RESUMO
We investigated the relationship between optic nerve (ON) size and visual acuity in children with optic nerve hypoplasia (ONH). The medical records of patients <19 years with ONH who underwent brain magnetic resonance imaging (MRI) and visual acuity assessment were reviewed. ON diameter at orbital and cisternal segments was assessed independently by two neuroradiologists and compared with visual acuity. ON diameter <1.7 mm represented a cutoff, below which was significantly associated with visual acuity of 20/200 or worse (P = 0.04) and above which was significantly associated with visual acuity of 20/40 or better (P = 0.004). ON diameter measured with MRI may provide an early prognostic indication of visual potential for children with ONH.
Assuntos
Imageamento por Ressonância Magnética , Hipoplasia do Nervo Óptico , Nervo Óptico , Acuidade Visual , Humanos , Imageamento por Ressonância Magnética/métodos , Nervo Óptico/diagnóstico por imagem , Nervo Óptico/anormalidades , Nervo Óptico/patologia , Acuidade Visual/fisiologia , Criança , Masculino , Feminino , Hipoplasia do Nervo Óptico/fisiopatologia , Hipoplasia do Nervo Óptico/diagnóstico por imagem , Pré-Escolar , Adolescente , Estudos Retrospectivos , Tamanho do Órgão , LactenteRESUMO
This study aimed to quantitatively assess the thickness of the peripapillary retinal nerve fiber layer (pRNFL) thickness, as well as the microvascular alterations in the macula and peripapillary regions, in optic nerve hypoplasia (ONH) patients compared to normal controls. This was achieved through the utilization of spectral-domain optical coherence tomography (SD-OCT) and optical coherence tomography angiography (OCTA), with a specific focus on elucidating the association between these structural alterations and visual acuity. We included a total of 17 eyes of 12 ONH patients, and 34 eyes of age-matched 34 healthy controls. The pRNFL thickness was quantified using SD-OCT, while OCTA facilitated the visualization and measurement of the microvascular structure images of the superficial retinal capillary plexus (SRCP), deep retinal capillary plexus (DRCP), and radial peripapillary capillary (RPC) segment in the macula and peripapillary area. pRNFL thickness was measured for eight sectors (superior, temporal, inferior, nasal, superotemporal, superonasal, inferotemporal, and inferonasal). SRCP, DRCP, and RPC were measured for four sectors (superior, temporal, inferior, and nasal). Age, gender, and spherical equivalent refractive errors were statistically adjusted for the analysis. Associations of structural parameters with visual acuity in ONH patients were analyzed using Spearman correlation analysis. pRNFL thickness was significantly thinner in ONH patients than in controls for all sectors. Vessel densities of temporal and nasal sectors in DRCP were significantly higher in ONH patients, but vessel densities of the inferior sector in RPC were significantly lower than those in controls. For all sectors, pRNFL thickness was strongly associated with visual acuity in ONH patients. ONH patients showed significant pRNFL thinning and microvascular alterations compared to controls, and pRNFL thickness was strongly associated with visual function. OCT and OCTA are useful tools for evaluating optic disc hypoplasia and its functional status.
