RESUMO
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.
Assuntos
Eletrorretinografia/métodos , Anormalidades do Olho/diagnóstico , Previsões , Disco Óptico/anormalidades , Doenças do Nervo Óptico/congênito , Tomografia de Coerência Óptica/métodos , Adulto , Feminino , Seguimentos , Humanos , Doenças do Nervo Óptico/diagnóstico , Acuidade VisualRESUMO
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.
Assuntos
Envelhecimento , Pressão Intraocular/fisiologia , Disco Óptico/anormalidades , Doenças do Nervo Óptico/diagnóstico , Células Ganglionares da Retina/patologia , Tomografia de Coerência Óptica/métodos , Campos Visuais/fisiologia , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Disco Óptico/diagnóstico por imagem , Doenças do Nervo Óptico/congênito , Estudos Retrospectivos , Adulto JovemRESUMO
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.
Assuntos
Doenças da Coroide/tratamento farmacológico , Corioide/irrigação sanguínea , Disco Óptico/anormalidades , Doenças do Nervo Óptico/congênito , Pólipos/tratamento farmacológico , Receptores de Fatores de Crescimento do Endotélio Vascular/administração & dosagem , Proteínas Recombinantes de Fusão/administração & dosagem , Acuidade Visual , Idoso , Inibidores da Angiogênese/administração & dosagem , Doenças da Coroide/diagnóstico , Doenças da Coroide/etiologia , Angiofluoresceinografia , Fundo de Olho , Humanos , Injeções Intravítreas , Masculino , Doenças do Nervo Óptico/complicações , Doenças do Nervo Óptico/diagnóstico , Pólipos/diagnóstico , Pólipos/etiologia , Síndrome , Tomografia de Coerência Óptica , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidoresRESUMO
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.
Assuntos
Fatores de Transcrição Hélice-Alça-Hélice Básicos/metabolismo , Doenças do Nervo Óptico/congênito , Hipoplasia do Nervo Óptico/metabolismo , Hipoplasia do Nervo Óptico/patologia , Adolescente , Fatores de Transcrição Hélice-Alça-Hélice Básicos/genética , Criança , Feminino , Testes Genéticos , Humanos , Masculino , Pessoa de Meia-Idade , Mutação/genética , Mutação de Sentido Incorreto/genética , Doenças do Nervo Óptico/genética , Doenças do Nervo Óptico/metabolismo , Doenças do Nervo Óptico/patologia , Hipoplasia do Nervo Óptico/genética , Linhagem , Células Ganglionares da Retina/metabolismoRESUMO
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.
Assuntos
Macula Lutea/patologia , Degeneração Macular/etiologia , Disco Óptico/anormalidades , Doenças do Nervo Óptico/complicações , Tomografia de Coerência Óptica/métodos , Acuidade Visual , Adulto , Feminino , Seguimentos , Humanos , Degeneração Macular/diagnóstico , Degeneração Macular/fisiopatologia , Masculino , Disco Óptico/patologia , Doenças do Nervo Óptico/congênito , Doenças do Nervo Óptico/diagnóstico , Prognóstico , Estudos RetrospectivosAssuntos
Angiofluoresceinografia/métodos , Imagem Multimodal , Disco Óptico/anormalidades , Doenças do Nervo Óptico/diagnóstico , Descolamento Retiniano/diagnóstico , Tomografia de Coerência Óptica/métodos , Acuidade Visual , Adolescente , Feminino , Fundo de Olho , Humanos , Disco Óptico/diagnóstico por imagem , Doenças do Nervo Óptico/complicações , Doenças do Nervo Óptico/congênito , Retina/diagnóstico por imagem , Descolamento Retiniano/etiologia , SíndromeRESUMO
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.
Assuntos
Glaucoma/congênito , Doenças do Nervo Óptico/congênito , Estudos de Casos e Controles , Criança , Estudos Transversais , Feminino , Glaucoma/patologia , Humanos , Masculino , Fibras Nervosas/patologia , Nervo Óptico/diagnóstico por imagem , Nervo Óptico/patologia , Doenças do Nervo Óptico/diagnóstico por imagem , Doenças do Nervo Óptico/patologia , Tomografia de Coerência Óptica/métodosRESUMO
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.
