherence tomography angiography were performed and confirmed the presence of a juxtapapillary polypoidal choroidal vasculopathy with intraretinal and subretinal fluid. Patient underwent 3 monthly intravitreal injections of aflibercept and at 4-month follow-up visit, multimodal imaging findings did not show any kind of neovascular lesion activity. CONCLUSION: Polypoidal choroidal vasculopathy can occur in morning glory syndrome and it can be successfully treated with anti-vascular endothelial growth factor intravitreal injections of aflibercept.
Asunto(s)
Enfermedades de la Coroides/tratamiento farmacológico , Coroides/irrigación sanguínea , Disco Óptico/anomalías , Enfermedades del Nervio Óptico/congénito , Pólipos/tratamiento farmacológico , Receptores de Factores de Crecimiento Endotelial Vascular/administración & dosificación , Proteínas Recombinantes de Fusión/administración & dosificación , Agudeza Visual , Anciano , Inhibidores de la Angiogénesis/administración & dosificación , Enfermedades de la Coroides/diagnóstico , Enfermedades de la Coroides/etiología , Angiografía con Fluoresceína , Fondo de Ojo , Humanos , Inyecciones Intravítreas , Masculino , Enfermedades del Nervio Óptico/complicaciones , Enfermedades del Nervio Óptico/diagnóstico , Pólipos/diagnóstico , Pólipos/etiología , Síndrome , Tomografía de Coherencia Óptica , Factor A de Crecimiento Endotelial Vascular/antagonistas & inhibidoresRESUMEN
Optic nerve hypoplasia (ONH) is a congenital optic nerve abnormality caused by underdevelopment of retinal ganglion cells (RGCs). Despite being a rare disease, ONH is the most common optic disk anomaly in ophthalmological practice. So far, mutations in several genes have been identified as causative; however, many cases of ONH remain without a molecular explanation. The early transcription factor atonal basic-helix-loop-helix (bHLH) transcription factor 7 (ATOH7) is expressed in retinal progenitor cells and has a crucial role in RGC development. Previous studies have identified several mutations in the ATOH7 locus in cases of eye developmental diseases such as non-syndromic congenital retinal non-attachment and persistent hyperplasia of the primary vitreous. Here we present two siblings with a phenotype predominated by bilateral ONH, with additional features of foveal hypoplasia and distinct vascular abnormalities, where whole-exome sequencing identified two compound heterozygous missense mutations affecting a conserved amino acid residue within the bHLH domain of ATOH7 (NM_145178.3:c.175G>A; p.(Ala59Thr) and c.176C>T; p.(Ala59Val)). ATOH7 expression constructs with patient single nucleotide variants were cloned for functional characterization. Protein analyses revealed decreased protein amounts and significantly enhanced degradation in the presence of E47, a putative bHLH dimerization partner. Protein interaction assays revealed decreased heterodimerization and DNA-binding of ATOH7 variants, resulting in total loss of transcriptional activation of luciferase reporter gene expression. These findings strongly support pathogenicity of the two ATOH7 mutations, one of which is novel. Additionally, this report highlights the possible impact of altered ATOH7 dimerization on protein stability and function.