Assuntos
Disco Óptico , Hipoplasia do Nervo Óptico , Humanos , Disco Óptico/irrigação sanguínea , Tomografia de Coerência Óptica/métodos , Acuidade Visual , Angiografia , Vasos Retinianos , AngiofluoresceinografiaRESUMO
BACKGROUND: Optic nerve hypoplasia (ONH), the leading congenital cause of permanent blindness, is characterized by a retinal ganglion cell (RGC) deficit at birth. Multifactorial developmental events are hypothesized to underlie ONH and its frequently associated neurologic and endocrine abnormalities; however, environmental influences are unclear and genetic underpinnings are unexplored. This work investigates the genetic contribution to ONH RGC production and gene expression using patient induced pluripotent stem cell (iPSC)-derived retinal organoids (ROs). MATERIALS AND METHODS: iPSCs produced from ONH patients and controls were differentiated to ROs. RGC genesis was assessed using immunofluorescence and flow cytometry. Flow-sorted BRN3+ cells were collected for RNA extraction for RNA-Sequencing. Differential gene expression was assessed using DESeq2 and edgeR. PANTHER was employed to identify statistically over-represented ontologies among the differentially expressed genes (DEGs). DEGs of high interest to ONH were distinguished by assessing function, mutational constraint, and prior identification in ONH, autism and neurodevelopmental disorder (NDD) studies. RESULTS: RGC genesis and survival were similar in ONH and control ROs. Differential expression of 70 genes was identified in both DESeq2 and edgeR analyses, representing a ~ 4-fold higher percentage of DEGs than in randomized study participants. DEGs showed trends towards over-representation of validated NDD genes and ONH exome variant genes. Among the DEGs, RAPGEF4 and DMD had the greatest number of disease-relevant features. CONCLUSIONS: ONH genetic background was not associated with impaired RGC genesis but was associated with DEGs exhibiting disease contribution potential. This constitutes some of the first evidence of a genetic contribution to ONH.
Assuntos
Células-Tronco Pluripotentes Induzidas , Hipoplasia do Nervo Óptico , Recém-Nascido , Humanos , Células Ganglionares da Retina , Hipoplasia do Nervo Óptico/genética , Espécies Reativas de Oxigênio , Expressão Gênica , RNA , Fatores de Troca do Nucleotídeo Guanina/genéticaRESUMO
Little is known about the diagnostic utility of three-dimensional neuroretinal rim thickness (3D-NRRT) for differentiating patients with superior segmental optic nerve hypoplasia (SSOH) from normal-tension glaucoma (NTG). Since SSOH is defined by characteristic optic nerve head features, investigation of diagnostic usefulness of 3D-NRRT is necessary. In this cross-sectional study, 49 SSOH eyes, 52 NTG eyes, and 41 normal eyes were enrolled. Retinal nerve fiber layer thickness (RNFLT) and 3D-NRRT values, as obtained in the right-eye orientation by optical coherence tomography (OCT), were recorded. On RNFLT clock-hour comparison, the 11-3 clock-hour sectors were significantly thinner for SSOH than for NTG (all P < 0.01). As for 3D-NRRT, whereas the 1 and 2 sectors were significantly thinner for SSOH (P < 0.001, P = 0.004), the 6-11 sectors were significantly thinner for NTG (all P < 0.01). The area under receiver operating characteristic (AUROC) curves of the superior and nasal quadrants of RNFLT (0.838, 0.729) were significantly greater than those of 3D-NRRT (0.518, 0.588; P < 0.001, P = 0.043). However, the AUROCs of the inferior and temporal quadrants were significantly greater for 3D-NRRT (0.728, 0.760) than for RNFLT (0.527, 0.550; P = 0.008, P = 0.019). The appropriate use of 3D-NRRT can be useful in differentiating SSOH from NTG.
