Raras
Buscar doenças, sintomas, genes...
Aplasia isolada do nervo óptico
ORPHA:637064CID-10 · Q07.8CID-11 · LA13.71DOENÇA RARA

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.

Mantido por Agente Raras·Colaborar como especialista →

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.

Publicações científicas
95 artigos
Último publicado: 1993

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
3
pacientes catalogados
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q07.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa11
Total histórico95PubMed
Últimos 10 anos98publicações
Pico202417 papers
Linha do tempo
20202015Hoje · 2026🧪 2010Primeiro ensaio clínico📈 2024Ano de pico
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico3
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 3 ensaios
Carregando informações de tratamento...

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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Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

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Ensaios clínicos abertos e novidades científicas recentes

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Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Optic neuropathies induced by immune checkpoint inhibitors: A case series and systematic review of the literature.

European journal of cancer (Oxford, England : 1990)2026 Mar 26

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.

#2

PCR-Confirmed Bilateral Varicella Zoster Virus Anterior Uveitis in an Immunosuppressed Young Adult.

Ocular immunology and inflammation2026 Feb

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.

#3

SWEPT SOURCE OPTICAL COHERENCE TOMOGRAPHY IMAGING OF THE OPTIC PIT COMPLEX.

Retina (Philadelphia, Pa.)2026 Jan 01

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.

#4

Developmental, Endocrine, and Ophthalmologic Outcomes in Children Prenatally Diagnosed With Midline Brain Malformations.

Pediatric neurology2025 Jun

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.

#5

Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.

Brain communications2025

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

Ver todas no PubMed

📚 EuropePMCmostrando 96

2026

Optic neuropathies induced by immune checkpoint inhibitors: A case series and systematic review of the literature.

European journal of cancer (Oxford, England : 1990)
2025

Congenital Optic Disc Anomalies-A Picture is Worth a Thousand Words!

Journal of binocular vision and ocular motility
2026

PCR-Confirmed Bilateral Varicella Zoster Virus Anterior Uveitis in an Immunosuppressed Young Adult.

Ocular immunology and inflammation
2025

Novel KIF11 Variants with New Clinical Features: Expanding the Clinical Phenotype.

Balkan journal of medical genetics : BJMG
2025

Novel Variant of RARB Gene in Familial Isolated Ocular Coloboma: A Case Report.

The American journal of case reports
2026

SWEPT SOURCE OPTICAL COHERENCE TOMOGRAPHY IMAGING OF THE OPTIC PIT COMPLEX.

Retina (Philadelphia, Pa.)
2024

Clinical and Imaging Characteristics of Uveitic Optic Disc Edema.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
2025

Variable Phenotypic Expression of PAX2 Variants in Two Lithuanian Families with Kidney Disease.

Medicina (Kaunas, Lithuania)
2025

Developmental, Endocrine, and Ophthalmologic Outcomes in Children Prenatally Diagnosed With Midline Brain Malformations.

Pediatric neurology
2025

Novel compound heterozygous variants in SIX6 cause a PAX2 like Dysplastic Optic Disc with macular abnormalities without coexistent microphthalmia or cataract.

Ophthalmic genetics
2025

Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.

Brain communications
2024

Therapeutic Dilemma of a Juxtapapillary Retinal Capillary Hemangioma.

Cureus
2025

The Prevalence of Septo-Optic Dysplasia in Neonates with Absent Cavum Septi Pellucidi Identified during Routine Prenatal Imaging.

American journal of perinatology
2024

Clinical, 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 ophthalmology
2024

Congenital bilateral coloboma of iris and choroid accompanied by unilateral multiple primary pigmented iris cysts: A case report.

International journal of surgery case reports
2024

Leukemic occult infiltrative optic neuropathy presenting as optic neuritis: a case report.

BMC ophthalmology
2024

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy.

Scientific reports
2024

Congenital right optic nerve colobomatous cyst associated with microphthalmos.

Radiology case reports
2024

Application of the international criteria for optic neuritis in the Acute Optic Neuritis Network.

Annals of clinical and translational neurology
2024

Neurobrucellosis: laboratory features, clinical characteristics, antibiotic treatment, and clinical outcomes of 21 patients.

BMC infectious diseases
2024

Modernizing 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 Strabismus
2024

Septo-Optic Dysplasia: A Case Series of 33 Patients.

Neuro-ophthalmology (Aeolus Press)
2024

Glaucoma as a cause of optic nerve abnormalities on magnetic resonance imaging.

Eye (London, England)
2024

Prenatal and Postnatal Ocular Abnormalities Following Congenital Zika Virus Infections: A Systematic Review.

Ocular immunology and inflammation
2024

Symptoms of Isolated Optic Neuropathy in a Patient with Systemic, Brain, and Meningeal Metastases from Breast Cancer: A Case Report.

Case reports in ophthalmology
2024

Optic Nerve MRI T2-Hyperintensity: A Nonspecific Marker of Optic Nerve Damage.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
2023

Secondary developmental glaucoma.

