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55 Possible Causes for Optic Disc Pallor, Pupillary Abnormality, Spastic Dystonia

  • 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] A relative afferent pupillary defect (RAPD) is a hallmark of unilateral afferent sensory abnormality or bilateral asymmetric visual loss.[homeopathyworldcommunity.ning.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]

  • 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] Other clinical features include the early impairment of colour perception but, more importantly, pupillary reflexes are preserved and patients usually report no pain on eye[jmg.bmj.com] A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.[ncbi.nlm.nih.gov]

  • Optic Neuropathy

    , and (f) development of optic disc pallor, usually within 6-8 weeks.[webeye.ophth.uiowa.edu] Common Pupillary Abnormalities Finding Explanation Asymmetry of 1–2 mm between pupils, preserved light responses, and no symptoms Normal variant (physiologic anisocoria) Asymmetry[merckmanuals.com] Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.[jmg.bmj.com]

  • 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] When optic neuritis is present, the pupil always appears abnormal (afferent pupillary defect).[allaboutvision.com] 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] The pupillary response to light was abnormal. Visual field examination showed non-characteristic scotomas in the upper hemispheres in both eyes.[journals.plos.org] 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]

  • Neurodegeneration with Brain Iron Accumulation

    Examination of her nervous system showed pallor of both optic discs. She had orofacial dystonia and apraxia for swallowing.[e-ijd.org] Eight of 10 patients who had neuro-ophthalmologic exams had sluggish pupillary reactions with sectoral iris paralysis and patchy loss of the pupillary ruff, similar to bilateral[doi.org] Mutation in the fatty acid 2-Hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia. Am I Hum Genet 2008;83:647-648.[journals.sbmu.ac.ir]

  • 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] [ 37 ], Adie's pupil and abnormal pupillary reflexes have all been described in SLE.[academic.oup.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]

  • 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 B C D E F G H I K L M N O P R S T U V W X Abnormalities, Eye (Eye Abnormalities) Acanthamoeba Keratitis Achromatopsia (Color Vision Defects) Acute Hemorrhagic Conjunctivitides[provisu.ch] dystonia.[genome.jp]

  • Spastic Ataxia with Congenital Miosis

    disc pallor Sensory axonal neuropathy Flexion contracture Limb muscle weakness Progressive spastic paraplegia Scoliosis Motor axonal neuropathy Violent behavior Inertia Exaggerated[mendelian.co] […] function 379.40 Abnormal pupillary function, unspecified 379.41 Anisocoria 379.42 Miosis (persistent), not due to miotics 379.43 Mydriasis (persistent), not due to mydriatics[theodora.com] , Angelman syndrome , Ataxia spastic congenital miosis , Ataxia , Athetosis , Autonomic dysreflexia , Autonomic dystonia , Autosomal recessive spastic paraplegia , Bahemuka[wikidoc.org]

  • Demyelinating Disease

    […] nerves: mild diffuse optic disc edema OD, no pallor OU, cup:disc 0.3 OU Macula: Normal, no exudates or folds OU Vessels: Normal course and diameter, no hemorrhages OU Periphery[eyerounds.org] Movement disorders (dystonia, choreoathetosis and parkinsonism) occur in some patients and are probably related to EPM.[ncbi.nlm.nih.gov] There is periocular eye pain, partial loss of vision in one eye, a recurrence of symptoms with increased body temperature (Uhthoff's phenomenon), and pallor of the optic disc[nursece.com]

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