Assuntos
Glaucoma de Baixa Tensão , Disco Óptico , Hipoplasia do Nervo Óptico , Humanos , Disco Óptico/diagnóstico por imagem , Disco Óptico/anormalidades , Estudos Transversais , Tomografia de Coerência Óptica/métodos , Glaucoma de Baixa Tensão/diagnóstico , Pressão IntraocularRESUMO
BACKGROUND: Septo-optic dysplasia (SOD) is a rare condition diagnosed in children with two or more of the following: hypopituitarism, midline brain abnormalities, and optic nerve hypoplasia. Children with SOD experience varied visual impairment and endocrine dysfunction. Autistic-like behaviours have been reported; however, their nature and prevalence remain to be fully understood. The present systematic review aimed to explore the type and prevalence of neurodevelopmental impairments in children with SOD spectrum conditions. METHODS: The search was conducted in PubMed, EMBASE, and PsycInfo. Hand-searching reference lists of included studies was conducted. All peer-reviewed, observational studies assessing behavioural and cognitive impairments or autism spectrum disorder (ASD) symptoms in children (< 18 years) with SOD, optic nerve hypoplasia, and SOD-plus were included. Studies were excluded if they did not report standardised measures of neurodevelopmental impairments or ASD outcomes. RESULTS: From 2132 screened articles, 20 articles reporting data from a total of 479 children were included in prevalence estimates. Of 14 studies assessing cognitive-developmental outcomes, 175 of 336 (52%) children presented with intellectual disability or developmental delay. A diagnosis of ASD or clinical level of symptoms was observed in 65 of 187 (35%) children across five studies. Only five studies assessed for dysfunction across behavioural, emotional, or social domains and reported impairments in 88 of 184 (48%) of children assessed. LIMITATIONS: Importantly, high heterogeneity among the samples in relation to their neuroanatomical, endocrine, and optic nerve involvement meant that it was not possible to statistically assess the relative contribution of these confounding factors to the specific neurodevelopmental phenotype. This was further limited by the variation in study designs and behavioural assessments used across the included studies, which may have increased the risk of information bias. CONCLUSIONS: This systematic review suggests that the prevalence of neurodevelopmental impairments in children within the SOD spectrum may be high. Clinicians should therefore consider including formal assessments of ASD symptoms and neurodevelopmental impairments alongside routine care. There is, additionally, a need for further research to define and validate a standardised battery of tools that accurately identify neurodevelopmental impairments in SOD spectrum conditions, and for research to identify the likely causal mechanisms.
Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Hipopituitarismo , Hipoplasia do Nervo Óptico , Displasia Septo-Óptica , Humanos , Displasia Septo-Óptica/epidemiologia , Displasia Septo-Óptica/diagnóstico , Displasia Septo-Óptica/genética , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/complicações , Hipoplasia do Nervo Óptico/complicações , Hipopituitarismo/etiologia , Transtorno Autístico/complicaçõesRESUMO
PURPOSE: Diagnosis of congenital optic nerve hypoplasia (CONH) can be challenging in children or uncooperative individuals. Misdiagnosis can lead to inappropriate treatment; thus, it is important to identify an objective and reliable measurement. The purpose of this study was to evaluate whether Cirrus spectral domain optical coherence tomography (SD-OCT) is a valid test for diagnosing CONH by comparing it to the disc-macula distance to disc diameter (DM:DD) ratio. METHODS: A total of 93 participants (64 controls and 29 CONH) underwent comprehensive eye examinations, fundus photography and Cirrus SD-OCT. Receiver operating characteristic (ROC) curves for the DM:DD ratio and OCT disc area were constructed for CONH and control eyes. RESULTS: Mean (±SD) OCT disc area was 1.46 (±0.42) mm2 and 1.89 (±0.38) mm2 for CONH and control eyes, respectively (p < 0.0001). The area under the curve for the DM:DD ratio was 0.97 (95% confidence interval: 0.91-0.99) and 0.79 for OCT disc area (95% confidence interval: 0.70-0.86), which were significantly different (p = 0.0005). The optimal cut-off value for OCT disc area was 1.66 mm2 (76% sensitivity, 70% specificity), while the optimal cut-off for DM:DD ratio was 3.10 (85% sensitivity and 95% specificity). The Cirrus SD-OCT showed a tendency to overestimate disc size, especially in cases with no light perception (NLP) or segmental CONH. CONCLUSIONS: Although the DM:DD ratio is superior to OCT in diagnosing CONH with a higher sensitivity and specificity, the ratio is subject to inter-examiner variability and can be challenging to obtain. We found the Cirrus SD-OCT to be a valid objective test for diagnosing CONH. Caution is advised when using SD-OCT in segmental CONH or in an eye with NLP. We suggest 1.66 mm2 as the optimal cut-off value for Cirrus SD-OCT disc area to differentiate a hypoplastic from a normal optic disc.