Assuntos
Disco Óptico/anormalidades , Doenças do Nervo Óptico/congênito , Hipófise/anormalidades , Terceiro Ventrículo/anormalidades , Anormalidades Múltiplas/patologia , Adolescente , Pré-Escolar , Humanos , Masculino , Disco Óptico/diagnóstico por imagem , Doenças do Nervo Óptico/diagnóstico por imagem , Hipófise/diagnóstico por imagem , Síndrome , Terceiro Ventrículo/diagnóstico por imagemAssuntos
Doenças do Nervo Óptico/diagnóstico , Nervo Óptico/anormalidades , Acuidade Visual , Vias Visuais/diagnóstico por imagem , Percepção Visual/fisiologia , Criança , Humanos , Imageamento por Ressonância Magnética , Masculino , Nervo Óptico/diagnóstico por imagem , Doenças do Nervo Óptico/congênito , Vias Visuais/fisiopatologiaRESUMO
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.
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Disco Óptico/anormalidades , Drusas do Disco Óptico/etiologia , Anormalidades do Olho/complicações , Relatos de Casos , Angiofluoresceinografia , Acuidade Visual , Drusas do Disco Óptico/diagnóstico por imagem , Doenças do Nervo Óptico/complicações , Doenças do Nervo Óptico/congênito , Ultrassonografia , Testes de Campo VisualRESUMO
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.
Assuntos
Quiasma Óptico/anormalidades , Doenças do Nervo Óptico/congênito , Acuidade Visual , Imagem de Difusão por Ressonância Magnética/métodos , Seguimentos , Humanos , Lactente , Masculino , Quiasma Óptico/diagnóstico por imagem , Doenças do Nervo Óptico/diagnósticoRESUMO
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.
Assuntos
Macula Lutea/diagnóstico por imagem , Disco Óptico/anormalidades , Doenças do Nervo Óptico/congênito , Doenças Retinianas/cirurgia , Vitrectomia/métodos , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Disco Óptico/diagnóstico por imagem , Doenças do Nervo Óptico/diagnóstico , Doenças do Nervo Óptico/cirurgia , Doenças Retinianas/diagnóstico , Estudos Retrospectivos , Tomografia de Coerência Óptica , Acuidade Visual , Adulto JovemAssuntos
Anormalidades do Olho/diagnóstico , Disco Óptico/anormalidades , Doenças do Nervo Óptico/congênito , Doenças do Nervo Óptico/diagnóstico , Adulto , Anormalidades do Olho/patologia , Feminino , Fundo de Olho , Humanos , Meteoroides , Disco Óptico/diagnóstico por imagem , Disco Óptico/patologia , Doenças do Nervo Óptico/patologiaRESUMO
PURPOSE: To present a case of a patient with XXXXY syndrome, anomalous optic nerves, and dural ectasia in conjunction with macular detachment. METHODS: Case report. RESULTS: A 3-year-old boy with XXXXY chromosomal abnormality presented with bilateral maculopathy. On evaluation, he was found to have anomalous optic disks with serous detachment of the left eye. Magnetic resonance imaging of the brain revealed bilateral optic nerve dural ectasia without evidence of elevated intracranial pressure. CONCLUSION: XXXXY syndrome, like the related condition of Klinefelter syndrome, can manifest with ocular abnormalities. In the present case, the dural ectasia may have facilitated access of cerebrospinal fluid through anomalous optic nerves, resulting in neurosensory detachment.
