Hipófise é uma glândula endócrina com cerca de 1 cm de diâmetro alojada na sela túrcica ou fossa hipofisária do osso esfenoide na base do cérebro. Está localizada abaixo do hipotálamo e posteriormente ao quiasma óptico, sendo ligada ao hipotálamo pela haste pedúnculo hipofisário ou infundíbulo, é envolvida pela dura-máter. A hipófise é considerada uma "glândula mestra", pois secreta hormônios que controlam o funcionamento de outras glândulas, sendo grande parte de suas funções reguladas pelo hipotálamo.
Introdução
O que você precisa saber de cara
Defeito raro do desenvolvimento durante a embriogénese, caracterizado por ausência congénita da cabeça do nervo ótico, das fibras do nervo ótico, das células ganglionares da retina e dos vasos sanguíneos da retina num olho malformado. Muitas vezes ocorre unilateralmente com desenvolvimento cerebral normal. Nos casos bilaterais, é acompanhada por outras malformações do sistema nervoso central.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
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Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Aplasia isolada do nervo óptico
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Publicações mais relevantes
Optic neuropathies induced by immune checkpoint inhibitors: A case series and systematic review of the literature.
Immune checkpoint inhibitor (ICI)-related optic neuritis is rare but clinically significant as visual sequelae are reported in around half of affected patients. We retrospectively collected all cases of ICI-related optic neuropathy referred to two tertiary centers. A systematic review of PubMed, Embase, and Medline was conducted following PRISMA guidelines. Cases were classified into: i) optic neuritis, defined by the presence of consistent symptoms (visual loss, dyschromatopsia, afferent pupillary defect) and optic nerve abnormalities on MRI or visual evoked potentials (VEPs); ii) papillitis, defined by any visual disturbance associated with optic disc oedema and absence of optic neuropathy signs on MRI imaging or VEPs. Fifty cases were identified. The most common presentation was bilateral, painless visual acuity reduction with papilledema. All optic neuritis cases involved vision loss compared to 60 % of papillitis patients, who also reported scotomas, photopsia, or floaters. Papillitis was frequently associated with uveitis, either isolated or as part of Vogt-Koyanagi-Harada-like syndrome, whereas optic neuritis was more often associated with immune-related neurological toxicities, including neuromyelitis optica spectrum disorder. Despite immunomodulatory treatment, visual deficits persisted in 60 % of cases - rising to nearly 80 % in optic neuritis cases. Seven patients with papillitis and one with optic neuropathy resumed ICIs without recurrence. Two distinct patterns of ICI-induced optic neuropathy emerge: papillitis, usually associated with uveitis and Vogt-Koyanagi-Harada syndrome, and optic neuritis, linked to broader immune-related neurological toxicities and poorer outcomes. Our findings suggest that ICIs may be safely reintroduced after full recovery from ICI-related papillitis.
PCR-Confirmed Bilateral Varicella Zoster Virus Anterior Uveitis in an Immunosuppressed Young Adult.
To describe a rare, PCR-confirmed case of bilateral fibrinous anterior uveitis with hypopyon after primary varicella infection in an immunosuppressed adult, highlighting the value of early testing and antiviral therapy for vision preservation. A 24-year-old man, immunosuppressed after bone marrow transplantation for acute myeloblastic leukemia, developed pain, redness, and blurred vision in the left eye two weeks after systemic varicella; the right eye became involved three days later. Both eyes had fibrinous anterior uveitis with hypopyon, elevated intraocular pressure, and early patchy iris atrophy. Aqueous humor real-time PCR confirmed varicella-zoster virus and excluded herpes simplex virus and cytomegalovirus. Best-corrected visual acuity improved from 20/150 to 20/25 in both eyes. Treatment included intravenous acyclovir for 10 days, intensive topical corticosteroids, cycloplegics, and temporary topical antiglaucoma therapy, followed by oral valacyclovir tapered from 1000 mg twice daily to 500 mg twice daily over eight weeks and continued for six months. Inflammation resolved, intraocular pressures normalized, and bilateral patchy iris atrophy persisted. Fundus examinations remained normal, with no retinal lesions or optic nerve abnormalities on serial examinations. Sequential bilateral varicella-zoster virus anterior uveitis in adults is exceedingly rare and usually associated with systemic immunosuppression. PCR confirmation, together with elevated intraocular pressure and iris atrophy, supports the diagnosis and underscores the value of early molecular testing. Prompt systemic antiviral therapy with vigilant control of inflammation and intraocular pressure is essential to preserve vision. Long-term follow-up is crucial to detect intraocular pressure elevation or recurrence at an early stage.