Assuntos
Macula Lutea , Disco Óptico , Hipoplasia do Nervo Óptico , Criança , Humanos , Tomografia de Coerência Óptica/métodos , Técnicas de Diagnóstico OftalmológicoRESUMO
BACKGROUND: Optic nerve hypoplasia (ONH) is a birth defect of unknown etiology and a leading cause of visual impairment in developed countries. Recent studies suggest that factors of deprivation and exposures of poor nutritional status, such as lower gestational weight gain (GWG), may be associated with increased risk of ONH. The present study describes the prenatal features of mothers of ONH cases, including prepregnancy BMI and GWG, and the associations with clinical features of disease severity. METHODS: Retrospective study of prenatal records for cases of ONH enrolled in a research registry. Prepregnancy BMI and GWG were compared to maternal characteristics and clinical findings of ONH severity including bilaterality, hypopituitarism, and neuroradiographic abnormalities. RESULTS: Compared to population-based normative data of births in the United States, mothers of ONH cases (n = 55) were younger (23.3 vs. 25.8 years; p = 0.03), with higher incidence of inadequate GWG (34.0% vs. 20.4%; p = 0.03) predominantly in the first and second trimesters. The presence of major brain malformations was associated with younger maternal age (21.6 [IQR 19.4, 24.7] vs. 24.9 years [IQR 22.1, 28.5] [p = 0.02]), primiparity (44.1% vs. 13.3%; p = 0.05) and decreased prepregnancy BMI (20.9 kg/m2 [19, 22.5] vs. 25.5 kg/m2 [21.3, 28.2]; p < 0.01). CONCLUSION: Decreased prepregnancy BMI and inadequate GWG correlated with clinical features of ONH severity, specifically bilateral disease and presence of major brain malformations.
Assuntos
Ganho de Peso na Gestação , Malformações do Sistema Nervoso , Hipoplasia do Nervo Óptico , Gravidez , Feminino , Humanos , Estados Unidos , Aumento de Peso , Índice de Massa Corporal , Estudos RetrospectivosRESUMO
PURPOSE: This study aims to report the association of optic nerve hypoplasia (ONH), peripheral retinal nonperfusion, and secondary complications in pediatric patients. DESIGN: Retrospective case series. METHODS: The study was conducted between January 2015 and January 2022 at the Bascom Palmer Eye Institute. Inclusion criteria were clinical diagnosis of optic disc hypoplasia, age <18 years, and a fluorescein angiography (FA) of acceptable quality. RESULTS: Seven patients (11 eyes) met inclusion criteria. Average age at presentation was 3.5 years (range 1 month-8 years) and the mean follow-up time was 34.28 months (range 2-87 months). Four patients (57.14%) showed bilateral optic disc hypoplasia. All eyes exhibited peripheral retina nonperfusion on FA, in which mild severity was found in 7 eyes (63.63%), moderate in 2 eyes (18.18%), severe in 1 eye (9.09%) and extreme in 1 eye (9.09%). Eight eyes (72.72%) showed evidence of 360 degrees of retinal nonperfusion. Two patients (18.18%) were diagnosed with concurrent retinal detachment that were deemed inoperable at the time of diagnosis. All cases were observed without intervention. None of the patients were observed to have complications during follow-up. CONCLUSION: Among pediatric patients with ONH, there appears to be a high rate of concurrent retinal nonperfusion. In these cases, FA is a helpful tool to detect peripheral nonperfusion. Retinal findings are subtle in some cases and may not be detectable in children with suboptimal imaging performed without examination under anesthesia.