Taiwan journal of ophthalmology
2024

Ophthalmic diseases in meningitis within the pediatric population.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
2024

Myopathy 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 Society
2023

Tilted disc in eyes with fovea plana.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2023

Isolated 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 Society
2023

Corneal axonal loss as an imaging biomarker of neurodegeneration in multiple sclerosis: a longitudinal study.

Therapeutic advances in neurological disorders
2023

Optic Nerve Structural and Functional Changes in LHON-Affected and Asymptomatic Maternal Relatives: Association with H and HV Mitochondrial Haplogroups.

International journal of molecular sciences
2023

Congenital isolated unilateral third nerve palsy in children: the diagnostic contribution of high-resolution MR imaging.

Neuroradiology
2023

Ophthalmic manifestations of MEPAN syndrome.

Ophthalmic genetics
2022

Delineating septo-optic dysplasia.

Birth defects research
2022

The 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 Neurosurgery
2022

Incidental optic nerve sheath arachnoid cyst: A rare case finding with literature review.

SAGE open medical case reports
2022

Erdheim-Chester disease: look it in the eye. An orbital magnetic resonance imaging study.

Haematologica
2022

Neuro-ophthalmological manifestations of sarcoidosis.

Journal of neuroimmunology
2021

ACO2 clinicobiological dataset with extensive phenotype ontology annotation.

Scientific data
2021

Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.

Human molecular genetics
2021

Subclinical anterior optic pathway involvement in early multiple sclerosis and clinically isolated syndromes.

Brain : a journal of neurology
2021

Lipomatosis and optic neuropathy clinches the diagnosis of myoclonic epilepsy with ragged red fibres (MERRF) syndrome.

BMJ case reports
2022

Correlation 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 Society
2020

Low-Field Magnetic Resonance Imaging Findings in 18 Dogs With Presumed Optic Neuritis.

Frontiers in veterinary science
2020

[Prenatal diagnosis of isolated agenesis of the septum pellucidum with ultrasound and magnetic resonance imaging].

Orvosi hetilap
2020

A 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 genomics
2020

A molecular and cellular analysis of human embryonic optic fissure closure related to the eye malformation coloboma.

Development (Cambridge, England)
2020

Myelin Oligodendrocyte Glycoprotein (MOG) Antibody-Associated CNS Demyelination: Clinical Spectrum and Comparison with Aquaporin-4 Antibody Positive Neuromyelitis Optica Spectrum Disorder.

Neurology India
2020

A 34-year-old Japanese patient exhibiting NBAS deficiency with a novel mutation and extended phenotypic variation.

European journal of medical genetics
2020

Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia.

American journal of medical genetics. Part A
2020

Multimodal Imaging in a Case of Fovea Plana Associated with Situs Inversus of the Optic Disc.

Turkish journal of ophthalmology
2020

[Clinical features of children with myelin oligodendrocyte glycoprotein antibody-associated disorders].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
2020

Long-term postnatal outcome of fetuses with prenatally suspected septo-optic dysplasia.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2020

Fetal 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 Medicine
2020

Mutations in LAMB2 Are Associated With Albuminuria and Optic Nerve Hypoplasia With Hypopituitarism.

The Journal of clinical endocrinology and metabolism
2019

Establishment of a human iPSC line (SDQLCHi010-A) from a patient with optic nerve malformation carrying a heterozygous mutation in PAX6 gene.

Stem cell research
2019

Epidemiologic and Clinical Characteristics of Optic Neuritis in Japan.

Ophthalmology
2019

Onodi cell mucocele causing isolated trochlear nerve palsy: A case report.

Medicine
2018

Scedosporium apiospermum: A Rare Cause of Aggressive Orbital Apex Syndrome.

Cureus
2019

Optic Disc Coloboma in children - prevalence, clinical characteristics and associated morbidity.

Acta ophthalmologica
2019

Optic nerve double inversion recovery hypersignal in patients with clinically isolated syndrome is associated with asymptomatic gadolinium-enhanced lesion.

Multiple sclerosis (Houndmills, Basingstoke, England)
2018

High prevalence of syndromic disorders in patients with non-isolated central precocious puberty.

European journal of endocrinology
2018

Isolated optic neuritis with a concurrent abnormal trigeminal nucleus on imaging: case report of a rare complication of herpes zoster ophthalmicus.

BMC neurology
2018

Eye Findings in Infants With Suspected or Confirmed Antenatal Zika Virus Exposure.

Pediatrics
2018

[Bilateral iris coloboma].

The Pan African medical journal
2018

Morning glory syndrome with Moyamoya disease: A rare association with role of imaging.

The Indian journal of radiology &amp; imaging
2019

Primary optic neuropathy in Behçet's syndrome.

Multiple sclerosis (Houndmills, Basingstoke, England)
2019

Cross-modal plasticity among sensory networks in neuromyelitis optica spectrum disorders.

Multiple sclerosis (Houndmills, Basingstoke, England)
2018

Clinical spectrum and prognostic value of CNS MOG autoimmunity in adults: The MOGADOR study.