SWEPT SOURCE OPTICAL COHERENCE TOMOGRAPHY IMAGING OF THE OPTIC PIT COMPLEX.
To reassess the anatomical basis of optic disc pit maculopathy using swept source optical coherence tomography and to characterize the broader structural abnormalities comprising the optic pit complex. Sixteen patients with optic disc pit maculopathy were imaged using a high-resolution swept source optical coherence tomography system (DREAM optical coherence tomography). Cross-sectional and volume-rendered scans were analyzed for lamina cribrosa defects, intraneural cavitations, and pathways for fluid entry into or beneath the retina. All eyes demonstrated lamina cribrosa defects with associated cavitations extending a mean of 1855 ± 492 µ m posterior to a modified Bruch membrane opening. Four distinct patterns by which fluid entered the retina were observed: (1) direct channels from cavitations into the retina, (2) perivascular hyporeflective spaces, (3) intraneural channels extending toward cystoid spaces, and (4) isolated retinal cysts without a visible interconnection. Vitreous remnants, trabecular structures, or disorganized connective tissue were found within the optic nerve pit in several eyes. In 13% of cases, the pit was not visible by ophthalmoscopy due to overlying tissue. These structural variations frequently coexisted, and associated abnormalities extended beyond the optic disc margins. Optic disc pit maculopathy is associated with a spectrum of deep optic nerve abnormalities, collectively termed the optic pit complex. The combination of laminar disruption, cavitations, and multiple anatomical conduits for fluid ingress broadens the morphologic understanding of this condition. Swept source optical coherence tomography enables visualization of structures not accessible by ophthalmoscopy and may improve diagnostic precision, guide treatment decisions, and clarify the diverse mechanisms contributing to fluid accumulation in optic disc pit maculopathy.
Developmental, Endocrine, and Ophthalmologic Outcomes in Children Prenatally Diagnosed With Midline Brain Malformations.
Midline brain malformations (MBMs) are commonly prenatally diagnosed and associated with endocrinologic, ophthalmic, and adverse developmental outcomes. A retrospective review was conducted of all neonates identified prenatally with suspected MBMs between 2018 and 2022 at the only multidisciplinary referral center in a multistate region. Abnormalities were categorized as isolated versus complicated absent cavum septum pellucidum (ASP) (N = 11 vs N = 13) or corpus callosum abnormalities (AgCC) (N = 11 vs N = 43) or holoprosencephaly spectrum (N = 12). We assessed subsequent diagnoses and outcomes using a standardized assessment pathway. Infants with holoprosencephaly were significantly more likely to die than patients with isolated ASP or AgCC (P = 0.02). Surviving infants with holoprosencephaly had universal developmental delay, significantly more than the 10% seen in isolated ASP or AgCC (P = 0.007), and infants with isolated MBMs were significantly more likely to be alive and without endocrine, ophthalmologic, developmental, or epileptic diagnoses at last follow-up than other groups (isolated ASP = 67%, AgCC 82%). The median time to diagnosis of optic nerve hypoplasia was 3 days and initial identification of endocrine concerns was 7 days. There were no significant differences between rates of diagnosis for endocrine, ophthalmologic, or epileptic complications between groups, with all MBMs demonstrating a risk for complications. Our study shows the importance of multidisciplinary screening in all infants with midline brain defects. Most infants with isolated ASP or AgCC did not have MBM-associated diagnoses at last follow-up, but all groups had comorbidities and would benefit from multispecialty postnatal monitoring.
Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.
Biallelic variants in NADH (nicotinamide adenine dinucleotide (NAD) + hydrogen (H))-ubiquinone oxidoreductase 1 alpha subcomplex 13 have been linked to mitochondrial complex I deficiency, nuclear type 28, based on three affected individuals from two families. With only two families reported, the clinical and molecular spectrum of NADH-ubiquinone oxidoreductase 1 alpha subcomplex 13-related diseases remains unclear. We report 10 additional affected individuals from nine independent families, identifying four missense variants (including recurrent c.170G > A) and three ultra-rare or novel predicted loss-of-function biallelic variants. Updated clinical-radiological data from previously reported families and a literature review compiling clinical features of all reported patients with isolated complex I deficiency caused by 43 genes encoding complex I subunits and assembly factors are also provided. Our cohort (mean age 7.8 ± 5.4 years; range 2.5-18) predominantly presented a moderate-to-severe neurodevelopmental syndrome with oculomotor abnormalities (84%), spasticity/hypertonia (83%), hypotonia (69%), cerebellar ataxia (66%), movement disorders (58%) and epilepsy (46%). Neuroimaging revealed bilateral symmetric T2 hyperintense substantia nigra lesions (91.6%) and optic nerve atrophy (66.6%). Protein modeling suggests missense variants destabilize a critical junction between the hydrophilic and membrane arms of complex I. Fibroblasts from two patients showed reduced complex I activity and compensatory complex IV activity increase. This study characterizes NADH-ubiquinone oxidoreductase 1 alpha subcomplex 13-related disease in 13 individuals, highlighting genotype-phenotype correlations.
