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23 Possible Causes for Centrocecal Scotoma, Optic Disc Pallor, Spastic Dystonia

  • Leber's Hereditary Optic Neuropathy

    Fundoscopic examination showed hyperemic papilla on the right eye and optic disc pallor on the left eye.[ncbi.nlm.nih.gov] Results: The presence of centrocecal scotoma, an edematous, hyperemic optic nerve head, and vascular tortuosity, as well as telangiectasia was recognized in affected subjects[ncbi.nlm.nih.gov] A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.[ncbi.nlm.nih.gov]

  • Optic Atrophy

    CONCLUSIONS: Deeply buried ODD may be associated with NAION causing irreversible visual loss and optic disc pallor, a condition easily mistaken for atypical ON.[ncbi.nlm.nih.gov] scotoma, and color vision disturbances.[ncbi.nlm.nih.gov] The disease presented before age 10 with slowly progressive tremor, dystonia, and spasticity.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Optic Atrophy

    These patients typically present in the first decade of life with slightly subnormal acuity, dyschromatopsia, central visual field loss, and optic disc pallor.[practicalreviews.com] scotomas.[disorders.eyes.arizona.edu] Other patients have minor neurologic abnormalities, such as a postural tremor, loss of ankle reflexes, dystonia, spasticity, or a multiple sclerosis–like illness.[merckmanuals.com]

  • Primary Optic Atrophy

    Differential Diagnosis Optic atrophy versus other causes of optic disc pallor: • Pallor of optic disc in partial optic atrophy must be differentiated from other causes of[slideshare.net] scotomas in the perimetry and pseudoedema of the optic disc, followed by optic atrophy.[link.springer.com] Other patients have minor neurologic abnormalities, such as a postural tremor, loss of ankle reflexes, dystonia, spasticity, or a multiple sclerosis–like illness.[merckmanuals.com]

  • Hereditary Optic Atrophy

    There was bilateral optic disc pallor in fundoscopy and his visual accurate was diminished to counting fingers from one meter.[omicsonline.org] A temporal defect and a small fenestration of centrocecal scotoma were evident in the right eye and a large fenestration of centrocecal scotoma and nasal defect were noted[iovs.arvojournals.org] dystonia.[genome.jp]

  • Autosomal Dominant Optic Atrophy and Cataract

    Optic disc appearance of OPA1 -positive two patients showing bilateral prominent temporal wedge of pallor ( upper ) and total disc pallor ( lower ). ( C ) Optic disc appearance[iovs.arvojournals.org] scotoma of variable density.[mybiosource.com] SPOAN - Spastic Paraplegia, Optic Atrophy, and Neuropathy ADOA - Autosomal Dominant Optic Atrophy CAMOS - Cerebellar Ataxia with Mental Retardation, Optic Atrophy, and Skin[acronymsandslang.com]

  • Optic Neuropathy

    , and (f) development of optic disc pallor, usually within 6-8 weeks.[webeye.ophth.uiowa.edu] A temporal defect and a small fenestration of centrocecal scotoma were evident in the right eye and a large fenestration of centrocecal scotoma and nasal defect were noted[iovs.arvojournals.org] Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.[jmg.bmj.com]

  • Secondary Optic Atrophy

    Differential Diagnosis Optic atrophy versus other causes of optic disc pallor: • Pallor of optic disc in partial optic atrophy must be differentiated from other causes of[slideshare.net] scotomas in the perimetry and pseudoedema of the optic disc, followed by optic atrophy.[link.springer.com] ., Genetic and Biochemical Impairment of Mitochondrial Complex I Activity in a Family with Leber Hereditary Optic Neuropathy and Hereditary Spastic Dystonia.[www-personal.umd.umich.edu]

  • Classic Autosomal Dominant Optic Atrophy

    optic disc pallor, visual field and color vision defects.[doctor.am] Treatment Treatment Options: Pharmacologic treatment is aimed at alleviation of specific symptoms such as dystonia and spasticity.[disorders.eyes.arizona.edu] Individuals then proceed into the atrophic phase and are usually legally blind for the rest of their lives with a permanent large centrocecal scotoma.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Deafness 28

    Optic Atrophy 1 Clinical Characteristics Ocular Features: This form of bilateral optic atrophy may have its onset in early childhood with optic disc pallor, loss of acuity[disorders.eyes.arizona.edu] […] ataxias Extrapyramidal Akinesia/rigidity/dystonia: SCA 3, 9, 17, 21 ; 12 (Akinesia) Chorea Early/prominent: DRPLA, 17, 27 ; Rarely SCA 2 Dyskinesia: SCA 27 Myoclonus Common[neuromuscular.wustl.edu] Neuroretinal rim pallor in autosomal dominant optic neuropathy is most pronounced temporally, but usually involves the entire optic disc [ 10 ].[molvis.org]

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