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1,617 Possible Causes for Circumpapillary Telangiectatic Microangiopathy, Optic Disc Pallor, Spastic Dystonia

  • Leber's Hereditary Optic Neuropathy

    The following triad of signs has long since been considered pathognomonic for LHON: Circumpapillary telangiectatic microangiopathy Swelling of the nerve fiber layer around[symptoma.com] Fundoscopic examination showed hyperemic papilla on the right eye and optic disc pallor on the left eye.[ncbi.nlm.nih.gov] A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.[ncbi.nlm.nih.gov]

  • Hereditary Optic Atrophy

    The acute/subacute phase results in profound vision loss and a classic triad on fundoscopic examination characterized by circumpapillary telangiectatic microangiopathy, swelling[webeye.ophth.uiowa.edu] There was bilateral optic disc pallor in fundoscopy and his visual accurate was diminished to counting fingers from one meter.[omicsonline.org] dystonia.[genome.jp]

  • Optic Neuropathy

    telangiectatic microangiopathy, and swelling of the retinal nerve fibre layer (fig 1).[jmg.bmj.com] , 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]

  • 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] The disease presented before age 10 with slowly progressive tremor, dystonia, and spasticity.[ncbi.nlm.nih.gov] 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]

    Missing: Circumpapillary Telangiectatic Microangiopathy
  • Mitochondrial Membrane Protein-Associated Neurodegeneration

    Ataxia, deformities, and bulbar dysfunction may be seen. [7] Ophthalmological abnormalities include nystgamus, strabismus, and optic disc pallor, suggestive of optic atrophy[annalsofian.org] Spasticity, more prominent than dystonia, optic atrophy, motor neuropathy, and a slowly progressive course with cognitive decline help to differentiate MPAN from the other[malacards.org] The end stages of MPAN are characterized by severe dementia, spasticity, dystonia, and parkinsonism.[ncbi.nlm.nih.gov]

    Missing: Circumpapillary Telangiectatic Microangiopathy
  • 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] 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] 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]

    Missing: Circumpapillary Telangiectatic Microangiopathy
  • 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] 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] CONCLUSIONS: MPAN is characterized by a juvenile-onset, slowly progressive phenotype with predominant lower limb spasticity, generalized dystonia, and cognitive impairment[ncbi.nlm.nih.gov]

    Missing: Circumpapillary Telangiectatic Microangiopathy
  • 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] 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] Optic disc pallor is one of the defining characteristics of Dominant Optic Atropy.[webeye.ophth.uiowa.edu]

    Missing: Circumpapillary Telangiectatic Microangiopathy
  • 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] SPOAN - Spastic Paraplegia, Optic Atrophy, and Neuropathy ADOA - Autosomal Dominant Optic Atrophy CAMOS - Cerebellar Ataxia with Mental Retardation, Optic Atrophy, and Skin[acronymsandslang.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]

    Missing: Circumpapillary Telangiectatic Microangiopathy
  • 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] ., 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] disc pallor seen in advanced glaucoma is due to a more excavated cup rather than pallor of the neuroretinal rim Temporal Optic Disc Pallor May be observed in traumatic or[decisionmakerplus.net]

    Missing: Circumpapillary Telangiectatic Microangiopathy

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