Publicações recentes
SPG7-Related Neurologic Disorder.
Correlation between retinal nerve fibre layer thickness and tumour volume in patients with optic pathway gliomas.
The Prevalence of Septo-Optic Dysplasia in Neonates with Absent Cavum Septi Pellucidi Identified during Routine Prenatal Imaging.
Isolated optic nerve relapse in T-cell acute lymphoblastic leukaemia.
Treatment of isolated pediatric optic nerve glioma: A nationwide retrospective cohort study and systematic literature review on visual and radiological outcome.
📚 EuropePMCmostrando 96
Optic neuropathies induced by immune checkpoint inhibitors: A case series and systematic review of the literature.
European journal of cancer (Oxford, England : 1990)Congenital Optic Disc Anomalies-A Picture is Worth a Thousand Words!
Journal of binocular vision and ocular motilityPCR-Confirmed Bilateral Varicella Zoster Virus Anterior Uveitis in an Immunosuppressed Young Adult.
Ocular immunology and inflammationNovel KIF11 Variants with New Clinical Features: Expanding the Clinical Phenotype.
Balkan journal of medical genetics : BJMGNovel Variant of RARB Gene in Familial Isolated Ocular Coloboma: A Case Report.
The American journal of case reportsSWEPT SOURCE OPTICAL COHERENCE TOMOGRAPHY IMAGING OF THE OPTIC PIT COMPLEX.
Retina (Philadelphia, Pa.)Clinical and Imaging Characteristics of Uveitic Optic Disc Edema.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyVariable Phenotypic Expression of PAX2 Variants in Two Lithuanian Families with Kidney Disease.
Medicina (Kaunas, Lithuania)Developmental, Endocrine, and Ophthalmologic Outcomes in Children Prenatally Diagnosed With Midline Brain Malformations.
Pediatric neurologyNovel compound heterozygous variants in SIX6 cause a PAX2 like Dysplastic Optic Disc with macular abnormalities without coexistent microphthalmia or cataract.
Ophthalmic geneticsBiallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.
Brain communicationsTherapeutic Dilemma of a Juxtapapillary Retinal Capillary Hemangioma.
CureusThe Prevalence of Septo-Optic Dysplasia in Neonates with Absent Cavum Septi Pellucidi Identified during Routine Prenatal Imaging.
American journal of perinatologyClinical, laboratory, and orbital imaging features of giant cell arteritis in comparison to non-arteritic anterior ischemic optic neuropath: a single center case series.
Frontiers in ophthalmologyCongenital bilateral coloboma of iris and choroid accompanied by unilateral multiple primary pigmented iris cysts: A case report.
International journal of surgery case reportsLeukemic occult infiltrative optic neuropathy presenting as optic neuritis: a case report.
BMC ophthalmologyCharacteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy.
Scientific reportsCongenital right optic nerve colobomatous cyst associated with microphthalmos.
Radiology case reportsApplication of the international criteria for optic neuritis in the Acute Optic Neuritis Network.
Annals of clinical and translational neurologyNeurobrucellosis: laboratory features, clinical characteristics, antibiotic treatment, and clinical outcomes of 21 patients.
BMC infectious diseasesModernizing the evaluation of infantile nystagmus: the role of handheld optical coherence tomography.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusSepto-Optic Dysplasia: A Case Series of 33 Patients.
Neuro-ophthalmology (Aeolus Press)Glaucoma as a cause of optic nerve abnormalities on magnetic resonance imaging.
Eye (London, England)Prenatal and Postnatal Ocular Abnormalities Following Congenital Zika Virus Infections: A Systematic Review.
Ocular immunology and inflammationSymptoms of Isolated Optic Neuropathy in a Patient with Systemic, Brain, and Meningeal Metastases from Breast Cancer: A Case Report.
Case reports in ophthalmologyOptic Nerve MRI T2-Hyperintensity: A Nonspecific Marker of Optic Nerve Damage.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietySecondary developmental glaucoma.
