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Brief Report
June 2016

Optical Coherence Tomography Angiography in ChoroideremiaCorrelating Choriocapillaris Loss With Overlying Degeneration

Author Affiliations
  • 1Department of Ophthalmology, Emory University, Atlanta, Georgia
  • 2Casey Eye Institute, Oregon Health & Science University, Portland
  • 3Division of Biostatistics, Department of Public Health and Preventive Medicine, Oregon Health & Science University, Portland
JAMA Ophthalmol. 2016;134(6):697-702. doi:10.1001/jamaophthalmol.2016.0874

Importance  Novel therapies for choroideremia, an X-linked recessive chorioretinal degeneration, demand a better understanding of the primary site(s) of cellular degeneration. Optical coherence tomography angiography allows for choriocapillaris (CC) imaging. We compared the extent of structural alterations of the CC, retinal pigment epithelium, and photoreceptors with multimodal imaging.

Observations  In a clinical case series conducted from September 15, 2014, through February 5, 2015, 14 eyes of 7 male patients with choroideremia (median age, 34 years [interquartile range, 15-46 years]; age range, 13-48 years), 4 eyes of 2 women with choroideremia carrier state (both in mid-50s), and 6 eyes of 6 controls (median age, 42.5 years [interquartile range, 33-55 years]; age range, 24-55 years) underwent multimodal imaging with optical coherence tomography angiography and electroretinography. The mean (SD) macular CC density was 82.9% (13.4%) in patients with choroideremia, 93.0% (3.8%) in female carriers, and 98.2% (1.3%) in controls. The mean (SD) CC density in affected eyes was higher in regions with preserved (92.6% [5.8%]) vs absent (75.9% [12.6%]) ellipsoid zone (mean difference, 16.7%; 95% CI, 12.1% to 21.3%; P < .001). Seventeen of 18 eyes of the patients and carriers had outer retinal tubulations forming pseudopod-like extensions from islands of preserved ellipsoid zone. Outer retinal tubulations were associated with absence of underlying retinal pigment epithelium and were longer (r = −0.62; 95% CI, −0.84 to −0.19; P < .001) and more numerous (r = −0.71; 95% CI, −0.91 to −0.27; P < .001) in more severely affected eyes.

Conclusions and Relevance  These findings suggest that regional changes in CC density correlate with photoreceptor structural alterations in choroideremia. Although closely coupled, the results suggest that retinal pigment epithelium loss is more extensive than photoreceptor loss.