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201 Possible Causes for Optic Disc Pallor, Tay-Sachs Disease

  • 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.[] Retinal storage diseases (eg, Tay-Sachs disease ). Radiation neuropathy. Syphilis .[] Retinal storage diseases (eg, Tay-Sachs disease ). Radiation neuropathy. Syphilis.[]

  • Night Blindness

    disc pallor.[] CANAVAN MALATTIA DI KRABBE MALATTIA DI LEUCODISTROFIA METACROMATICA PELIZAEUS-MERZBACHER MALATTIA DI RFG020 CEROIDO-LIPOFUSCINOSI BATTEN MALATTIA DI KUFS MALATTIA DI RFG030 GANGLIOSIDOSI[] Evidence of optic atrophy with waxy pallor of the disc is usually visible. High myopia ( 6 diopters) is frequently present.[]

  • Foster-Kennedy Syndrome

    The original description of the Foster Kennedy syndrome included the clinical triad of optic disc pallor in one eye, optic disc edema in the other eye, and reduced olfaction[] テイ・サックス Tay-Sachs disease テイ・サックス病 Warren Tay(1843- 1927) British ophthalmologist and Bernard Sachs(1858 - 1944) American neurologist Taylor テーラー Taylor manifest anxietyscale[] An 11-year-old boy with a juvenile nasopharyngeal angiofibroma developed optic disc pallor in one eye and optic disc edema in the other eye (Foster Kennedy Syndrome [FKS])[]

  • 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.[] Retinal storage diseases (eg, Tay-Sachs disease ). Radiation neuropathy. Syphilis.[] 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[]

  • Neuronal Ceroid Lipofuscinosis

    Early changes include defective macular light reflex and optic disc pallor followed by attenuation of vessels, pigmentary retinal changes, degeneration of macula and optic[] […] and also separation of the NCLs from TaySachs disease by Zeman and Donahue.[] One is characterized by grossly abnormal profiles for cerebral sphingolipids and consists of G M1 -gangliosidosis and G M2 -gangliosidosis or Tay-Sachs disease.[]

  • Jalili Syndrome

    Affected individuals commonly suffer from photophobia, nystagmus, achromatopsia, night vision difficulties, optic disc pallor, narrow vessels, macular atrophy with pigment[] 14 Microphthalmia, coloboma - MAB21L2 #615877 TARP SYNDROME Short palpebral fissures, optic atrophy, underdeveloped supraorbital ridges, hypertelorism XLR RBM10 #311900 TAY-SACHS[] Other symptoms affecting vision may include night vision difficulties; optic disc pallor; narrow vessels; macular atrophy with pigment mottling; peripheral deep white dot[]

  • Neuronal Ceroid Lipofuscinosis 2

    1.0 disc diameter from fovea Periphery - pigmentary changes may be present 5 Optic Nerve - severely pallor Severe retinal thinning with generalized loss of photoreceptors[] The third part covers the genetic and clinical aspects of the Tay-Sachs disease.[] Tay Sachs disease Tay-Sachs disease Applies To Amaurotic (familial) idiocy Disease: Batten Jansky-Bielschowsky Kufs' Spielmeyer-Vogt Tay-Sachs Gangliosidosis ICD-9-CM Volume[]

  • Autosomal Recessive Spastic Paraplegia Type 46

    The ophthalmic examination discloses on fundoscopy isolated optic disc pallor or atrophy, related to the RGC death.[] Tangier disease. TAR syndrome. Tay-Sachs disease. Teratogen. Thalidomide embryopathy. Thanatophoric dysplasia. Thoracic Aortic Aneurysms.[] Tay-Sachs disease (GM2 gangliosidosis) Tay-Sachs disease is caused by dysfunction of the enzyme beta-hexosaminidase, encoded by the HEXA gene (15q23), and primarily affects[]

  • Globoid Cell Leukodystrophy

    Signs included pes cavus, optic disc pallor, progressive spastic tetraparesis, a sensorimotor demyelinating neuropathy and hypodense lesions in the parieto-occipital periventricular[] Differential diagnosis Cerebral palsy Congenital rubella Tay-Sachs disease Myotonia congenita Investigations Galactosylceramidase (GALC) enzyme activity - from blood or skin[] […] and Tay Sach's disease [5] , [8] .[]

  • Primary Optic Atrophy

    Optic disc pallor is one of the defining characteristics of Dominant Optic Atropy.[] Retinal storage diseases (eg, Tay-Sachs disease ). Radiation neuropathy. Syphilis .[] DISTROFIE MUSCOLARI DUCHENNE DISTROFIA DI EALES MALATTIA DI EATON-LAMBERT SINDROME DI EPILESSIA MIOCLONICA PROGRESSIVA ERB DISTROFIA DI EREDOPATIA ATASSICA POLINEURITIFORME GANGLIOSIDOSI[]

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