Assuntos
Disco Óptico , Hipoplasia do Nervo Óptico , Humanos , Criança , Lactente , Adolescente , Vasos Retinianos , Estudos Retrospectivos , Retina , Angiofluoresceinografia/métodosRESUMO
BACKGROUND: To investigate best-corrected visual acuity (BCVA) outcomes in patients with optic nerve hypoplasia (ONH)/septo-optic-pituitary dysplasia (SOD). Our primary hypothesis was that BCVA in patients with ONH/SOD does not change significantly over time. METHODS: A chart review was undertaken in patients with a confirmed diagnosis of ONH/SOD. Demographic and clinical ophthalmologic data were extracted. Quantitative BCVA data were investigated across clinic visits after converting acuities to the logarithm of the minimum angle of resolution (logMAR). RESULTS: There were 102 patients (56 males). Median age at the end of the study was 12.7 years. Median duration of follow-up was 4.5 years. BCVA significantly worsened slightly in the most affected eyes (0.056 average increase in logMAR/year, 95% confidence interval [CI]: 0.037 to 0.075) and significantly improved mildly in the lesser or equally affected eyes (0.014 average decrease in logMAR/year, 95% CI: 0.009 to 0.019) (P < 0.0001). CONCLUSIONS: Although the overall BCVA data showed a statistically significant change with time, the actual changes were small and are of doubtful meaningful clinical significance (less than one line change on a Snellen chart). Our data suggest that ONH/SOD are nonprogressive neurodevelopmental disorders. The mild worsening of BCVA in the most affected eyes may be caused by amblyopia, whereas the small improvement in the lesser or equally affected eyes may be caused by developmental maturation. In addition, the changes in BCVA may also be due to increasing reliability of visual assessments with increasing age.
Assuntos
Hipoplasia do Nervo Óptico , Doenças da Hipófise , Masculino , Criança , Humanos , Reprodutibilidade dos Testes , Nervo Óptico/diagnóstico por imagem , Acuidade Visual , Estudos RetrospectivosRESUMO
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) is a recently described autosomal dominant entity caused by pathogenic variants, mostly de novo, in the FBXO11 gene. It presents in the first years of life with highly variable clinical manifestations. The main features of IDDFBA include borderline-to-severe intellectual disability, behavioral problems, hypotonia, facial dysmorphisms, minor skeletal abnormalities, and recurrent infections. Although eye problems, such as refractive errors, eye misalignment and minor visual changes, have been described in about 48% of patients, a major ocular defect, namely, bilateral optic nerve hypoplasia, has been reported in the literature only once. We report an 8-year-old boy with a novel de novo pathogenic variant in FBXO11 gene (NM_001190274.1: c.1166dup, p.Cys390Metfs∗3) and a complex ophthalmological phenotype, consisting of right microphthalmia, very shallow anterior chamber, and persistent pupillary membrane, right dense nuclear cataract, bilateral optic nerve hypoplasia, and bilateral horizontal manifest nystagmus.
Assuntos
Anormalidades do Olho , Proteínas F-Box , Deficiência Intelectual , Hipoplasia do Nervo Óptico , Humanos , Deficiência Intelectual/genética , Hipotonia Muscular , Fenótipo , Proteína-Arginina N-Metiltransferases/genética , Proteínas F-Box/genéticaRESUMO
PURPOSE: To evaluate sweep VEP (sVEP) in preverbal children with optic nerve hypoplasia (ONH) and to assess associations between sVEP results, patient clinical characteristics and future recognition visual acuity. METHODS: The medical records of children with ONH who had sVEP testing and documented recognition visual acuity at the University of Wisconsin from 2005 to 2013 were reviewed retrospectively. Optic nerve size, amblyopia treatment, and neurologic diagnoses were collected. RESULTS: A total of 57 patients were included: 41 (71%) with bilateral ONH and 27 (47%) with neurologic abnormality. Mean age at initial sVEP was 13.3 months (range, 1-32). Mean duration between initial sVEP and final recognition acuity was 5.5 years (range, 3.5-7). Sweep VEP was associated with ONH severity (P < 0.05). Sweep VEP, and the combination of ONH severity and neurologic status, were significant predictors (P < 0.05) of logMAR optotype acuity, together accounting for 54%-61% of the variance in final recognition acuity. CONCLUSIONS: Sweep VEP in preverbal children with ONH depends on ONH severity and correlates with final recognition visual acuity. Children with milder degrees of ONH without neurologic abnormalities had better final vision, and patients with severe ONH and neurologic diagnoses had worse vision outcomes.
