1. Use of Spectral Domain-Optical Coherence Tomography To Visualize Photoreceptor Abnormalities in Cone-Rod Dystrophy 6

    Purpose: The purpose of this study was to describe the spectral domain-optical coherence tomography findings in a patient with cone-rod dystrophy 6. Methods: This is a case report of a 13-year-old girl who presented with progressive loss of vision. Fundus photography, a fluorescein angiogram, an electroretinogram, autofluorescence imaging, spectral domain-optical coherence tomography, and genetic testing were performed. Results: The patient's fundi showed mild granularity of the perifoveal retinal pigment epithelium. An electroretinogram showed cone dysfunction and normal rod function. Genetic testing showed a heterozygous CGC>CAC nucleotide substitution at codon 838 of the GUCY2D gene. This results in an ...

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