Asunto(s)
Factores de Transcripción con Motivo Hélice-Asa-Hélice Básico/metabolismo , Enfermedades del Nervio Óptico/congénito , Hipoplasia del Nervio Óptico/metabolismo , Hipoplasia del Nervio Óptico/patología , Adolescente , Factores de Transcripción con Motivo Hélice-Asa-Hélice Básico/genética , Niño , Femenino , Pruebas Genéticas , Humanos , Masculino , Persona de Mediana Edad , Mutación/genética , Mutación Missense/genética , Enfermedades del Nervio Óptico/genética , Enfermedades del Nervio Óptico/metabolismo , Enfermedades del Nervio Óptico/patología , Hipoplasia del Nervio Óptico/genética , Linaje , Células Ganglionares de la Retina/metabolismoRESUMEN
PURPOSE: To investigate the natural history of optic disc pit maculopathy and explore the associations between demographic, anatomic, and functional characteristics. DESIGN: Retrospective, comparative case series. METHODS: This was a single-center medical record review of previously untreated optic disc pit maculopathy. Baseline data of visual function, demographics, and pit physiognomy were collected, and further subgroup analysis was undertaken on patients with long-term follow-up, according to whether they were monitored or received surgical intervention. LogMAR visual acuity was the primary outcome measure, and anatomic characteristics were reported where available. RESULTS: Eighty-seven patients were identified with a new presentation of optic disc pit maculopathy. No demographic or pit features were correlated with vision at baseline. In 51 patients with available optical coherence tomography data, only the presence of subretinal fluid at baseline was associated with poorer visual acuity (P < .001). Fifty-two patients who were monitored without treatment had available long-term follow-up data. The mean change in visual acuity in this group was 0.01, with 77% maintaining visual acuity ≤0.30. Twenty-seven patients underwent surgery and showed significant postoperative improvement in vision (P < .001), with 59% achieving an acuity ≤0.30. Duration of postoperative follow-up was associated with better visual acuity (P = .007). CONCLUSION: Many patients with optic disc pit maculopathy maintain good long-term visual acuity and may demonstrate resolution of subretinal fluid in the absence of surgical intervention. There may be evidence to support delaying surgical treatment until visual deterioration is observed because of the potential stability or spontaneous improvement of the condition, the high rate of reoperation, and the long-term positive outcomes of deferred intervention.
Asunto(s)
Mácula Lútea/patología , Degeneración Macular/etiología , Disco Óptico/anomalías , Enfermedades del Nervio Óptico/complicaciones , Tomografía de Coherencia Óptica/métodos , Agudeza Visual , Adulto , Femenino , Estudios de Seguimiento , Humanos , Degeneración Macular/diagnóstico , Degeneración Macular/fisiopatología , Masculino , Disco Óptico/patología , Enfermedades del Nervio Óptico/congénito , Enfermedades del Nervio Óptico/diagnóstico , Pronóstico , Estudios RetrospectivosAsunto(s)
Angiografía con Fluoresceína/métodos , Imagen Multimodal , Disco Óptico/anomalías , Enfermedades del Nervio Óptico/diagnóstico , Desprendimiento de Retina/diagnóstico , Tomografía de Coherencia Óptica/métodos , Agudeza Visual , Adolescente , Femenino , Fondo de Ojo , Humanos , Disco Óptico/diagnóstico por imagen , Enfermedades del Nervio Óptico/complicaciones , Enfermedades del Nervio Óptico/congénito , Retina/diagnóstico por imagen , Desprendimiento de Retina/etiología , SíndromeRESUMEN
PURPOSE: To evaluate retinal nerve fiber layer (RNFL) thickness using spectral domain optical coherence tomography (SD-OCT) in a population of children diagnosed with primary congenital glaucoma (PCG). METHODS: In this cross-sectional study, 59 eyes of 59 children diagnosed with PCG and 87 eyes of 87 healthy children were evaluated by SD-OCT to measure the RNFL. The global average peripapillary RNFL thickness and sectional RNFL thickness were evaluated in both groups. Differences in global average and sectional thickness were analyzed. RESULTS: Mean age in the PCG group was 9.61 ± 3.23 years; in the control group, 8.47 ± 2.99 years (P = 0.0516). There were statistically significant differences (P < 0.007) in all sectors between both groups. CONCLUSIONS: SD-OCT is a promising tool for evaluating the eyes of children diagnosed with PCG. Future research should examine the test-retest variability of SD-OCT parameters and their ability to diagnose progression in these children.
