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

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.

SUBMITTER: Kim BJ

PROVIDER: S-EPMC3015235 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature

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

Kim Ben J BJ Ibrahim Mohamed A MA Goldberg Morton F MF

Retinal cases & brief reports 20110101 1

<h4>Purpose</h4>The purpose of this study was to describe the spectral domain-optical coherence tomography findings in a patient with cone-rod dystrophy 6.<h4>Methods</h4>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.<h4>Results</h4>The patient's fundi showed mild granularity of t ...[more]

PMID: 21218126

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Project description:PurposeTo assess the signal composition of cone photoreceptors three-dimensionally in healthy retinas using adaptive optics optical coherence tomography (AO-OCT).MethodsStudy population. Twenty healthy eyes of ten subjects (age 23 to 67). Procedures. After routine ophthalmological assessments, eyes were examined using AO-OCT. Three-dimensional volumes were acquired at 2.5° and 6.5° foveal eccentricity in four main meridians (superior, nasal, inferior, temporal). Cone densities and signal compositions were investigated in four different planes: the cone inner segment outer segment junction (IS/OS), the cone outer segment combined with the IS/OS (ISOS+), the cone outer segment tips (COST) and full en-face plane (FEF) combining signals from all mentioned cone layers. Additionally, reliability of a simple semi-automated approach for assessment of cone density was tested. Main outcome measures. Cone density of IS/OS, IS/OS+, COST and FEF. Qualitative depiction and composition of each cone layer. Inter-rater agreement of cone density measurements.ResultsMean overall cone density at all eccentricities was highest at the FEF plane (21.160/mm2), followed by COST (20.450/mm2), IS/OS+ (19.920/mm2) and IS/OS (19.530/mm2). The different meridians and eccentricities had a significant impact on cone density, with lower eccentricity resulting in higher cone densities (p≤.001), which were highest at the nasal, then temporal, then inferior and then superior meridian. Depiction of the cone mosaic differed between all 4 layers regarding signal size and packing density. Therefore, different cone layers showed evident but not complete signal overlap. Using the semi-automated technique for counting of cone signals achieved high inter-rater reliability (ICC > .99).ConclusionsIn healthy individuals qualitative and quantitative changes in cone signals are found not only in different eccentricities and meridians, but also within different photoreceptor layers. The variation between cone planes has to be considered when assessing the integrity of cone photoreceptors in healthy and diseased eyes using adaptive optics technology.

Dataset Information

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

Publications

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

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