Manifestations of GCA 233 1332 Anterior Ischemic Optic Neuropathy 234 1333 Other Types of Ischemic Visual Loss 235 1335 Orbital Manifestations 236 1343 LargeVessel Vasculitis 237 135 Laboratory Investigations in GCA 238 1352 CReactive Protein 239 1355 Anemia [books.google.com]

1 2 Diamond-Blackfan Anemia 10 2 Diamond-Blackfan Anemia 11 2 Diamond-Blackfan Anemia 12 2 Diamond-Blackfan Anemia 3 2 Diamond-Blackfan Anemia 4 2 Diamond-Blackfan Anemia 5 2 Diamond-Blackfan Anemia 6 2 Diamond-Blackfan Anemia 7 2 Diamond-Blackfan Anemia [preventiongenetics.com]

【貧血】 alimentary anemia【栄養性貧血】 aplastic anemia【再生不良性貧血】 hemolytic anemia【溶血性貧血】 hypochromic anemia【低色素性貧血】 iron deficiency anemia【鉄欠乏性貧血】 normocytic anemia【正球性貧血】 nutritional anemia【栄養性貧血】 osteosclerotic anemia【骨硬化性貧血】 pernicious anemia【悪性貧血】 refractory [medo.jp]

Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). Human Molecular Genetics 8, 743-749. [mitomap.org]

Cone dystrophy 3/Cone rod dystrophy GUCA1B dominant retinitis pigmentosa; dominant macular dystrophy GUCY2D Cone rod dystrophy, Leber congenital amaurosis HARS Usher syndrome HCN1 Cone rod dystrophy HGSNAT recessive retinitis pigmentosa HK1 Hemolytic anemia [molecularvisionlab.com]

1243 JC Virus and Progressive Multifocal Leukoencephalopathy 221 1244 Herpetic Encephalopathy and Acute Retinal Necrosis Syndrome 222 Giant Cell Arteritis 226 1312 Triggering Event 228 1314 Macrophage Recruitment and Vascular Injury 229 1315 Systemic Inflammation [books.google.com]

Patient education and home monitoring with an Amsler grid are also important for early intervention and management to prevent irreversible vision damage. 35-36 Optic Neuritis Optic neuritis is inflammation of the optic nerve. 37 Occasionally, this inflammation [reviewofoptometry.com]

Other causes include corneal inflammation, some medications, and eye injuries. Severe photophobia can be quite painful, even in relatively dim light. [tsbvi.edu]

The most important differential diagnosis is ischaemia, bleeding or inflammation of the brain stem. [patient.info]

【炎症】 acute inflammation【急性炎症】 catarrhal inflammation【カタル性炎】 chronic inflammation【慢性炎症】 *influenza【インフルエンザ】 *influenza-associated encephalopathy【インフルエンザ脳症】 *infraversion【低位】 *infundibular pulmonary stenosis【肺動脈漏斗部狭窄】 *inhalation pneumonia【吸入性肺炎 吸引性肺炎】 [medo.jp]

This richly illustrated, full color text covers areas such as: malformations; refractive errors, the cornea, glaucoma and cataracts; retina and the optic nerve; eye movement disorders, and systemic disease of the eye. [books.google.com]

A large Australian family has been described in which maternal family members developed optic neuropathies, spasticity, movement disorders, psychiatric disturbances, and acute encephalopathic episodes. [slideplayer.com]

Most congenital nystagmus is neurological in origin, although other important causes include albinism, congenital cataracts, eye movement disorders and very high myopia or astigmatism. [patient.info]

A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia. Neurology 1989 ; 39 : 595 –7. Costeff H, Elpeleg O, Apter N, Divry P, Gadoth N. 3-Methylglutaconic aciduria in “optic atrophy plus”. [jmg.bmj.com]

Neurologic abnormalities such as postural tremor, peripheral neuropathy, nonspecific myopathy, and movement disorders have been reported to be more common in individuals with LHON than in controls. [ncbi.nlm.nih.gov]

These include criteria for the diagnosis of multiple sclerosis, dementia of Lewy-body type, frontal lobe dementias, chronic fatigue syndrome, and inflammatory neuropathies. [books.google.com]