Asunto(s)
Glaucoma/congénito , Enfermedades del Nervio Óptico/congénito , Estudios de Casos y Controles , Niño , Estudios Transversales , Femenino , Glaucoma/patología , Humanos , Masculino , Fibras Nerviosas/patología , Nervio Óptico/diagnóstico por imagen , Nervio Óptico/patología , Enfermedades del Nervio Óptico/diagnóstico por imagen , Enfermedades del Nervio Óptico/patología , Tomografía de Coherencia Óptica/métodosRESUMEN
Morning glory syndrome is characterized by a congenital optic disc defect that resembles the eponymous flower. We present the MR imaging findings of 2 pediatric patients with morning glory disc anomaly and persisting embryonal infundibular recess, another rare malformative finding, a previously unreported association. Neuroradiologists should be aware of the possible presence of a persisting embryonal infundibular recess in patients with morning glory syndrome, to aid in the differential diagnosis including other pituitary malformations such as pituitary stalk duplication.
Asunto(s)
Disco Óptico/anomalías , Enfermedades del Nervio Óptico/congénito , Hipófisis/anomalías , Tercer Ventrículo/anomalías , Anomalías Múltiples/patología , Adolescente , Preescolar , Humanos , Masculino , Disco Óptico/diagnóstico por imagen , Enfermedades del Nervio Óptico/diagnóstico por imagen , Hipófisis/diagnóstico por imagen , Síndrome , Tercer Ventrículo/diagnóstico por imagenAsunto(s)
Enfermedades del Nervio Óptico/diagnóstico , Nervio Óptico/anomalías , Agudeza Visual , Vías Visuales/diagnóstico por imagen , Percepción Visual/fisiología , Niño , Humanos , Imagen por Resonancia Magnética , Masculino , Nervio Óptico/diagnóstico por imagen , Enfermedades del Nervio Óptico/congénito , Vías Visuales/fisiopatologíaRESUMEN
Resumo Nós descrevemos uma rara associação entre estafiloma peripapilar congênito e drusa de disco óptico em uma mulher de 47 anos de idade e visão normal.
Abstract We described a rare association between peripapillary staphyloma and optic disk drusen in a woman with 47 years old and normal vision.
Asunto(s)
Humanos , Femenino , Persona de Mediana Edad , Disco Óptico/anomalías , Drusas del Disco Óptico/etiología , Anomalías del Ojo/complicaciones , Informes de Casos , Angiografía con Fluoresceína , Agudeza Visual , Drusas del Disco Óptico/diagnóstico por imagen , Enfermedades del Nervio Óptico/complicaciones , Enfermedades del Nervio Óptico/congénito , Ultrasonografía , Pruebas del Campo VisualRESUMEN
In evaluating a 3-month-old boy with horizontal nystagmus, brain MRI revealed absence of the optic chiasm. The remainder of the brain was normal in appearance. Achiasma was confirmed with diffusion tensor imaging and best visualized with optimized probabilistic-based tractography.
Asunto(s)
Quiasma Óptico/anomalías , Enfermedades del Nervio Óptico/congénito , Agudeza Visual , Imagen de Difusión por Resonancia Magnética/métodos , Estudios de Seguimiento , Humanos , Lactante , Masculino , Quiasma Óptico/diagnóstico por imagen , Enfermedades del Nervio Óptico/diagnósticoRESUMEN
PURPOSE: To evaluate the clinical outcomes of vitrectomy with induction of posterior vitreous detachment for the treatment of optic disc pit maculopathy. METHODS: We retrospectively evaluated medical records and imaging studies of 11 consecutive patients with optic disc pit maculopathy who underwent vitrectomy at Sacco University Hospital, Milan, Italy, between October 2008 and December 2015. Induction of a posterior vitreous detachment (PVD) was the aim of our surgery. Intravitreal injection of ocriplasmin (Jetrea, Thrombogenics USA, Alcon/Novartis EU) was performed before surgery in three eyes of very young patients. Gas tamponade (sulfur hexafluoride (SF6) 20%) was used only in the first five cases. Main