Assuntos
Ambliopia , Hipoplasia do Nervo Óptico , Ambliopia/diagnóstico , Criança , Potenciais Evocados Visuais , Humanos , Estudos Retrospectivos , Acuidade VisualRESUMO
Superior segmental optic nerve hypoplasia (SSONH) is a congenital condition characterized by developmental abnormalities of the superior optic disc and an underappreciated differential diagnosis for glaucoma. The reported prevalence is less than 1%, although likely underestimated due to the difficulties with diagnosis. The exact pathophysiology of SSONH remains elusive, but a mechanism involving developmental attrition of retinal ganglion cells has been proposed, and maternal diabetes is recognized as a major risk factor. SSONH often is observed incidentally, and the patients typically are then evaluated for an acquired optic atrophy, often glaucoma because of the presence of inferior visual field defects. There are 4 characteristic signs of SSONH: superior entrance of the central retinal artery, superior disc pallor, superior peripapillary halo, and thinning of the superior peripapillary nerve fiber layer; however, the presence of these signs is variable. Optical coherence tomography can be helpful in distinguishing SSONH by demonstrating superonasal retinal nerve fiber layer thinning, as compared to the inferotemporal thinning seen in glaucoma, and an aberrant extension of retinal pigment epithelium over Bruch membrane. Overall, the prognosis of SSONH is favorable, with a non-progressive course. It is essential that ophthalmologists recognize and differentiate SSONH from glaucoma to avoid misdiagnosis and unnecessary treatment.
Assuntos
Glaucoma , Disco Óptico , Hipoplasia do Nervo Óptico , Humanos , Disco Óptico/anormalidades , Células Ganglionares da Retina , Tomografia de Coerência Óptica/métodos , Testes de Campo VisualRESUMO
BACKGROUND: Costello syndrome (CS) is a multisystem developmental disorder caused by germline pathogenic variants in HRAS resulting in dysregulation of the Ras pathway. A systematic characterization of ophthalmic manifestations provides a unique opportunity to understand the role of Ras signal transduction in ocular development and guide optimal ophthalmic care in CS individuals. METHODS: Visual function, ocular features and genotype/phenotype correlations were evaluated in CS individuals harboring HRAS pathogenic variants, by cross-sectional and retrospective studies, and were recruited through the Costello Syndrome Family Network (CSFN) between 2007 and 2020. RESULTS: Fifty-six molecularly diagnosed CS individuals including 34 females and 22 males, ages ranging from 0.5 to 37 years were enrolled. The most common ophthalmic manifestations in the cross-sectional study were lack of stereopsis (96%), refractive errors (83%), strabismus (72%), nystagmus (69%), optic nerve hypoplasia or pallor (55%) and ptosis (13.7%) with higher prevalence than in the retrospective data (refractive errors (41%), strabismus (44%), nystagmus (26%), optic nerve hypoplasia or pallor (7%) and ptosis (11%)). Visual acuities were found to ranged from 20/25 to 20/800 and contrast sensitivity from 1.6% to 44%. HRAS pathogenic variants included p.G12S (84%), p.G13C (7%), p.G12A (5.4%), p.G12C (1.8%) and p.A146V (1.8%). CONCLUSION: Majority of individuals with CS have refractive errors, strabismus, nystagmus, absent stereopsis, and optic nerve abnormalities suggesting that HRAS and the Ras pathway play a vital role in visual system development. Ptosis, refractive errors and strabismus are amenable to treatment and early ophthalmic evaluation is crucial to prevent long-term vision impairment and improve overall quality of life in CS.
Assuntos
Síndrome de Costello , Hipoplasia do Nervo Óptico , Erros de Refração , Estrabismo , Síndrome de Costello/diagnóstico , Síndrome de Costello/genética , Estudos Transversais , Feminino , Humanos , Masculino , Palidez , Qualidade de Vida , Estudos RetrospectivosRESUMO
Resumo As alterações congênitas do nervo óptico são raras. A hipoplasia é a forma mais comum de alteração congênita do nervo óptico. Acredita-se que seja correlacionada à interrupção do desenvolvimento fetal e ao baixo peso ao nascer. Apresenta-se como uma anomalia não progressiva com acuidade visual geralmente preservada. Relatamos um caso de uma paciente com hipoplasia segmentar superior com hipertensão ocular após uso de corticoide, cursando com diminuição da camada de fibras nervosas. Os pacientes portadores de hipoplasia devem ser acompanhados com mais rigor caso tenham fatores de risco para glaucoma e deve ser considerada como um diagnóstico diferencial para o glaucoma de pressão normal.
