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41 Possible Causes for Nonspecific Myopathy, Optic Disc Pallor

  • Leber's Hereditary Optic Neuropathy

    Systemic Features: A large number of associated neurologic abnormalities have been reported including ataxia, hyperreflexia, nonspecific myopathy, tremors, movement disorders[disorders.eyes.arizona.edu] Fundoscopic examination showed hyperemic papilla on the right eye and optic disc pallor on the left eye.[ncbi.nlm.nih.gov] After subsequent development of bilateral optic disc pallor, we concluded that the patient had LHON. mtDNA analysis was conducted using non-radioisotopic single-strand conformational[ncbi.nlm.nih.gov]

  • Optic Atrophy

    Systemic Features: A large number of associated neurologic abnormalities have been reported including ataxia, hyperreflexia, nonspecific myopathy, tremors, movement disorders[disorders.eyes.arizona.edu] 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] Neurologic abnormalities such as postural tremor, peripheral neuropathy, nonspecific myopathy, and movement disorders have been reported to be more common in individuals with[ncbi.nlm.nih.gov]

  • Autosomal Dominant Optic Atrophy

    Extremely rarely there may be neurologic abnormalities, such as peripheral neuropathy, postural tremor, nonspecific myopathy, and movement disorders.[rarediseases.org] 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] Neurologic abnormalities such as postural tremor, peripheral neuropathy, nonspecific myopathy, and movement disorders have been reported to be more common in individuals with[ncbi.nlm.nih.gov]

  • Autosomal Dominant Optic Atrophy and Cataract

    Neurologic abnormalities such as postural tremor, peripheral neuropathy, nonspecific myopathy, and movement disorders have been reported to be more common in individuals with[ncbi.nlm.nih.gov] 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] Optic disc pallor is one of the defining characteristics of Dominant Optic Atropy.[webeye.ophth.uiowa.edu]

  • Strabismus

    Ocular myopathies Ocular myositis [ 21 ] This is an idiopathic, nonspecific inflammation of one or more of the extraocular muscles, usually presenting early in adult life[patient.info] […] or optic disc pallor.[ncbi.nlm.nih.gov] Nine of 13 patients with congenital optic disc pathologies had esotropia, whereas 10 of 15 patients with optic atrophy or optic disc pallor had exotropia.[ncbi.nlm.nih.gov]

  • Hereditary Optic Atrophy

    Systemic Features: A large number of associated neurologic abnormalities have been reported including ataxia, hyperreflexia, nonspecific myopathy, tremors, movement disorders[disorders.eyes.arizona.edu] There was bilateral optic disc pallor in fundoscopy and his visual accurate was diminished to counting fingers from one meter.[omicsonline.org] Extremely rarely there may be neurologic abnormalities, such as peripheral neuropathy, postural tremor, nonspecific myopathy, and movement disorders.[rarediseases.org]

  • Optic Neuropathy

    Systemic Features: A large number of associated neurologic abnormalities have been reported including ataxia, hyperreflexia, nonspecific myopathy, tremors, movement disorders[disorders.eyes.arizona.edu] , and (f) development of optic disc pallor, usually within 6-8 weeks.[webeye.ophth.uiowa.edu] Two months later, VA was 20/20 OD and hand motions OS, with relative afferent pupillary defect and a pallor of the optic disc in OS.[ncbi.nlm.nih.gov]

  • Oculo-Pharyngo-Distal Myopathy

    nonspecific symptom episodic (metabolic myopathies) constant (inflammatory muscle disorders) more likely to be due to orthopedic or rheumatological disorders 10 Muscle cramp[slideplayer.com] […] childhood with moderate to severe loss of visual acuity, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density ( Votruba et al.,[mendelian.co] The muscle biopsy shows nonspecific features of a myopathy.[clinicalgate.com]

  • Orbital Pseudotumor

    Figure 4 Figure 4; CT scan at 1 year follow up shows resolution of right orbital myopathy Discussion Idiopathic orbital myositis is classified as a subtype of nonspecific[ispub.com] Fundoscopy showed bilateral optic disc pallor. Intraocular pressures were 17.3 mm Hg. A provisional diagnosis of Grave's opthalmopathy was made.[ojoonline.org] Fundoscopy showed bilateral optic disc pallor. Intraocular pressures were 17.3 mm Hg. A provisional diagnosis of Grave′s opthalmopathy was made.[ncbi.nlm.nih.gov]

  • Glycogen Storage Disease due to Phosphoglycerate Mutase Deficiency

    Muscle biopsy reveals a vacuolar myopathy: Vacuoles contain glycogen and show increased acid phosphatase activity.[clinicalgate.com] disc pallor Nephronophthisis Need help with a diagnosis?[mendelian.co] These features are nonspecific, and the diagnosis must be confirmed by enzyme assay either in muscle, fibroblasts, or lymphocytes.[clinicalgate.com]

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