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582 Possible Causes for Progressive Loss of Vision, Severe Hypotonia

  • Neuronal Ceroid Lipofuscinosis

    Hypotonia-cerebral atrophy-hyperglycinemia syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Hypotrichosis - congenital ichthyosis Hypotrichosis - lymphedema[] 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,[] The juvenile form of neuronal ceroid lipofuscinosis (JNCL) is caused by mutations in the CLN3 gene, and is characterized by progressive loss of vision and development of motor[]

  • Neonatal Adrenoleukodystrophy

    All patients had abnormal facial features, moderate to severe hypotonia, hepatomegaly, and retinitis pigmentosa.[] Refsum disease is characterized by progressive loss of vision (retinitis pigmentosa); degenerative nerve disease (peripheral neuropathy); failure of muscle coordination (ataxia[] Moderate to severe hypotonia and liver hypertrophy are also described.[]

  • Zellweger Syndrome

    It is characterized by severe hypotonia, failure to thrive, psychomotor retardation, liver dysfunction, and sensorineural hearing impairment.[] Patients can also show postdevelopmental sensorineuronal degeneration that leads to a progressive loss of hearing and vision. [4] Zellweger syndrome can also affect the function[] Visual changes and vision loss are progressive. Sensorineural hearing loss may be present.[]

  • Optic Atrophy

    Abstract We report the clinical and biochemical findings from two unrelated patients who presented with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia[] 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[] To identify the underlying genetic cause in a patient with intractable seizures, optic atrophy, severe intellectual disability (ID), brain abnormalities, and muscular hypotonia[]

  • Glaucoma

    […] and subsequent vision loss. 12-14 In particular, central corneal thickness has also been shown to be associated with disease progression in open-angle glaucoma, 15 which[] Treatment in glaucoma aims to lower intraocular pressure (IOP) to reduce the risk of progression and vision loss.[] […] and vision loss.[]

  • Autosomal Recessive Osteopetrosis Type 7

    In this context, several patients have been reported to suffer from hypotonia and seizures, cardiac and respiratory arrest.[] […] visual loss Progressive loss of vision Progressive vision loss Progressive visual impairment Slowly progressive visual loss Vision loss, progressive Visual loss, progressive[] Once case of fatal adrenal hemmorhage. [89] Hypotonia (generalized or tructal) with increasing severity. Gross motor delay and developmental delay, avascular necrosis.[]

  • Infantile Neuroaxonal Dystrophy 1

    The classic form begins before age three with hypotonia, progressive psychomotor delay and symmetric pyramidal tract signs (strabismus, nystagmus and optic atrophy).[] loss of vision and of physical and mental skills.[] It affects axons, the part of a nerve cell that carries messages from the brain to other parts of the body, and causes progressive loss of vision, muscular control, and mental[]

  • Infantile Neuroaxonal Dystrophy

    We report a child carrying a homozygous mutation in the PLA2G6 gene with neonatal onset of disease and somewhat different clinical phenotype such as severe congenital hypotonia[] The nerve endings responsible for carrying message to other parts of body are affected causing a progressive loss of vision and of physical and mental skills.[] A single individual with neonatal onset has been reported, with severe hypotonia and marked weakness [ Fusco et al 2015 ].[]

  • Retinitis Pigmentosa 26

    MR, profound hypOtonia, "rolling gaze", slow head movement, GI s/s, RP[] RP causes cells in the retina to die, causing progressive vision loss. The first sign of RP usually is night blindness.[] Retinitis pigmentosa is a group of hereditary diseases of the eye that lead to progressive loss of vision due to cells in the retina becoming damaged and eventually dying.[]

  • Neuhauser Syndrome

    Three siblings in the same family and four other sporadic patients were found to have severe mental retardation, hypotonia, seizures, megalocornea (cornea diameter 13 mm)[] Progressive loss of vision, dyschromatopsia, and photophobia are the primary ocular symptoms. Night blindness and constricted visual fields are noted by some patients.[] At 12 years of age, he first noticed progressive loss of vision and photophobia in both eyes. The best-corrected visual acuity was 20/200 bilaterally.[]

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