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949 Possible Causes for Cerebellar Ataxia, Loss of Vision, Progressive Loss of Vision

  • Neuronal Ceroid Lipofuscinosis

    We suggest CLN genes should be considered in the molecular analyses of patients presenting with adult-onset autosomal recessive cerebellar ataxia.[ncbi.nlm.nih.gov] He showed mental retardation and visual impairment in the first decade which gradually developed along with motor dysfunction for over 40 years.[ncbi.nlm.nih.gov] Most childhood forms of NCL are clinically characterized by progressive loss of vision as well as mental and motor deterioration, epileptic seizures, and premature death,[ncbi.nlm.nih.gov]

  • Optic Neuropathy

    […] downward jerk and slow upward return to midposition Ocular bobbing Extensive pontine destruction or dysfunction Gaze overshoot followed by several oscillations Ocular dysmetria Cerebellar[merckmanuals.com] In patients with the arteritic form, the visual impairment is not recovered.[symptoma.com] To avoid progression and loss of vision, we suggest frequent periodic ophthalmological evaluation in patients treated with linezolid.[ncbi.nlm.nih.gov]

  • Boucher-Neuhäuser Syndrome

    We describe two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia, Boucher-Neuhäuser syndrome, a rare but distinct pleiotropic single[ncbi.nlm.nih.gov] Progressive loss of vision, dyschromatopsia, and photophobia are the primary ocular symptoms. Night blindness and constricted visual fields are noted by some patients.[disorders.eyes.arizona.edu] Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhäuser syndrome.[dx.doi.org]

  • Retinitis Pigmentosa

    In such late-onset diseases, including Huntington disease, 4 - 6 late-onset cerebellar ataxia, 7 and hereditary hemorrhagic telangiectasis, 8 age at onset curves are useful[jamanetwork.com] She presented with a history of acute, painless vision loss in her left eye over a period of 10 days.[ncbi.nlm.nih.gov] A 35-year-old man presented with history of painless, progressive loss of vision in the left eye for the past 7 years.[ncbi.nlm.nih.gov]

  • Retinitis

    In such late-onset diseases, including Huntington disease, 4 - 6 late-onset cerebellar ataxia, 7 and hereditary hemorrhagic telangiectasis, 8 age at onset curves are useful[jamanetwork.com] A loss of side vision, or tunnel vision, is also common as RP progresses.[retinaspecialistsnw.com] Retinitis pigmentosa (RP) describes a group of related diseases that tend to run in families and cause a slow but progressive loss of vision.[bostoneyegroup.com]

  • Autosomal Dominant Optic Atrophy

    ataxia autosomal-dominante zerebellare Ataxie {f} [med.] autosomal dominant cerebellar ataxia autosomal-dominante zerebelläre Ataxie {f} [med.] autosomal dominant nocturnal[odge.de] PURPOSE: In contrast to Autosomal dominant optic atrophy (ADOA), acute loss of vision is normally observed in Leber's hereditary optic neuropathy (LHON) patients.[ncbi.nlm.nih.gov] Ophthalmological signs of this 38-year-old woman consisted of (1) bilateral optic atrophy and nystagmus since the first year of life, (2) progressive loss of vision, and ([karger.com]

  • Niemann-Pick Disease Type C1

    ataxia, vertical supranuclear gaze palsy (VSPG), dysarthria, dysphagia, dystonia, seizures, gelastic cataplexy, and psychiatric disorders.[orpha.net] Additional tests such as slit-lamp eye exam to assess vision loss, liver biopsy, MRI and psychometric testing.[secure.ssa.gov] Other neurological abnormalities may be the first apparent symptoms, specifically lack of muscle coordination (cerebellar ataxia).[rarediseases.org]

  • Infantile Neuronal Ceroid Lipofuscinosis

    We suggest CLN genes should be considered in the molecular analyses of patients presenting with adult-onset autosomal recessive cerebellar ataxia.[ncbi.nlm.nih.gov] Progressive loss of vision Progressive vision loss Progressive visual impairment Slowly progressive visual loss Vision loss, progressive Visual loss, progressive [ more ][rarediseases.info.nih.gov] [icd10data.com] Cerebellar Ataxia We suggest CLN genes should be considered in the molecular analyses of patients presenting with adult-onset autosomal recessive cerebellar[symptoma.com]

  • Optic Atrophy

    ataxia, spastic paraparesis and myopathy.[umdf.org] Your child’s teacher of students with visual impairments should perform a functional vision assessment to determine how your child uses his or her vision in everyday life[afb.org] A 36-year-old man presented to the emergency department because of gradual blurring of vision in his right eye over 20 days and progressive loss of vision in the left eye[cmaj.ca]

  • Usher Syndrome

    Retinitis pigmentosa combined with congenital deafness; with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: A clinical and genetico-statistical[revistabiomedica.org] loss of vision.[disabilityarts.online] Usher syndrome is a genetic disorder consisting of progressive loss of vision and hearing.[ncbi.nlm.nih.gov]

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