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6 Possible Causes for Severely Reduced Rod Responses on Electroretinography

  • Cone Rod Dystrophy
  • Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency

    It was pathological, with reduced rod and cone responses, in five patients, subnormal in four and was related to poor clinical metabolic control and severe neonatal symptoms[portal.research.lu.se] Repeated electroretinographies revealed reduced function with increasing age.[portal.research.lu.se] Electroretinography was performed on 11 of the 12 patients.[portal.research.lu.se]

  • Usher Syndrome Type 1D

    Full-field electroretinography may be normal at preclinical and early stages of the dystrophy, but later cone and rod responses are severely reduced, consistent with progressive[mendelian.co]

  • Aniridia

    Patient no. 24, the father of Patient no. 23, exhibited a relatively severe phenotype with delay and reduced amplitude throughout the ERGs, except for a subnormal Rod response[nature.com] Table 1: Mutations and phenotype of each patient Table 2: Chromosomal abnormalities and phenotype of each patient Figure 1 Electroretinographies of the patients (Patient no[nature.com]

  • Knobloch Syndrome Type 1

    Electroretinography showed cone-rod dysfunction in 18 eyes (10 patients) and severely reduced or undetectable responses in 6 eyes (4 patients) ( Figure 3 ).[dx.doi.org] Electroretinography revealed a cone-rod pattern of dysfunction in 8 patients, was severely reduced or undetectable in 2 patients, and demonstrated cone-rod dysfunction in[dx.doi.org] 1 eye with undetectable responses in the other eye in 2 patients.[dx.doi.org]

  • Congenital Stationary Night Blindness

    (ERG), showing severely reduced rod b-wave amplitude and slightly altered cone responses.[ncbi.nlm.nih.gov] Mutations in the genes NYX and GRM6, expressed in ON bipolar cells, lead to a disruption of the ON bipolar cell response.[ncbi.nlm.nih.gov] […] dysfunction is present in patients with complete X-linked and autosomal-recessive congenital stationary night blindness (CSNB) and can be assessed by standard full-field electroretinography[ncbi.nlm.nih.gov]

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