Monocular vision Reduced visual field Reduced depth perception May develop blindness in one eye Reduced visual-motor abilities Eye fatigue with close or detailed work Frequent breaks Seating should favor functional eye. [tsbvi.edu]

Fatigue and stress can make nystagmus worse. Maximising functional vision In most children with nystagmus, a spectacle or lens prescription improves vision significantly. [patient.info]

Patients manifest with ptosis and ophthalmoplegia, easy fatiguability, and facial, bulbar, neck and limb weakness, or respiratory insufficiency. [reviewofophthalmology.com]

Loss of contrast sensitivity and eye fatigue are frequently reported. Myopia varies among distinct subtypes of RP, an increased prevalence being noted in X-linked RP. Fundus findings: Fundus findings depend on the stage of retinal deterioration. [institut-vision.org]

199 Chorioretinal Lesions in Infectious Diseases of Neuroophthalmic Interest 205 121 Introduction 206 ofToxoplasmosis in Immunocompetent Patients 207 12213 OphthalmicToxoplasmosis in AIDS Patients 209 1222 Toxocariasis 210 12233 Lyme Disease 211 1224 Cat [books.google.com]

Cat-scratch fever causes a typical neuroretinitis which needs to be differentiated from all other forms of optic neuropathy: MS, Behçet disease, hypertensive retinopathy, ischemic optic neuropathy, CNS vasculitis and viral meningitis. [neuroweb.us]

Impairment 311 175 Rehabilitation Programs 312 1752 Visual and Other Aids in Spatial Orientation Problems 313 1753 Training 314 17532 Training for Patients with Homonymous Field Defects 315 1754 Counseling Regarding Public Support 316 Subject Index 320 [books.google.com]

Patient IV.6, a female born in 1953, had visual impairment from early infancy. The diagnosis of optic atrophy was made in infancy and she received special education for visually impaired children. [jmg.bmj.com]

The visual impairment is usually moderate (6/10 to 2/10), but ranges from severe (legal blindness with acuity The vision loss is occasionally asymmetric. [ncbi.nlm.nih.gov]

Repeated and prolonged infection causes permanent visual impairment and blindness. Trachoma is spread through direct contact with secretions from the eyes, eyelids, or nose of an infected person. [tsbvi.edu]

Other investigators, however, do not confirm the correlation between visual impairment and genetic subtype. References Berson EL : Management of retinitis pigmentosa. [institut-vision.org]

Eye Movements 263 1442 NonNystagmic Abnormal Eye Movements 264 Chronic Progressive External Ophthalmoplegia A Common Ocular Manifestation of Mitochondrial Disorders 267 152 Clinical Features 268 153 Genetics 270 1533 Defects of Intergenomic Communication [books.google.com]

Involuntary or abnormal eye movements cause excessive motion of images on the retina, without a corresponding efference copy (or corollary discharge), leading to blurred vision and to the illusion that the seen world is moving (oscillopsia). [patient.info]

Due to Viral and NonConventional Agents 220 1243 JC Virus and Progressive Multifocal Leukoencephalopathy 221 1244 Herpetic Encephalopathy and Acute Retinal Necrosis Syndrome 222 Giant Cell Arteritis 226 1312 Triggering Event 228 1314 Macrophage Recruitment [books.google.com]

[ii] NDUFAF3 612911 Assembly 3p21.31 AR Neonatal encephalopathy [iii] NDUFAF4 (HRPAP2) 611776 Assembly 6q16.1 AR Infantile encephalopathy [iv] NDUFAF5 (C20orf7) 612360 Assembly 20p12.1 AR LS [v] NDUFAF6 612392 Assembly 8q22.1 AR LS [vi] NUBPL 613621 [mitomap.org]

Encephalopathy, Early Infantile, 19 1 Epileptic Encephalopathy, Early Infantile, 2 7 Epileptic Encephalopathy, Early Infantile, 21 1 Epileptic Encephalopathy, Early Infantile, 23 1 Epileptic Encephalopathy, Early Infantile, 24 5 Epileptic Encephalopathy [preventiongenetics.com]

Subacute necrotizing encephalopathy ( SNE ) or Leigh disease : Several synonyms exist such as Leigh necrotizing encephalopathy, subacute necrotizing encephalopathy, Leigh syndrome and necrotizing, encephalomyelopathy of Leigh. [neuroweb.us]