Abstract Introduction: Congenital changes of the optic nerve are rare. Hypoplasia is the most common form of congenital alteration of the optic nerve. It is believed to be correlated with interruption of fetal development and low birth weight. It presents as a non-progressive anomaly with generally preserved visual acuity. We related a case of a patient with superior segmental hypoplasia with ocular hypertension after corticosteroid use, with a decrease in the nerve fiber layer. Patients with hypoplasia should be followed more closely if they have risk factors for glaucoma and should be considered as a differential diagnosis for normal pressure glaucoma.
Assuntos
Humanos , Feminino , Adulto , Glaucoma/diagnóstico , Diagnóstico Diferencial , Hipoplasia do Nervo Óptico/diagnósticoRESUMO
Un paciente de 3 meses con sospecha de estrabismo presenta al examen una gran anisometropía con -9.50 esfera en su ojo izquierdo y al fondo de ojo destaca una papila alterada similar a la papila de Morning-Glory. Las anomalías congénitas de nervio óptico (ACNO) son un grupo de condiciones que se presentan clínicamente como baja agudeza visual, estrabismo y/o nistagmus. El diagnóstico dife-rencial es clínico y complejo por la sobre posición morfológica entre estas. Los principales diagnósticos diferenciales son la papila deMorning-Glory, el coloboma y la hipoplasia de nervio óptico. Se recomienda manejo multidisciplinario por sus asociaciones sistémicas.
A 3-month-old patient with a suspicion of strabismus on examination has a great anisometropia with -9.50 sphere in his left eye and at the fundus examination an altered papilla similar to the Morning-Glory papilla. Congenital optic nerve abnormalities (ANOC) are a group of conditions that present clinically as low visual acuity, strabismus, and nystagmus. The differential diagnosis is clinical and complex due to the morphological position between them. The main differential diagnoses are the Morning-Glory papilla, the coloboma, and optic nerve hypoplasia. Multidisciplinary management is recommended for its systemic associations.
Assuntos
Nervo Óptico , Anormalidades Congênitas , Relatos de Casos , Diagnóstico Clínico , Anisometropia , Coloboma , Hipoplasia do Nervo ÓpticoRESUMO
Over the past 50 years, our understanding of optic nerve hypoplasia has advanced in a series of waves, with each wave producing a paradigm shift in clinical diagnosis and management. First was the recognition that optic nerve hypoplasia is a condition distinct from optic atrophy and is a frequent cause of blindness in children. Second was the identification of associated brain malformations. Third was the realization that many children with optic nerve hypoplasia have hypopituitarism. Fourth was the identification of segmental forms of optic nerve hypoplasia. Fifth was the recognition that some children are at risk for sudden death, which can often be prevented with preemptive measures. Last was the identification of additional systemic accompaniments. Genetic studies have been largely unfruitful and, for most cases, the cause remains unknown.
Assuntos
Hipopituitarismo , Hipoplasia do Nervo Óptico , Cegueira , Criança , Humanos , Mentores , Nervo ÓpticoRESUMO
Fovea plana is a congenital condition characterized by anatomic absence of the foveal pit. It may be isolated or associated with congenital ocular anomalies. In this report, we present a case of fovea plana associated with situs inversus of the optic disc, optic disc hypoplasia, tilted optic disc, and prepapillary vascular loop and with best corrected visual acuity of 20/32. The aim of this report is to demonstrate the coexistence of very rare multiple optic disc anomalies and fovea plana, and also to emphasize that the use of multimodal imaging methods facilitates the identification of rare anomalies.