Taiwan journal of ophthalmologyOphthalmic diseases in meningitis within the pediatric population.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologieMyopathy and Ophthalmologic Abnormalities in Association With Multiple Skeletal Muscle Mitochondrial DNA Deletions.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyTilted disc in eyes with fovea plana.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieIsolated Sixth Nerve Palsies in a Child With Familial Hemophagocytic Lymphohistiocytosis Type 2.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyCorneal axonal loss as an imaging biomarker of neurodegeneration in multiple sclerosis: a longitudinal study.
Therapeutic advances in neurological disordersOptic Nerve Structural and Functional Changes in LHON-Affected and Asymptomatic Maternal Relatives: Association with H and HV Mitochondrial Haplogroups.
International journal of molecular sciencesCongenital isolated unilateral third nerve palsy in children: the diagnostic contribution of high-resolution MR imaging.
NeuroradiologyOphthalmic manifestations of MEPAN syndrome.
Ophthalmic geneticsDelineating septo-optic dysplasia.
Birth defects researchThe use of OCT to detect signs of intracranial hypertension in patients with sagittal suture synostosis: Reference values and correlations.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryIncidental optic nerve sheath arachnoid cyst: A rare case finding with literature review.
SAGE open medical case reportsErdheim-Chester disease: look it in the eye. An orbital magnetic resonance imaging study.
HaematologicaNeuro-ophthalmological manifestations of sarcoidosis.
Journal of neuroimmunologyACO2 clinicobiological dataset with extensive phenotype ontology annotation.
Scientific dataComprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.
Human molecular geneticsSubclinical anterior optic pathway involvement in early multiple sclerosis and clinically isolated syndromes.
Brain : a journal of neurologyLipomatosis and optic neuropathy clinches the diagnosis of myoclonic epilepsy with ragged red fibres (MERRF) syndrome.
BMJ case reportsCorrelation of Pattern Reversal and Flash Visual Evoked Potential Latencies With Optical Coherence Tomography Measures in Patients With Optic Neuropathy and Patients With Multiple Sclerosis Without Optic Neuropathy.
Journal of clinical neurophysiology : official publication of the American Electroencephalographic SocietyLow-Field Magnetic Resonance Imaging Findings in 18 Dogs With Presumed Optic Neuritis.
Frontiers in veterinary science[Prenatal diagnosis of isolated agenesis of the septum pellucidum with ultrasound and magnetic resonance imaging].
Orvosi hetilapA 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.
BMC medical genomicsA molecular and cellular analysis of human embryonic optic fissure closure related to the eye malformation coloboma.
Development (Cambridge, England)Myelin Oligodendrocyte Glycoprotein (MOG) Antibody-Associated CNS Demyelination: Clinical Spectrum and Comparison with Aquaporin-4 Antibody Positive Neuromyelitis Optica Spectrum Disorder.
Neurology IndiaA 34-year-old Japanese patient exhibiting NBAS deficiency with a novel mutation and extended phenotypic variation.
European journal of medical geneticsWhole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia.
American journal of medical genetics. Part AMultimodal Imaging in a Case of Fovea Plana Associated with Situs Inversus of the Optic Disc.
Turkish journal of ophthalmology[Clinical features of children with myelin oligodendrocyte glycoprotein antibody-associated disorders].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsLong-term postnatal outcome of fetuses with prenatally suspected septo-optic dysplasia.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyFetal Ultrasound and Magnetic Resonance Imaging Findings in Suspected Septo-Optic Dysplasia: A Diagnostic Dilemma.
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in MedicineMutations in LAMB2 Are Associated With Albuminuria and Optic Nerve Hypoplasia With Hypopituitarism.
The Journal of clinical endocrinology and metabolismEstablishment of a human iPSC line (SDQLCHi010-A) from a patient with optic nerve malformation carrying a heterozygous mutation in PAX6 gene.
Stem cell researchEpidemiologic and Clinical Characteristics of Optic Neuritis in Japan.
OphthalmologyOnodi cell mucocele causing isolated trochlear nerve palsy: A case report.
MedicineScedosporium apiospermum: A Rare Cause of Aggressive Orbital Apex Syndrome.
CureusOptic Disc Coloboma in children - prevalence, clinical characteristics and associated morbidity.
Acta ophthalmologicaOptic nerve double inversion recovery hypersignal in patients with clinically isolated syndrome is associated with asymptomatic gadolinium-enhanced lesion.
Multiple sclerosis (Houndmills, Basingstoke, England)High prevalence of syndromic disorders in patients with non-isolated central precocious puberty.
