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(Acute angle closure glaucoma)
1,286 results
  • AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY: When Molecular Genetic Testing Helps Clinical Diagnosis. [Journal Article]
  • RRetina 2018 Jan 23
  • Boulanger-Scemama E, Sahel JA, … Audo I
  • CONCLUSIONS: This report highlights the high phenotypic variability of autosomal dominant vitreoretinochoroidopathy, which may be misdiagnosed, especially in advanced forms with severe generalized photoreceptor dysfunction mimicking retinitis pigmentosa. Targeted next-generation sequencing can contribute to the proper clinical diagnosis, especially in case of atypical phenotypic features of autosomal dominant vitreoretinochoroidopathy.
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