Neudle.com: optic neuropathy hereditary

Differential
(Click to cross reference)

abducens nerve paralysis

abiotrophy

aciduria

adolescent medicine

adrenoleukodystrophy

adrenoleukodystrophy, carrier

adrenomyeloneuropathy

advances in neurology

adverse drug reaction

alcohol intolerance

alopecia

alternating hemiplegia

alternating hemiplegia of childhood

alternating rapid movement

ammonia

amyloid

amyloid angiopathy, cerebral

amyloidosis

amyloidosis, oculoleptomeningeal, familial

apnea, primary central

auditory evoked brainstem potentials

Babinski sign

basal ganglia

basal ganglia, calcification of

basal ganglia, lesion of

basal ganglia, lesion, bilateral

Bassen-Kornzweig syndrome

battered child syndrome

behavioral disorder

Behr's optic atrophy

biotin deficiency

biotinidase deficiency

bitemporal visual field defect

blindness

blindness, sudden

bone density

bone density, increased

bone marrow transplantation

bulbar palsy, childhood

bulbar palsy, progressive

cachexia

CAG repeats

calcification, intracranial

CAT scan, false negative

cataracts

cerebellar ataxia, children

cerebellar atrophy, primary

cerebral cortical atrophy

cerebral edema

cerebral edema, vasogenic

cerebritis

cerebro hepato renal syndrome

cerebrospinal fluid

cerebrospinal fluid, abnormal

cerebrospinal fluid, elevated protein of

cerebrospinal fluid, lactic acid concentration

cerebrospinal fluid, oligoclonal IgG in

cerebrospinal fluid, protein of

cerebrovascular accident

cerebrovascular accident, multiple

cerebrovascular accident, young adult

chromosomal abnormality

chromosome 19

chronic progressive external ophthalmoplegia

cisternogram, radionuclide

Clinical Pathologic Conference(C.P.C.)

