Retinal structure, function, and molecular pathologic features in gyrate atrophy.

@article{Sergouniotis2012RetinalSF,
  title={Retinal structure, function, and molecular pathologic features in gyrate atrophy.},
  author={Panagiotis I. Sergouniotis and Alice E Davidson and Eva Lenassi and Sophie R Devery and Anthony T Moore and Andrew R. Webster},
  journal={Ophthalmology},
  year={2012},
  volume={119 3},
  pages={
          596-605
        }
}
PURPOSE To describe phenotypic variability and to report novel mutational data in patients with gyrate atrophy. DESIGN Retrospective case series. PARTICIPANTS Seven unrelated patients (10 to 52 years of age) with clinical and biochemical evidence of gyrate atrophy. METHODS Detailed ophthalmologic examination, fundus photography, fundus autofluorescence (FAF) imaging, spectral-domain optical coherence tomography, and microperimetry testing were performed. The coding region and intron-exon… CONTINUE READING
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