Use of spectral domain-optical coherence tomography to visualize photoreceptor abnormalities in cone-rod dystrophy 6

Ben J. Kim, Mohamed A. Ibrahim, Morton F. Goldberg

Research output: Contribution to journalArticlepeer-review

Abstract

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 amino acid change of Arg838His and provides a molecular diagnosis of cone-rod dystrophy 6. The spectral domain-optical coherence tomography showed abnormalities at the inner segment/outer segment junction and the outer segment layer suggestive of loss or disease of photoreceptor outer segments. Autofluorescence imaging showed a perifoveal ring of hyperfluorescence that correlated with abnormallities on spectral domain-optical coherence tomography. Conclusion: Spectral domain-optical coherence tomography can show photoreceptor abnormalities that correlate with the perifoveal ring seen with autofluorescence imaging of patients with cone-rod dystrophy 6. Spectral domain-optical coherence tomography has significant potential for understanding and following the natural history of diseases such as cone-rod dystrophy 6. copyright

Original languageEnglish (US)
Pages (from-to)56-61
Number of pages6
JournalRetinal Cases and Brief Reports
Volume5
Issue number1
DOIs
StatePublished - Dec 2011

ASJC Scopus subject areas

  • Ophthalmology

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