Assuntos
Doenças do Sistema Nervoso Central/congênito , Dura-Máter/patologia , Macula Lutea/patologia , Disco Óptico/anormalidades , Doenças do Nervo Óptico/congênito , Descolamento Retiniano/etiologia , Transtornos dos Cromossomos Sexuais/genética , Anormalidades Múltiplas , Aneuploidia , Doenças do Sistema Nervoso Central/diagnóstico , Pré-Escolar , Cromossomos Humanos X/genética , Diagnóstico Diferencial , Dilatação Patológica , Angiofluoresceinografia , Fundo de Olho , Testes Genéticos , Humanos , Ventrículos Laterais/patologia , Masculino , Doenças do Nervo Óptico/diagnóstico , Descolamento Retiniano/diagnóstico , Aberrações dos Cromossomos Sexuais , Transtornos dos Cromossomos Sexuais/diagnóstico , Tomografia de Coerência ÓpticaRESUMO
PURPOSE: To report the results of vitrectomy with platelet-rich plasma (PRP) application and gas tamponade as a rescue therapy in previously vitrectomized eyes with optic disk pit (ODP) maculopathy. METHODS: Three patients with visual loss due to persistent or recurrent ODP maculopathy who had undergone previous vitrectomy were offered application of PRP. Platelet-rich plasma was obtained by centrifugation of a blood sample from each patient. Surgery consisted of vitrectomy and internal limiting membrane peeling if the membrane had not been already removed (in two eyes). After fluid/air exchange, three drops of PRP were applied on the ODP followed by 8% C3F8 tamponade. Immediately after surgery, the patient remained supine for 30 minutes and then kept a face-down position for 2 weeks. RESULTS: Optic disk pit maculopathy improved as soon as two weeks after surgery and resolved in all eyes between six and eight months after PRP application. Patients were followed up for three years, with no recurrences. Visual acuity remained stable in one eye and improved in two eyes. CONCLUSION: Vitrectomy with PRP application may be useful as a rescue therapy in patients with refractory ODP maculopathy. Platelet-rich plasma may act by promoting the closure of the communication between the vitreous and the intraretinal/subretinal space at the pit. This treatment may avoid potentially harmful maneuvers that have been used to treat ODP maculopathy.
Assuntos
Tamponamento Interno/métodos , Disco Óptico/anormalidades , Doenças do Nervo Óptico/cirurgia , Retina/patologia , Doenças Retinianas/etiologia , Tomografia de Coerência Óptica/métodos , Vitrectomia , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doenças do Nervo Óptico/complicações , Doenças do Nervo Óptico/congênito , Reoperação , Doenças Retinianas/diagnóstico , Doenças Retinianas/cirurgia , Acuidade Visual , Adulto JovemRESUMO
PURPOSE: Swept Source Optical Coherence Tomography validates lamina cribrosa anomaly in optic disk pit. METHOD: Observational case report. RESULTS: A 25-year-old African American male presented with decreased vision in right eye of 4 days duration. Best corrected visual acuity (BCVA) for distance in right eye was 20/200 and in left eye was 20/20. Dilated fundus examination of right eye showed serous macular detachment of entire posterior pole along with an optic pit on temporal margin of optic disk. En-face image of the optic disk on Swept source OCT (SS-OCT) confirmed defect in the lamina cribrosa in the right eye. CONCLUSION: Congenital optic disk pit a birth defect in lamina cribrosa is a rare, visually impairing disorder. Spectral domain optical coherence tomography (SD-OCT) scan showed neurosensory detachment, however, lamina cribrosa defects are not delineated with it. SS-OCT a recent advance in scanning technology allows superior resolution of optic disk and confirms the anomaly of lamina cribrosa.
Assuntos
Anormalidades do Olho , Disco Óptico/anormalidades , Doenças do Nervo Óptico/congênito , Tomografia de Coerência Óptica/métodos , Acuidade Visual , Adulto , Humanos , Masculino , Doenças do Nervo Óptico/diagnóstico , Reprodutibilidade dos TestesRESUMO
PURPOSE: To describe the occurrence of a congenital contractile peripapillary staphyloma in association with a rhegmatogenous retinal detachment. METHODS: The clinical course of a 17-year-old patient with a contractile peripapillary staphyloma and undergoing pars plana vitrectomy for repair of an associated retinal detachment was studied. RESULTS: The left eye showed a peripapillary staphyloma which during the ophthalmoscopical examination revealed contractile movements after the presentation of a light stimulus to either eye. The contraction of the peripapillary staphyloma was not correlated with a Valsalva maneuver, neck venous compression, forced lid closure, or respiratory movements. Because of a retinal detachment involving the inferior, nasal, and temporal retina, best-corrected visual acuity was 20/100. During pars plana vitrectomy under systemic anesthesia, the contractions of the peripapillary staphyloma subsided in the early phase of surgery, and reoccurred at approximately 80 minutes after the start of general anesthesia, when the posterior pole was touched with an aspiration syringe. CONCLUSION: The etiology of the movements of the congenital peripapillary staphyloma in our patient may include a misbalance between intraocular pressure and orbital cerebrospinal fluid pressure or contractions of extraocular muscles. The observations may give information about the physiology and pathophysiology of the optic nerve head.