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12 Possible Causes for All Reported Mutations Have Occurred De Novo, Loss of Vision, Pediatric Disorder

  • Optic Atrophy

    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] George's Healthcare NHS Trust, London, UK. 17 VMP Genetics, LLC, Atlanta, Georgia, USA. 18 University of Georgia, Athens, Georgia, USA. 19 Center for Rare Childhood Disorders[ncbi.nlm.nih.gov] Although almost all benign mutations were inherited, the majority of severe mutations occurred de novo.[ncbi.nlm.nih.gov]

  • Cerebro-Costo-Mandibular Syndrome

    The first sign of OPPG is often congenital or infancy-onset vision loss due to abnormal blood vessel development in the eye.[childrenshospital.org] A new familial developmental disorder. Arch Dis Chil 45: 421 Google Scholar 4.[link.springer.com] reported mutations have occurred de novo; Facial dysmorphic features are variable MOLECULAR BASIS: Caused by mutation in the K(lysine) acetyltransferase 6A gene (KAT6A, 601408.0001[findzebra.com]

  • Anophthalmia - Microphthalmia Syndrome

    Both Anophthalmia and Microphthalmia cause visual impairment and can also result in learning difficulties, because the eyes are an extension of brain neural pathway formation[medic8.com] Strongly associated with chromosome abnormalities and single-gene disorders. Karyotype is indicated.[mhmedical.com] All remaining reported cases of SOX2 mutations and deletions have occurred de novo.[molvis.org]

  • Hypopituitarism

    , or voice changes Headaches, blurred vision, or partial loss of vision Cold intolerance or a slow heart rate Weight loss or gain without trying Increased thirst or urination[drugs.com] Bode HH: Disorders of posterior pituitary; in Kaplan SA (ed): Clinical Pediatric Endocrinology. Philadelphia, Saunders, 1990, pp 63–86.[dx.doi.org] All of these mutations occurred de novo and included five nonsense, four frameshift, one deletion and two missense mutations.[web.archive.org]

  • Lissencephaly

    If the child has visual field loss try to place objects in the part of the child's vision that is working. Parents can make a big difference.[ssc.education.ed.ac.uk] These can be classified into pediatric neurological diseases, hereditary diseases affecting sensory organs, mental disorders and late-onset neurodegenerative disorders.[blogs.biomedcentral.com] So far, all mutations in TUBA1A have occurred de novo, resulting in isolated cases.[ncbi.nlm.nih.gov]

  • Helsmoortel-van der Aa Syndrome

    Optical low vision aids for those with significant visual impairment and help with schooling and social support should be provided.[eyewiki.aao.org] Curr Opin Pediatr 14(6):678-83, 2002. 57. Hay BN. Deletion 22q11: spectrum of associated disorders. Semin Pediatr Neurol 14(3):136-9, 2007. 58. Greenberg F.[siicsalud.com] reported mutations have occurred de novo; Facial dysmorphic features are variable MOLECULAR BASIS: Caused by mutation in the K(lysine) acetyltransferase 6A gene (KAT6A, 601408.0001[findzebra.com]

  • Dystrophic Epidermolysis Bullosa

    […] movement, and eye inflammation leading to vision loss.[ghr.nlm.nih.gov] It groups skin diseases and lesions with other disorders and with systemic diseases, drug-related diseases, malignancies, and special conditions (nutritional disorders, pregnancy[books.google.com] All cases with localised DDEB have not necessarily been documented or registered in DEB databases and therefore those mutation reports are limited.[medicaljournals.se]

  • Anophthalmia or Microphthalmia - Esophageal Atresia Syndrome

    Both of these abnormalities can be associated with severe vision loss.[rarediseases.info.nih.gov] Related Journals: Journal of Congenital Anomalies; Journal of Congenital Heart Disease; Journal of Pediatrics and Congenital Disorders; The New England Journal of Medicine[imedpub.com] All remaining reported cases of SOX2 mutations and deletions have occurred de novo.[molvis.org]

  • Cutaneous Mastocytosis - Short Stature - Conductive Hearing Loss - Microtia

    […] of vision.[bjmp.org] Familial juvenile nephronophtisis, Jeune’s syndrome, and associated disorders.[dergipark.ulakbim.gov.tr] reported mutations have occurred de novo MOLECULAR BASIS: Caused by mutation in the nonselective sodium leak channel gene (NALCN, 611549.0004) Description The large number[findzebra.com]

  • Congenital Fibrosis of Extraocular Muscles Type 5

    It is characterized by adolescent onset, central visual impairment and the frequent appearance of orange-yellow flecks.[centogene.com] The impact of pediatric vision disorders in adulthood. 2011; 127(2):334-339.[aao.org] This book is a 'must have' for pediatric ophthalmologists, retina specialists, and geneticists.[books.google.es]

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