outcome measures were anatomic results as determined by optical coherence tomography and postoperative best-corrected visual acuity (BCVA). RESULTS: Before surgery, a macular detachment was present in 10 eyes and a lamellar hole of the outer retina was detected in 9 eyes. Intraoperatively, two iatrogenic paramacular holes developed in two patients during posterior hyaloid dissection. Time to PVD induction appeared to be greatly reduced in the three patients injected with ocriplasmin before surgery. Patients were followed up for a mean of 38 months (range, 18-84) after surgery. Postoperatively, one patient (9%) developed a retinal detachment that was repaired with one additional vitrectomy. Complete resolution of fluid in and under the fovea was achieved in 8 of the remaining 10 eyes (80%) without additional treatment. Reduction of the inner retinal fluid always preceded the decrease of outer retinal fluid, which in turn anticipated the absorption of macular detachment. The macular detachment resolved in a mean of 14 months after surgery. Postoperative BCVA (mean, 0.63) improved significantly compared with preoperative BCVA (mean, 0.27) (P = 0.005). Nine eyes (82%) had a postoperative BCVA of 0.5 or better. CONCLUSION: Vitrectomy with induction of PVD is a safe and successful therapeutic option for the treatment of optic disc pit maculopathy. The adjunct of ocriplasmin might facilitate the induction of PVD and reduce the risk of iatrogenic retinal holes.
Asunto(s)
Mácula Lútea/diagnóstico por imagen , Disco Óptico/anomalías , Enfermedades del Nervio Óptico/congénito , Enfermedades de la Retina/cirugía , Vitrectomía/métodos , Adolescente , Adulto , Anciano , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Disco Óptico/diagnóstico por imagen , Enfermedades del Nervio Óptico/diagnóstico , Enfermedades del Nervio Óptico/cirugía , Enfermedades de la Retina/diagnóstico , Estudios Retrospectivos , Tomografía de Coherencia Óptica , Agudeza Visual , Adulto JovenAsunto(s)
Anomalías del Ojo/diagnóstico , Disco Óptico/anomalías , Enfermedades del Nervio Óptico/congénito , Enfermedades del Nervio Óptico/diagnóstico , Adulto , Anomalías del Ojo/patología , Femenino , Fondo de Ojo , Humanos , Meteoroides , Disco Óptico/diagnóstico por imagen , Disco Óptico/patología , Enfermedades del Nervio Óptico/patologíaRESUMEN
AIM: Optic nerve hypoplasia (ONH) is a congenital ocular malformation that has been associated with neurodevelopmental disorders, but the prevalence in unilateral disease and less severe visual impairment is unknown. We studied intellectual disability and autism spectrum disorders (ASDs) in patients with ONH. METHODS: This was a population-based cross-sectional cohort study of 65 patients (33 female) with ONH below 20 years of age, living in Stockholm in December 2009, with data analysed in January 2016. Of these 35 were bilateral and 30 were unilateral. Neurodevelopmental disorders were diagnosed or confirmed by neurological assessments, the Five to Fifteen parent questionnaire and reviewing previous neuropsychological investigations or conducting neuropsychological tests. RESULTS: Bilateral ONH patients had lower mean full scale intelligence quotient scores than unilateral patients (84.4 and 99.4, respectively, p = 0.049). We assessed intellectual disability in 55 eligible patients, and it was more common in patients with bilateral ONH (18 of 32, 56%) than unilateral ONH (two of 23, 9%, p < 0.001). ASDs were diagnosed in seven of 42 (17%) patients. CONCLUSION: Children with bilateral ONH had a high risk of neurodevelopmental disorders, especially intellectual disability. The risk was lower in unilateral ONH, but the levels of neurodevelopmental disorders warrant screening of both groups.