clonus

clubbing of fingers

clubfoot as related to neurologic disease

Cockayne's syndrome

coenzyme Q10 deficiency

color vision

color vision, impaired

coma

compression neuropathy

corpus callosum, hypoplastic

cranial nerve palsies

cranial neuropathy

cranial neuropathy, multiple

craniopharyngioma

cry, weak

crying

cryopyrin-associated periodic syndrome

cryptorchidism

cultured skin fibroblasts

deafness

degenerative diseases of CNS

dementia

dementia, childhood

dementia, thalamic

demyelinating disease

developmental milestones

developmental milestones, loss of

developmental retardation

diabetes insipidus

diabetes mellitus

diabetes mellitus, neurologic manifestations of

diabetes mellitus, ocular complications in

diabetic cranialneuropathies

diagnostic criteria

diplegia, brachial

diplopia

dissociated sensory loss

DNA probes

drug induced neurologic disorders

electroencephalogram, abnormalities of

electromyogram

electron microscopy

electronystagmography

encephalopathy, neonatal

encephalopathy, progressive

enophthalmous

entrapment neuropathy

eye movement, disorders of

eye, pain in

eyes, sunken

facial appearance, abnormal

facial nerve palsy

facial nerve palsy, bilateral

finger nose finger test

flaccid paralysis

flow study, carotid artery

fluorescein angiography

Friedreich's ataxia

frontal bossing

frontal lobe, pathologic signs of

fundus, abnormality of

genetic diagnosis, prenatal

genetic linkage

genetic neurologic disorders

genetic testing

globoid cells

globus pallidus

globus pallidus, lesion of

globus pallidus, lesion of, bilateral

granulomatosis with polyangiitis

growth retardation

Hallervorden Spatz disease

hearing problems in children

hemophagocytic lymphohistiocytosis, cerebromeningeal

hydrocephalus, normal pressure

hydrocephalus, normal pressure in children

hydrocephalus, viral induced

hyperostosis

hyperostosis corticalis generalisata familiaris

hyperreflexia

hypertriglyceridemia

hypertrophic intracranial pachymeningitis

inborn errors of metabolism

inclusion bodies

infantile bilateral striatal necrosis

intellectual deficit

intellectual deterioration

intestinal pseudoobstruction

intracerebral hemorrhage

intracerebral hemorrhage, familial

intracranial hypertension, benign

intracranial pressure, increased

Kearns-Sayre syndrome

Krabbe's disease

kyphoscoliosis, neurologic causes of

kyphosis

lactic acidemia

Laurence-Moon-Bardet-Biedl syndrome

Leber's hereditary optic neuropathy

Leigh's disease

Leigh's disease, adult variety

lenticular nucleus, lesion of, bilateral

leukocyte enzyme abnormality

leukocytosis

leukodystrophy

light-near dissociation, causes of

lymphadenopathy

lysosomal storage disease

memory, impairment of

meningioma

meningismus

meningitis, aseptic

meningitis, carcinomatous

metabolic disorder, primary

metachromatic leukodystrophy

metachromatic leukodystrophy, juvenile

methylmalonic aciduria

microcephaly

misdiagnosis

mitochondrial disease

mitochondrial encephalomyopathy

MNGIE syndrome

molecular genetics

mononeuropathy multiplex

mortality

motor neuron disease

movement disorder

movement disorder, extrapyramidal

movement disorder, hyperkinetic

MRI

MRI, abnormal

MRI, contrast enhanced

MRI, diffusion weighted

MRI, disappearing lesion on

MRI, optic nerve

MRI, spinal cord

mucopolysaccharidoses

multiple sclerosis

multiple sclerosis, differential diagnosis of

multiple sclerosis, familial

muscle atrophy, progressive

muscle biopsy

muscle weakness

muscle weakness, proximal

myasthenia gravis, differential diagnosis

myasthenia gravis, misdiagnosis of

myelitis

myelitis, longitudinal

myopathy, mitochondrial

nerve conduction studies

neuroaxonal dystrophy

neuroendocrinology

neurolipidosis IV

neurologic complications of, systemic cancer

neurologic complications of, systemic disease

neurologic disease, diagnoses of

neurologic examination

neurologic signs

neuromyelitis optica (Devic's disease)

neuromyelitis optica spectrum disorder

neuromyelitis optica, IgG

neuronal ceroid-lipofuscinosis

neuroophthalmology

neuropathology

neuropathology, brain

neuropathy

neuropathy, ataxia, retinitis pigmentosa

neuropathy, demyelinating

neuropathy, hereditary peripheral

neuropathy, peripheral

neuropathy, vasculitic, systemic

neutropenia

night blindness

normal

nutritional deficiency

nystagmus

nystagmus, monocular

nystagmus, rotary

nystagmus, upbeating-in primary position of gaze

nystagmus, vertical

obesity

ophthalmoplegia

ophthalmoplegia, progressive external

opisthotonus

optic ataxia

optic atrophy

optic atrophy, bilateral

optic atrophy, hereditary

optic chiasm

optic chiasm, enlarged

optic chiasm, lesion of

optic disc cup

optic disc edema

optic foramina

optic foramina, abnormal

optic glioma

optic nerve

optic nerve, compression of

optic nerve, enhancement

optic nerve, enlarged

optic nerve, lesion of

optic nerve, neoplasm of

optic neuritis

optic neuritis, bilateral

optic neuritis, treatment of

optic neuropathy

optic neuropathy, bilateral

optic neuropathy, hereditary

optic neuropathy, ischemic

optic neuropathy, nutritional

optic neuropathy, toxic

optic tract, lesion of

optical coherence tomography

osteopetrosis

owl's eye sign of spinal cord

paraparesis, familial spastic

paraparesis, spastic

paraplegia

Parkinson disease

Parkinson disease, dystonia with

Parkinsonism syndrome

paroxysmal hemiplegia

paroxysmal neurologic deficits

PAS positive material in the brain

photosensitivity, skin

pigmentary retinopathy

pleocytosis of cerebrospinal fluid

polyneuropathy

polyneuropathy, familial

posterior leukoencephalopathy syndrome

precipitating factors

pregnancy, neurologic complications in

prenatal diagnosis by amniocentesis

pretectal syndrome

prisoners of war, neurologic complications in

prognathism

prognosis

progressive neurologic disorder

propionic aciduria

psychiatric problems in neurologic disorders

psychological testing

psychological testing, children

psychological testing, neurologic problems

psychomotor retardation

psychosis

ptosis

pupil, abnormality in neurologic disorders

pupil, light reflex, abnormal

Purkinje cell

pyramidal tract

pyramidal tract dysfunction

pyruvate metabolism, abnormality of

quadriparesis

quadriplegia

ragged-red fibers

rapid onset dystonia parkinsonism

rapidly progressing neurologic illness

red free light, fundus exam with

retinal nerve fiber layer

retinal vasculitis

retinal vasculopathy

retinal vasculopathy with cerebral leukodystrophy

sedimentation rate, elevated

seizure

seizure, children

seizure, neonatal

sensorineural hearing loss

sensory loss

short stature

skin, biopsy

skin, lesions in neurologic disorders

skull bone, thickening

skull x-ray, abnormal

spastic diplegia

spasticity

speech disorder

speech disorder, childhood

speech, loss of

spinal cord

spinal cord, compression of

spinal cord, lesion of

spinal cord, pathologic exam of

spinocerebellar ataxia

spinocerebellar ataxia type 1

spinocerebellar ataxia type 7

spinocerebellar degeneration

spinopontine atrophy, dominant

splenomegaly

spongy degeneration of brain

startle myoclonus

startle reaction

status epilepticus

stem cell transplantation

steroid therapy, CNS treatment and complications with

stooped posture

striatonigral degeneration

striatonigral degeneration, infantile

striatum, lesion of

striatum, lesion of, bilateral

strokelike episodes

subarachnoid hemorrhage

symmetric brain lesions

syndactyly

systemic illness

Tangier's disease

tapetoretinal degeneration

treatment of neurologic disorder

tremor

tremor, intention

trigeminal nerve, lesion of

trigeminal neuropathy

trinucleotide repeats

umbilical-cord blood transplantation

upgaze, paralysis of

urea-cycle enzymopathies

urinary incontinence

urine test for metabolic disorders

Usher's syndrome

uveitis

vestibular function, tests of

viral infection, CNS

vision loss, sequential

vision, blurred

vision, failure of in childhood

visual acuity

visual acuity, decreased

visual acuity, decreased, monocular

visual evoked response

visual field defect

visual impairment

visual loss

visual loss, progressive

walking, difficulty with

war

water channel antibodies

white matter disease, subcortical

Wolfram syndrome

Showing articles 50 to 100 of 5705 << Previous Next >>

A Defect in Mitochondrial Electron-Transport Activity in Leber's Hereditary Optic Neuropathy
NEJM 320:1331-1333, Parker,W.D.,et al, 1989

Mitochondrial DNA and Genetic Disease
Editorial, Lancet 1:250-2511989., , 1989

MR Imaging of a Group I Case of Hallervorden-Spatz Disease
J Comput Assist Tomogr 12:851-853, Mutoh,K.,et al, 1988

Familial Oculoleptomeningeal Amyloidosis, Report of a New Family with Unusual Features
Arch Neurol 45:1118-1122, Uitti,R.J.,et al, 1988

Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988

Ocular Complications of Tangier Disease
Am J Med 83:991-994, Pressley,T.A.,et al, 1987

Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985

Familial Multisystem Atrophy with Possible Thalamic Dementia
Neurol 34:1213-1217, Katz,D.A.,et al, 1984

Clinicopathological Conference Metachromatic Leukodystrophy (juvenile type)
Case 7-1984, NEJM 310:445-4551984., , 1984

Sclerosteosis:Neurogenetic & Pathophysiologic Analysis of an American Kinship
Neurol 33:267-277, Stein,S.A.,et al, 1983

Bilateral Optic Neuropathy with Remission in Young Men, Variation on a Theme by Leber
Arch Neurol 40:2-6, Lessell,S.,et al, 1983

Clinicopathological Conference
Maroteaux-Lamy Syndrome, Case 44-1983, NEJM 309:1109-1117983., , 1983

Two Cases of Van Buchem's Disease
JNNP 45:913-918, Dixon,J.M.,et al, 1982

Ophthalmoscopy of the Retinal Nerve Fiber Layer
Arch Neurol 39:226-233, Newman,N.M.,et al, 1982

Progressive Pontobulbar Palsy With Deafness
Arch Neurol 38:186-190, Brucher,J.M.,et al, 1981

Optic Neuritis in Familial MS
Neurol 31:1138-1142, Ebers,G.C.,et al, 1981

Olivopontocerebellar Atrophy in Children:A Report of Seven Cases in Two Families
Ann Neurol 10:355-363, Colan,R.V.,et al, 1981

Neurological Disease In Ex-Far-East Prisoners Of War
Lancet 2:135-137, Gibberd,F.B.,et al, 1980

Osteopetrosis, Renal Tubular Acidosis & Basal Ganglia Calcification in Three Sisters
Am J Med 69:64-74, Whythe,M.P.,et al, 1980

Leber's Optic Neuropathy
Editorial, BMJ 280:1097-10981980., , 1980

Juvenile Metachromatic Leukodystrophy
Arch Neurol 37:42-46, Haltia,T.,et al, 1980

A Family with Hereditary Ataxia:HLA Typing
Neurol 30:12-20, Nino,H.E.,et al, 1980

Familial Subacute Necrotizing Encephalomyelopathy of the Adult Form (Adult Leigh Syndrome)
Ann Neurol 6:200-206, Kalimo,H.,et al, 1979

Dominant Spinopontine Atrophy
Arch Neurol 35:156, Pogacar,S.,et al, 1978

Normal Pressure Hydrocephalus, Recog & Relation to Neuro Abnormalities in Cockayne's Sydrome
Arch Neurol 35:337, Brumback,R.A.,et al, 1978

Clinical & Extraneural Histologic Diagnosis of Neuronal Ceroidlipofuscinosis
Neurol 28:1008-1012, Miley,C.E.III.,et al, 1978

Juvenile Diabetes Mellitus & Optic Atrophy
Arch Neurol 34:759, Lessell,S.,et al, 1977

Leigh's Syndrome:The Adult Form of Subacute Necrotizing Encephalomyelopathy with Predilection for the Brainstem
Neurol 23:1030, Sipe,J.C., 1973

Dominant Juvenile Optic Atrophy
Arch Ophthalmol 85:133, Caldwell,J.,et al, 1971

Progressive Headache and Diplopia in an 89-Year-Old Man
Neurol 104:e213660, Riand,M.,et al, 2025

A 60-Year-Old Man with Weakness and Gait Dysfunction
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025

A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
Neurol 104:e210290, Voloshyna-Farber, E.Y.,et al, 2025

Black Turbinate Sign as an Early Clue of Rhino-Orbital-Cerebral Mucormycosis
Neurol 104:e210202, Xie,J.S.,et al, 2025

Orbital Apex Syndrome Associated with Herpes Zoster Ophthalmicus
Neurol 104:e213387, Imamura,D.,et al, 2025

A 57-Year-Old Man With Chronic Gait Unsteadiness and Diminished Lower Extremity Sensation
Neurol 104:e213713, Rawat,R.,et al, 2025

A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
Neurol 105:e213993, Shen,F.,et al, 2025

A 27-Year-Old Man with Progressive Bilateral Vision Loss Resistant to Steroid Therapy
Neurol 105: e213897, Zhang,W.,et al, 2025

Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia
Neurol 104:e210253, Chadha,D.,et al, 2024

Expanding Clinical Spectrum an Anti-GQ1b Antibody Syndrome, A Review
JAMA Neurol 81:762-770, Lee,S-U.,et al, 2024

Clinicopathologic Conference, Nutritional Optic Neuropathy Due to Multiple Nutritional Deficits, Including Vitamin A, Copper, and Zinc Deficiencies
NEJM 391:641-650, Gaier,E.D.,et al, 2024

Validation of the 2023 International Diagnostic Criteria for MOGAD in a Selected Cohort of Adults and Children
Neurol 103:e209321, Varley,J.A.,et al, 2024

Intracranial Hypertension Associated with Poly-Cranio-Radicular-Neuropathies A Case Report and Review of the Literature
Neurologist 29:166-169, Eaton,J.E.,et al, 2024

Behcets Syndrome
NEJM 390:640-651, Saadoun,D.,et al, 2024

Clinicopathologic Conference, Myeloperoxidase antineutrophil cytoplasmic antibody-associated vasculitis
NEJM 390:843-851, Case 7-2024, 2024

MR Restricted Diffusion in Anterior Ischemic Optic Neuropathy in Giant Cell Arteritis
J Neuro--Ophthalmol 44:e176-e177, Finelli,P.F. & Nouh,A.H., 2024

The Optic Nerve Should Graduate to Be the Fifth Lesion Site for the Diagnosis of Multiple Sclerosis
Neurol 102:e207919, Galetta,S. & Brownlee, W., 2024

Idiopathic Orbital Inflammation and Tolosa-Hunt Syndrome with Intracranial Extension
Neurol 101:371-374, Yu,S. & Chen,T., 2023

Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD):Clinical Features and Diagnosis
www.UptoDate.com, Sept, Flanagan,E.P. & Tillema,J-M, 2023

IgG4-Related Orbital Inflammation
https://EyeWiki.org, Oct, Chelnis,J. & Gervasio,K.A., 2023

Neuromyelitis Optica: A Case Report From a Radiological Perspective
Cureus doi:10.7759/cureus.38945, Rentiya,Z.S.,et al, 2023

Showing articles 50 to 100 of 5705 << Previous Next >>