European journal of endocrinologyIsolated optic neuritis with a concurrent abnormal trigeminal nucleus on imaging: case report of a rare complication of herpes zoster ophthalmicus.
BMC neurologyEye Findings in Infants With Suspected or Confirmed Antenatal Zika Virus Exposure.
Pediatrics[Bilateral iris coloboma].
The Pan African medical journalMorning glory syndrome with Moyamoya disease: A rare association with role of imaging.
The Indian journal of radiology & imagingPrimary optic neuropathy in Behçet's syndrome.
Multiple sclerosis (Houndmills, Basingstoke, England)Cross-modal plasticity among sensory networks in neuromyelitis optica spectrum disorders.
Multiple sclerosis (Houndmills, Basingstoke, England)Clinical spectrum and prognostic value of CNS MOG autoimmunity in adults: The MOGADOR study.
NeurologySepto-optic Dysplasia : Assessment of Associated Findings with Special Attention to the Olfactory Sulci and Tracts.
Clinical neuroradiologySurgery of Tuberculum Sellae Meningioma: A Technical Purview on Pterional Approach.
Journal of neurological surgery. Part B, Skull baseCongenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys).
American journal of medical genetics. Part AThe central diabetes insipidus associated with septo-optic dysplasia (de Morsier syndrome).
Pediatric endocrinology, diabetes, and metabolismOptic neuritis in dogs: 96 cases (1983-2016).
Veterinary ophthalmologyRetinal Ganglion Cell Topography in Patients With Visual Pathway Pathology.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyChildren with blindness - major causes, developmental outcomes and implications for habilitation and educational support: a two-decade, Swedish population-based study.
Acta ophthalmologicaIsolated optic nerve gliomas: a multicenter historical cohort study.
Journal of neurosurgery. PediatricsRetinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene.
Ophthalmic geneticsCongenital anomalies of the optic disc: insights from optical coherence tomography imaging.
Current opinion in ophthalmology[Situs inversus of the optic nerve. A case report].
Revista de neurologiaGenetic causes of optic nerve hypoplasia.
Journal of medical geneticsMagnetic resonance imaging findings in children with spasmus nutans.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusAcute Zonal Occult Outer Retinopathy Associated With Retrobulbar Optic Neuritis.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietySpontaneous rupture of chorioretinal coloboma in an 8-year-old child is treated by temporal fascia graft.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusAccessory Extraocular Muscle as a Cause of Restrictive Strabismus.
StrabismusBilateral Isolated Optic Nerve Colobomatous Cysts.
OphthalmologyA novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations.
Ophthalmic geneticsCytoskeletal Linker Protein Dystonin Is Not Critical to Terminal Oligodendrocyte Differentiation or CNS Myelination.
PloS oneA Unique Case of Bilateral Microphthalmia That May Be Related to 14q32.33.
Ophthalmic plastic and reconstructive surgeryNondecussating retinal-fugal fiber syndrome: Clinical and neuroimaging clues to diagnosis.
Indian journal of ophthalmologyTraumatic panhypopituitarism resulting in acute adrenal crisis.
The journal of trauma and acute care surgeryCongenital optic tract hypoplasia.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusPERIPHERAL AVASCULAR RETINA WITH DISK ANOMALY AND HIGH MYOPIA: A Novel Association in a Hereditary Isolated Ocular Disorder.
Retina (Philadelphia, Pa.)Unusual association of keratoconus with situs inversus and micronystagmus.
BMJ case reportsAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Optic neuropathies induced by immune checkpoint inhibitors: A case series and systematic review of the literature.
- PCR-Confirmed Bilateral Varicella Zoster Virus Anterior Uveitis in an Immunosuppressed Young Adult.
- SWEPT SOURCE OPTICAL COHERENCE TOMOGRAPHY IMAGING OF THE OPTIC PIT COMPLEX.
- Developmental, Endocrine, and Ophthalmologic Outcomes in Children Prenatally Diagnosed With Midline Brain Malformations.
- Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.
- SPG7-Related Neurologic Disorder.
- Correlation between retinal nerve fibre layer thickness and tumour volume in patients with optic pathway gliomas.
- The Prevalence of Septo-Optic Dysplasia in Neonates with Absent Cavum Septi Pellucidi Identified during Routine Prenatal Imaging.
- Isolated optic nerve relapse in T-cell acute lymphoblastic leukaemia.
- Treatment of isolated pediatric optic nerve glioma: A nationwide retrospective cohort study and systematic literature review on visual and radiological outcome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:637064(Orphanet)
- MONDO:0958342(MONDO)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar