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Optic AtrophyOptic Atrophy, Autosomal DominantOptic Atrophies, HereditaryAtrophyOptic NerveWolfram SyndromeOptic DiskGTP PhosphohydrolasesOptic Atrophy, Hereditary, LeberMuscular AtrophyOptic NeuritisHereditary Sensory and Motor NeuropathyOptic ChiasmRetinal Ganglion CellsPapilledemaPedigreeOptic Nerve InjuriesMuscular Atrophy, SpinalVision DisordersVisual AcuityDNA, MitochondrialBlindnessOnchocerciasis, OcularEye DiseasesRetinaOptic Lobe, NonmammalianOptic Neuropathy, IschemicMultiple System AtrophyGlutaratesOptic FlowGenes, RecessiveMitochondrial DiseasesDiabetes InsipidusMitochondrial DynamicsMyoclonic Cerebellar DyssynergiaVision, LowMitochondrial ProteinsSyndromeSpinal Muscular Atrophies of ChildhoodElectroretinographyOptics and PhotonicsMutationMicrocephalyVisual FieldsNerve FibersCerebellar AtaxiaColor Vision DefectsMutation, MissenseOptic Nerve GliomaFundus OculiEvoked Potentials, VisualMitochondriaMagnetic Resonance ImagingDNA Mutational AnalysisCodon, NonsenseOptic Nerve DiseasesOlivopontocerebellar AtrophiesConsanguinityGenetic HeterogeneityNADH DehydrogenaseLeigh DiseaseVisual Field TestsGyrate AtrophyDeafnessRetinal DiseasesGenes, DominantHearing Loss, SensorineuralChromosomes, Human, Pair 3Genetic LinkageFounder EffectNeurodegenerative DiseasesIntellectual DisabilityGeographic AtrophyDisease Models, AnimalPhenotypeMembrane ProteinsAbnormalities, Multiple
LeberMuscle atrophySpastic paraplegiaDisordersNeuropathyNeuritisDegenerationRetinalBilateral opticWeaknessOlivopontocerebellarSymptomsLHONNystagmusDefectsMultisystemProteinTerm opticSyndromeCardiomyopathyDrusenProgressesBiochemicalAutosomal recessiveDiseaseDiseasesPosteriorPatientsTypicallyCharacteristicLossOccurOnsetTreatmentProgressive
Leber14
  • hereditary defect, such as in Leber hereditary optic neuropathy (LHON), which predominantly affects males between the ages of 15 and 25. (britannica.com)
  • Leber hereditary optic neuropathy is a condition related to changes in mitochondrial DNA. (wikipedia.org)
  • Mutations in the MT-ND1, MT-ND4, MT-ND4L, and MT-ND6 genes cause Leber hereditary optic neuropathy. (wikipedia.org)
  • It remains unclear how these genetic changes cause the death of cells in the optic nerve and lead to the specific features of Leber hereditary optic neuropathy. (wikipedia.org)
  • Dominant optic atrophy and Leber hereditary optic neuropathy are uncommon inherited disorders that damage the optic nerve, causing vision loss. (msdmanuals.com)
  • Dominant optic atrophy causes gradual slow vision loss over years to decades, while Leber hereditary optic neuropathy causes more rapid vision loss over weeks to months. (msdmanuals.com)
  • Dominant optic atrophy and Leber hereditary optic neuropathy are inherited disorders caused by abnormal genes. (msdmanuals.com)
  • Leber hereditary optic neuropathy is more common among males. (msdmanuals.com)
  • In Leber hereditary optic neuropathy , vision loss usually begins between the ages of 15 and 35. (msdmanuals.com)
  • People who may have Leber hereditary optic neuropathy undergo electrocardiography to assess their heart. (msdmanuals.com)
  • Leber hereditary optic neuropathy is a genetic disease of mitochondrial inheritance characterized by bilateral irreversible vision loss, predominantly affecting males. (biomedcentral.com)
  • We report the first genetically authenticated Sri Lankan case of Leber hereditary optic neuropathy, illustrating its characteristic features of male predominance and variable penetrance. (biomedcentral.com)
  • This case report is intended to increase awareness of Leber hereditary optic neuropathy, and highlights the need to consider this rare diagnosis in the appropriate clinical context. (biomedcentral.com)
  • It also illustrates the phenomena of incomplete penetrance and male predominance, and suggests the possibility of an X-linked gene governing Leber hereditary optic neuropathy disease expression, which warrants further investigation. (biomedcentral.com)
Muscle atrophy2
  • Neurological examination revealed dysarthria, frontal release signs, preserved perception of touch and pain, spasticity of the lower limbs with a scissors gait, and loss of strength and muscle atrophy in the lower limbs and interosseous muscles of the hands. (scielo.br)
  • The mother presented a distal muscle atrophy in the legs, the father was asymptomatic. (fortuneonline.org)
Spastic paraplegia4
  • Clinically and genetically heterogeneous hereditary spastic paraplegia (HSP) is a group of disorders in which primary symptom is insidiously progressive spasticity (rigid muscles) and weakness of the lower limbs. (preventiongenetics.com)
  • Hereditary spastic paraplegia (HSP) is characterized by weakness and spasticity of the lower extremities. (scielo.br)
  • Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of diseases involving weakness and spasticity of the lower extremities combined with additional neurological or non-neurological manifestations ( 1 1 Finsterer J, Loscher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, Stevanin G. Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. (scielo.br)
  • Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. (lookformedical.com)
Disorders7
  • Overview of Optic Nerve Disorders The small photoreceptor cells of the retina (the inner surface at the back of the eye) sense light and transmit impulses to the optic nerve. (msdmanuals.com)
  • Cerebrospinal fluid (CSF) analysis was normal, while his serum did not have detectable anti-MOG or anti-AQP4 antibodies, which was analyzed to rule out the possibility of optic nerve demyelinating disorders. (biomedcentral.com)
  • Available at https://www.ninds.nih.gov/health-information/disorders/olivopontocerebellar-atrophy . (medscape.com)
  • An expanding number of degenerative disorders are associated with mutations in the genes encoding MFN2 and OPA1, including Charcot-Marie-Tooth disease type 2A and autosomal dominant optic atrophy. (centrodinoferrari.com)
  • Macular dystrophies (MDs) are a group of inherited retinal disorders that cause significant visual loss, most often as a result of progressive macular atrophy. (bmj.com)
  • This concept was initially assigned to the hereditary recurrent fevers but now is expanding to a broad number of disorders. (biomedcentral.com)
  • Prion diseases are rare progressive, fatal, and currently untreatable degenerative disorders of the brain (and rarely of other organs) that result when a protein changes into an abnormal form called prion. (merckmanuals.com)
Neuropathy12
  • Patients with symptoms suggestive of inherited optic neuropathy are candidates. (preventiongenetics.com)
  • Optic Atrophy (OA) is the most prevalent inherited optic neuropathy besides Leber's hereditary optic neuropathy (LHON). (preventiongenetics.com)
  • The characteristic profile of a compressive optic neuropathy, such as that caused by ONSM, is usually painless, chronic progressive visual loss that may be accompanied by proptosis. (medscape.com)
  • ON in neuromyelitis optica (NMO) is initially misdiagnosed as ON in MS or other conditions such as Anterior Ischemic Optic Neuropathy (AION) and Leber's disease. (openophthalmologyjournal.com)
  • The term optic neuritis (ON) refers to inflammation of the optic nerve due to many causes, indicated by sub-acute unilateral painful visual loss mostly in a young healthy female and by excluding glaucoma, ON is the most common optic neuropathy in persons under 50 years coming to general ophthalmic practice. (openophthalmologyjournal.com)
  • Charcot-Marie-Tooth disease (CMT) also known as hereditary sensory- motor neuropathies (HMSN) is the most common inherited neuropathy, with a prevalence of 1:2500 [1]. (fortuneonline.org)
  • Non-arteritic anterior ischemic optic neuropathy (NAION) is a common cause of sudden loss of vision, especially in the elderly. (aetna.com)
  • To resolve the controversy over the effectiveness of optic nerve decompression for NAION, the National Eye Institute sponsored the Ischemic Optic Neuropathy Decompression Trial, a multicenter, randomized controlled clinical trial of optic nerve decompression surgery for patients with NAION. (aetna.com)
  • A structured evidence review (Dickersin and Manheimer, 2002) concluded that "[r]esults from the Ischemic Optic Neuropathy Decompression Trial indicate that optic nerve decompression surgery for nonarteritic ischemic optic neuropathy is not effective. (aetna.com)
  • Symptoms include subacute progressive decrease in visual acuity, usually caused by bilateral optic neuropathy and rarely pseudotumor cerebri or optic neuritis. (medscape.com)
  • In the late 1960s, neurophysiologic testing allowed the classification of CMT into 2 groups, one with slow nerve conduction velocities and histologic features of a hypertrophic demyelinating neuropathy (hereditary motor and sensory neuropathy type 1 or CMT1) and another with relatively normal velocities and axonal and neuronal degeneration (hereditary motor and sensory neuropathy type 2 or CMT2). (medscape.com)
  • in others (eg, certain cases of Charcot-Marie-Tooth disease type 1A (CMT1A) and inherited brachial plexus neuropathy [IBPN]/hereditary neuralgic amyotrophy [HNA]), proximal weakness predominates. (medscape.com)
Neuritis6
  • The aim of this review is to summarize the latest information about optic neuritis, its differential diagnosis and management. (openophthalmologyjournal.com)
  • Optic Neuritis (ON) is defined as inflammation of the optic nerve, which is mostly idiopathic. (openophthalmologyjournal.com)
  • According to Optic Neuritis Treatment Trial (ONTT) the first line of treatment is intravenous methylprednisolone with faster recovery and less chance of recurrence of ON and conversion to MS. However oral prednisolone alone is contraindicated due to increased risk of a second episode. (openophthalmologyjournal.com)
  • This article reviews available studies published in English and Spanish regarding optic neuritis, its differential diagnosis and management. (openophthalmologyjournal.com)
  • Typical symptoms of relapses may be referable to demyelinating pathology involving the optic nerves (e.g. optic neuritis), brainstem (e.g. internuclear ophthalmoplegia) or spinal cord (e.g. partial myelitis), although non-specific symptoms referable to the cerebral hemispheres or other brain regions can also occur (Katz Sand and Lublin, 2013). (medscape.com)
  • Encephalitis is a central optic neuritis, optic discs of order vantin online being lucky. (autopawnohio.com)
Degeneration4
  • 1993). The Complicated form of the HSP shows additional neurological signs such as amyotrophy, mental retardation, pigmentary retinal degeneration, optic atrophy, extrapyramidal features, cerebellar ataxia, ichthyosis etc. (preventiongenetics.com)
  • They can develop blindness from a condition called optic atrophy which is the degeneration of the optic nerve until it is no longer functional. (wise-geek.com)
  • The neurologic features are attributable to pathology in the peripheral and optic nerves, posterior and lateral columns of the spinal cord (subacute combined degeneration), and in the brain. (medscape.com)
  • Here, we classify astroglial pathophysiology into (i) reactive astrogliosis, (ii) astroglial atrophy with loss of function, (iii) astroglial degeneration and death, and (iv) astrocytopathies characterised by aberrant forms that drive disease. (bvsalud.org)
Retinal4
Bilateral optic1
Weakness1
  • Clinically, patients present with distal weakness/atrophy, sensory loss and cavus feet. (fortuneonline.org)
Olivopontocerebellar3
  • Care of olivopontocerebellar atrophy (OPCA) is directed to the treatment of symptoms. (medscape.com)
  • At times, olivopontocerebellar atrophy (OPCA) patients may require enteral feeding to decrease the risk of aspiration. (medscape.com)
  • As dysphagia progresses with olivopontocerebellar atrophy (OPCA), a pureed diet or enteral feeding may be required. (medscape.com)
Symptoms2
  • 2011). Other symptoms include central or near central scotomas, tritanopia, variable degree of ptosis, central visual field defects and/or ophthalmalgia and optic nerve pallor. (preventiongenetics.com)
  • It is a hereditary disease affecting children with onset of symptoms before age five. (wise-geek.com)
LHON1
  • There is sometimes recovery of vision in LHON, but it is rarely complete. (britannica.com)
Nystagmus2
  • Rarely, people can also have nystagmus (a rapid jerking movement of the eyes in one direction alternating with a slower drift back to the original position), hearing loss, or both. (msdmanuals.com)
  • Affected individuals usually show global developmental delay or developmental regression, hypotonia, ataxia, dystonia, and ophthalmologic abnormalities, such as nystagmus or optic atrophy. (beds.ac.uk)
Defects1
Multisystem1
  • The phakomatoses have been traditionally defined as a group of hereditary diseases with variable expressivity characterized by multisystem tumors with possible malignant transformation. (hindawi.com)
Protein2
  • The most relevant proteins involved in the mitochondrial fusion process are three GTPase dynamin-like proteins: mitofusin 1 (MFN1) and 2 (MFN2), located in the outer mitochondrial membrane, and optic atrophy protein 1 (OPA1), in the inner membrane. (centrodinoferrari.com)
  • 18] Hereditary protein S deficiency has been associated with DVST in a patient taking oral contraceptives. (symptoma.com)
Term optic2
  • The term optic nerve sheath meningioma (ONSM) does not indicate a definite site of origin. (medscape.com)
  • Secondary ONSMs are much more common than primary ONSMs, but the unqualified term "optic nerve sheath meningioma" ordinarily refers to primary ONSM. (medscape.com)
Syndrome4
  • however, only the 2 subtypes involving mutations of SPG11 and SPG15 are associated with Kjellin's syndrome ( 1 1 Finsterer J, Loscher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, Stevanin G. Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. (scielo.br)
  • Is Leigh syndrome hereditary? (aboutleighsyndrome.com)
  • Unlike the recessively inherited Wolfram syndrome, WFS1 heterozygous variants cause DFNA6/14/38 and wolfram-like syndrome, characterized by autosomal dominant nonsyndromic hearing loss, optic atrophy, and diabetes mellitus. (biomedcentral.com)
  • When using the drug, bronchospasm and withdrawal syndrome rarely occur. (pastaplusrestaurant.com)
Cardiomyopathy1
  • Additional more variable features include optic atrophy, cardiomyopathy, and leukodystrophy. (nih.gov)
Drusen3
Progresses1
  • Diamox, Lasix, corticosteroids), and disc swelling with visual field loss progresses, direct fenestration of the optic nerve sheaths via medial or lateral orbitotomy has been shown to be an effective and relatively simple procedure for relief of papilledema. (aetna.com)
Biochemical1
  • Biochemical features include lactic acidosis and, rarely, rhabdomyolysis. (nih.gov)
Autosomal recessive1
  • Hereditary myopathy with lactic acidosis (HML) is an autosomal recessive muscular disorder characterized by childhood onset of exercise intolerance with muscle tenderness, cramping, dyspnea, and palpitations. (nih.gov)
Disease2
  • Alper's disease is a hereditary disease that affects children. (wise-geek.com)
  • Patients with Alpers' disease rarely survive past ten years old. (wise-geek.com)
Diseases1
  • She is a science writer and an internationally recognized lay expert on canine genetics and hereditary diseases. (workingaussiesource.com)
Posterior2
  • Angioid streaks are typically bilateral and rarely seen outside of the posterior pole. (reviewofoptometry.com)
  • It is caused by infarction of the short posterior ciliary arteries supplying the anterior optic nerve. (aetna.com)
Patients2
  • Initial results of uncontrolled studies suggested that optic nerve sheath decompression was a promising treatment of progressive visual loss in patients with NAION. (aetna.com)
  • The investigators concluded that optic nerve decompression surgery is not an effective treatment for NAION, and in fact, may increase the risk of progressive visual loss in NAION patients. (aetna.com)
Typically2
  • The male-to-female ratio varies between mutations: 3:1 for 3460 G>A, 6:1 for 11778 G>A and 8:1 for 14484 T>C.[citation needed] This typically evolves to very severe optic atrophy and a permanent decrease of visual acuity. (wikipedia.org)
  • brain imaging typically shows cerebellar and brain stem atrophy. (beds.ac.uk)
Characteristic1
  • In the recent years, various authors have proposed that the SWS (and the KTS) should not be classified among other phakomatoses as there is no hereditary pattern or predisposition and the manifestations of both conditions are those of hypertrophy rather than the hyperplasia characteristic to phakomatosis [ 19 ], and there is no malignant transformation [ 11 ]. (hindawi.com)
Loss4
Occur3
  • Meningiomas rarely occur in infants. (medscape.com)
  • Meningiomas rarely occur in children[4] and differ from those in adults and other childhood tumors. (medscape.com)
  • More rarely 'down shoots' can also occur. (bionity.com)
Onset1
  • Onset is often with a sensation of cold, numbness, or tightness in the tips of the toes and then in the fingertips, rarely with lancinating pains. (medscape.com)
Treatment1
  • There is no direct treatment for NAION, although corticosteroids are sometimes used to reduce optic nerve edema. (aetna.com)
Progressive1