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  • Mutations in the ABCA4 (ABCR) Gene Are the Major Cause of Autosomal . . .
    In addition, a few cases with AR retinitis pigmentosa (RP) and AR cone-rod dystrophy (CRD) have been found to have ABCA4 mutations To evaluate the importance of the ABCA4 gene as a cause of AR CRD, we selected 5 patients with AR CRD and 15 patients with isolated CRD, all from Germany and The Netherlands
  • Cone-Rod Dystrophy: Symptoms Causes - Cleveland Clinic
    So far, research shows at least 28 separate mutations can cause it Those mutations can be: Autosomal dominant (you can inherit it if only one biological parent passes the mutation to you) Autosomal recessive (you can only inherit it if both biological parents pass the mutation to you)
  • Understanding the Conditions Linked to ABCA4 Gene
    Cone-rod dystrophy is another serious condition linked to mutations in the ABCA4 gene This disorder affects both cone and rod photoreceptors, leading to a spectrum of visual impairments that can vary widely among individuals
  • The ABCA4 Gene in Autosomal Recessive Cone-Rod Dystrophies
    The identification of mutations in 13 20 patients (65%) led the authors to speculate that “Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy ” The present study was undertaken to evaluate the prevalence of ABCA4 mutations in a cohort of 55 patients affected with autosomal recessive or sporadic CRD
  • Phenotypic Spectrum of Autosomal Recessive Cone–Rod Dystrophies Caused . . .
    Mutations in the ABCA4 gene are the pathologic cause of the CRD-like dystrophy in these patients, and the resultant clinical pictures are complex and heterogeneous Given this wide clinical spectrum of CRD-like phenotypes associated with ABCA4 mutations, detailed clinical subclassifications are difficult and may not be very useful
  • ABCA4 gene analysis in patients with autosomal recessive cone and cone . . .
    Mutations in the ABCA4 gene have been initially associated with autosomal recessive Stargardt disease Subsequent studies have shown that mutations in ABCA4 can also cause a variety of other retinal dystrophies including cone rod dystrophy and retinitis pigmentosa
  • ABCA4 - Wikipedia
    Accumulation of A2E causes toxicity at the primary RPE level and secondary photoreceptor destruction in macular degenerations Additional diseases that may link to mutations in ABCA4 include fundus flavimaculatus, cone-rod dystrophy, retinitis pigmentosa, and age-related macular degeneration
  • The ABCA4 Gene in Autosomal Recessive Cone-Rod Dystrophies
    The identification of mutations in 13 20 patients (65%) led the authors to speculate that “Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy ”
  • ABCA4 gene analysis in patients with autosomal recessive cone and cone . . .
    Mutations in the ABCA4 gene have been initially associated with autosomal recessive Stargardt disease Subsequent studies have shown that mutations in ABCA4 can also cause a variety of
  • Mutations in the ABCA4 (ABCR) gene are the major cause of . . . - PubMed
    The photoreceptor cell-specific ATP-binding cassette transporter gene (ABCA4; previously denoted "ABCR") is mutated, in most patients, with autosomal recessive (AR) Stargardt disease (STGD1) or fundus flavimaculatus (FFM) In addition, a few cases with AR retinitis pigmentosa (RP) and AR cone-rod dy …





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