Neurology
2019

Septo-optic Dysplasia : Assessment of Associated Findings with Special Attention to the Olfactory Sulci and Tracts.

Clinical neuroradiology
2018

Surgery of Tuberculum Sellae Meningioma: A Technical Purview on Pterional Approach.

Journal of neurological surgery. Part B, Skull base
2018

Congenital 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 A
2018

The central diabetes insipidus associated with septo-optic dysplasia (de Morsier syndrome).

Pediatric endocrinology, diabetes, and metabolism
2018

Optic neuritis in dogs: 96 cases (1983-2016).

Veterinary ophthalmology
2018

Retinal Ganglion Cell Topography in Patients With Visual Pathway Pathology.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
2018

Children with blindness - major causes, developmental outcomes and implications for habilitation and educational support: a two-decade, Swedish population-based study.

Acta ophthalmologica
2017

Isolated optic nerve gliomas: a multicenter historical cohort study.

Journal of neurosurgery. Pediatrics
2018

Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene.

Ophthalmic genetics
2017

Congenital anomalies of the optic disc: insights from optical coherence tomography imaging.

Current opinion in ophthalmology
2017

[Situs inversus of the optic nerve. A case report].

Revista de neurologia
2017

Genetic causes of optic nerve hypoplasia.

Journal of medical genetics
2017

Magnetic resonance imaging findings in children with spasmus nutans.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2017

Acute Zonal Occult Outer Retinopathy Associated With Retrobulbar Optic Neuritis.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
2017

Spontaneous 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 Strabismus
2016

Accessory Extraocular Muscle as a Cause of Restrictive Strabismus.

Strabismus
2016

Bilateral Isolated Optic Nerve Colobomatous Cysts.

Ophthalmology
2017

A novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations.

Ophthalmic genetics
2016

Cytoskeletal Linker Protein Dystonin Is Not Critical to Terminal Oligodendrocyte Differentiation or CNS Myelination.

PloS one
2017

A Unique Case of Bilateral Microphthalmia That May Be Related to 14q32.33.

Ophthalmic plastic and reconstructive surgery
2015

Nondecussating retinal-fugal fiber syndrome: Clinical and neuroimaging clues to diagnosis.

Indian journal of ophthalmology
2015

Traumatic panhypopituitarism resulting in acute adrenal crisis.

The journal of trauma and acute care surgery
2015

Congenital optic tract hypoplasia.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2016

PERIPHERAL AVASCULAR RETINA WITH DISK ANOMALY AND HIGH MYOPIA: A Novel Association in a Hereditary Isolated Ocular Disorder.

Retina (Philadelphia, Pa.)
2015

Unusual association of keratoconus with situs inversus and micronystagmus.

BMJ case reports

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Doenças relacionadas

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Ainda não achamos doenças com sintomas parecidos o suficiente.

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.

  1. Optic neuropathies induced by immune checkpoint inhibitors: A case series and systematic review of the literature.
    European journal of cancer (Oxford, England : 1990)· 2026· PMID 41759413mais citado
  2. PCR-Confirmed Bilateral Varicella Zoster Virus Anterior Uveitis in an Immunosuppressed Young Adult.
    Ocular immunology and inflammation· 2026· PMID 41489923mais citado
  3. SWEPT SOURCE OPTICAL COHERENCE TOMOGRAPHY IMAGING OF THE OPTIC PIT COMPLEX.
    Retina (Philadelphia, Pa.)· 2026· PMID 40924907mais citado
  4. Developmental, Endocrine, and Ophthalmologic Outcomes in Children Prenatally Diagnosed With Midline Brain Malformations.
    Pediatric neurology· 2025· PMID 40228397mais citado
  5. Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.
    Brain communications· 2025· PMID 39963288mais citado
  6. SPG7-Related Neurologic Disorder.
    · 1993· PMID 20301286recente
  7. Correlation between retinal nerve fibre layer thickness and tumour volume in patients with optic pathway gliomas.
    Int Ophthalmol· 2025· PMID 40650673recente
  8. The Prevalence of Septo-Optic Dysplasia in Neonates with Absent Cavum Septi Pellucidi Identified during Routine Prenatal Imaging.
    Am J Perinatol· 2025· PMID 39837560recente
  9. Isolated optic nerve relapse in T-cell acute lymphoblastic leukaemia.
    Pract Neurol· 2025· PMID 39578071recente
  10. Treatment of isolated pediatric optic nerve glioma: A nationwide retrospective cohort study and systematic literature review on visual and radiological outcome.
    Pediatr Blood Cancer· 2024· PMID 39380191recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:637064(Orphanet)
  2. MONDO:0958342(MONDO)
  3. Busca completa no PubMed(PubMed)
  4. 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.

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Compêndio · Raras BR

Aplasia isolada do nervo óptico

ORPHA:637064 · MONDO:0958342
Prevalência
<1 / 1 000 000
Casos
3 casos conhecidos
CID-10
Q07.8 · Outras malformações congênitas especificadas do sistema nervoso
CID-11
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C5816782
Wikipedia
DiscussaoAtiva

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