Uncommonly, major neurological abnormalities may occur with LHON, and the disorders in these patients or pedigrees have been termed “Leber Plus”( basal ganglionic degeneration with early-onset dystonia, spasticity, psychiatric disturbances, and encephalopathy [slideplayer.com]

Coenzyme Q Deficiency 273 154 Diagnostics 274 1541 Myohistological Investigations 275 155 Treatment 276 1552 Symptomatic Treatment 277 156 Differential Diagnosis 278 1563 Congenital Fibrosis of the Extraocular Muscles 279 Treatment of Specific Types of Nystagmus [books.google.com]

Physiological nystagmus This is normal nystagmus, occurring after 6 months of age. It includes end-point and optokinetic nystagmus. End-point nystagmus is the nystagmus associated with extreme positions of gaze. [patient.info]

Nystagmus can be increased by stress, spinning, and rhythmic movements. [tsbvi.edu]

[…] recessive - - 2y motor delay; speech delay; proximal weakness runs - Johan den Dunnen 00064055 0000050571 muscle weakness, proximal, early onset; currently ambulant; chorea; no dystonia; paroxysmal ataxia; short stature; normal skin; no microcephaly; nystagmus [databases.lovd.nl]

Patient IV:2 had evidence of a right exotropia and bilateral horizontal nystagmus. Neither patient had any evidence of residual color vision. Examination of the anterior segment was normal in both patients. [molvis.org]

Entries on cerebellar diseases, peripheral neuropathies, various dementias, diagnostic tests (both clinical and laboratory), forms of cerebral edema, dissociative signs and syndromes - all these and many more have been added, expanded, updated or clarified [books.google.com]

Charcot-Marie-Tooth Disease-5 Charcot-Marie-Tooth disease-5 (CMTX5) is defined by peripheral neuropathy, early-onset sensorineural hearing impairment, and optic atrophy. [egl-eurofins.com]

Progressive cerebellar ataxia, hyperreflexia, peripheral neuropathy and cardiac conduction abnormalities are also common findings. Fluorescein angiography may help distinguishing the LHON optic disc from true disc edema. ERG, and CSF are normal. [neuroweb.us]

In complicated cases of autosomal dominant optic atrophy, in addition to bilateral optic neuropathy, several other neurological signs of neurological involvement can be observed: peripheral neuropathy, deafness, cerebellar ataxia, spastic paraparesis, [en.wikipedia.org]

Neurologic abnormalities such as postural tremor, peripheral neuropathy, nonspecific myopathy, and movement disorders have been reported to be more common in individuals with LHON than in controls. [ncbi.nlm.nih.gov]

Manifestations 215 12313 Diagnostic Tests 216 12322 HIV Retinopathy 217 12323 CMV Retinitis 218 Encephalopathies Due to Viral and NonConventional Agents 220 1243 JC Virus and Progressive Multifocal Leukoencephalopathy 221 1244 Herpetic Encephalopathy [books.google.com]

manifestations, with females being unaffected. [orpha.net]

Some of the metabolic disorders have no neurological manifestations at all (e.g. glycogen storage disorders). Acquired metabolic disorders are relatively frequent in neonates receiving intensive care. [mrineonatalbrain.com]

Because some patients with MIRAS have presented with ataxia or epilepsy already in childhood, these investigators searched for POLG1 mutations in neurologic manifestations in childhood. [aetna.com]

Progressive External Ophthalmoplegia A Common Ocular Manifestation of Mitochondrial Disorders 267 152 Clinical Features 268 153 Genetics 270 1533 Defects of Intergenomic Communication with Multiple Deletions of mtDNA 271 1534 Point Mutations of mtDNA [books.google.com]

Chronic progressive external ophthalmoplegia (CPEO) and Kearns-Sayre syndrome (KSS) are common mitochondrial syndromes that present with chronic, progressive, bilateral and mostly symmetric ophthalmoplegia and ptosis, with or without optic atrophy, and [reviewofophthalmology.com]

Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO). [ncbi.nlm.nih.gov]

Some individuals display features that fall into distinct syndromes such as chronic progressive external ophthalmoplegia (CPEO), Kearns‐Sayre syndrome (KSS), Leber hereditary optic neuropathy (LHON), Leigh syndrome (LS), mitochondrial encephalomyopathy [aetna.com]