Asunto(s)
Trastorno del Espectro Autista/epidemiología , Trastorno del Espectro Autista/etiología , Trastornos del Neurodesarrollo/epidemiología , Trastornos del Neurodesarrollo/etiología , Enfermedades del Nervio Óptico/congénito , Adolescente , Distribución por Edad , Trastorno del Espectro Autista/fisiopatología , Niño , Preescolar , Estudios Transversales , Femenino , Humanos , Lactante , Recién Nacido , Discapacidad Intelectual/epidemiología , Discapacidad Intelectual/etiología , Discapacidad Intelectual/fisiopatología , Masculino , Trastornos del Neurodesarrollo/fisiopatología , Pruebas Neuropsicológicas , Enfermedades del Nervio Óptico/complicaciones , Enfermedades del Nervio Óptico/diagnóstico , Prevalencia , Pronóstico , Estudios Retrospectivos , Medición de Riesgo , Índice de Severidad de la Enfermedad , Distribución por Sexo , Suecia/epidemiología , Población Urbana , Adulto JovenRESUMEN
BACKGROUND/AIMS: The risk factors for pituitary hormone dysfunction (PHD) in children with optic nerve hypoplasia (ONH) are not well understood. This study identified the type, timing, and predictors of PHD in children with ONH. METHODS: ONH patient charts were reviewed retrospectively. The incidence rate of PHD was calculated assuming a Poisson distribution. Predictors of PHD were identified through a multivariable Cox proportional hazards model. RESULTS: Among 144 subjects with ONH, 49.3% (n = 71) developed PHD over 614.7 person-years of follow-up. The incidence was 11.55 (95% confidence interval [CI]: 9.02-14.57/100 person-years). The median time to first PHD was 2.88 (interquartile range: 0.02-18.72) months. Eighty-two percent developed their first PHD by their 5th and 90% by their 10th birthday, and 89% within 5 years of ONH diagnosis. Prematurity (adjusted hazard ratio [aHR]: 0.33; 95% CI: 0.1-1.07), blindness (aHR: 1.72; 95% CI: 1.03-2.86), maternal substance abuse (aHR: 1.51; 95% CI: 0.91-2.48), abnormal posterior pituitary (aHR: 3.8; 95% CI: 2.01-7.18), and hypoplastic/absent anterior pituitary (aHR: 2.52; 95% CI: 1.29-4.91) were significant predictors of PHD. CONCLUSIONS: The clinical predictors of PHD included blindness, pituitary gland abnormalities, and maternal substance abuse. These predictors help clinical decision-making related to the need for and frequency of hormone testing in pediatric patients with ONH.
Asunto(s)
Enfermedades del Nervio Óptico/congénito , Enfermedades de la Hipófisis/epidemiología , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino , Enfermedades del Nervio Óptico/epidemiología , Enfermedades de la Hipófisis/etiologíaRESUMEN
PURPOSE: Optic nerve hypoplasia (ONH) is one of the leading causes of blindness among children. The purpose of this retrospective study is to determine the risk factors and association between brain MRI findings, pituitary abnormalities and endocrine disorders with the presence of ONH. METHODS: A retrospective review of patients seen at paediatric ophthalmology clinics from January 2006 to December 2016 at Children's Hospital and Medical Center and the University of Nebraska Medical Center was performed. All patients with a documented diagnosis of ONH or septo-optic dysplasia were identified. MRI and endocrinology results were analysed by masked examiners. RESULTS: Out of 77 patients, overall incidence of abnormal pituitary on MRI was 35.1% and the incidence of endocrine abnormalities was 37.7%. Of the 57 patients with bilateral ONH, 23 (40.4%) had an abnormal pituitary while 4 of the 20 patients (20.0%) with unilateral ONH had an abnormal pituitary on MRI. The sensitivity and specific of brain MRI as signs of endocrinopathy are 67.9% and 83.3%, respectively. CONCLUSION: This study has determined that abnormal MRI findings do not have the sensitivity to predict endocrinopathy, nor does a normal MRI rule out possible endocrine abnormalities. When patients with ONH present with normal neurological examinations, normal endocrine workup and normal developmental milestones, a MRI of the brain may be deferred until new indications arise. Regardless of the MRI status, children with ONH should have a comprehensive endocrine evaluation and continue to have routine endocrine follow-up.