TY - JOUR
T1 - Optical coherence tomography angiography in choroideremia
T2 - Correlating choriocapillaris loss with overlying degeneration
AU - Jain, Nieraj
AU - Jia, Yali
AU - Gao, Simon S.
AU - Zhang, Xinbo
AU - Weleber, Richard G.
AU - Huang, David
AU - Pennesi, Mark E.
N1 - Funding Information:
This work was supported by grants DP3 DK104397 (Dr Jia), R01 EY024544 (Drs Jia and Gao), R01 EY023285 (Drs Huang and Gao), 1K08 EY0231186-01 (Dr Gao), DP3 DK104397 (Dr Gao), T32 EY23211 (Dr Gao), and 1K08 EY021186-01 (Dr Pennesi), core grant P30EY010572 to Casey Eye Institute, Oregon Health & Science University, and Clinical and Translational Science Award UL1TR000128 (Drs Gao and Huang) from the National Institutes of Health; Career Development Award CF-CL-0614-0647-OHSU (Drs Jain and Gao), Enhanced Career Development Award (Dr Pennesi), and a center grant (Dr Weleber) from the Foundation Fighting Blindness; a Career Development Award (Drs Jia, Gao, and Pennesi) and an unrestricted grant to Casey Eye Institute, Oregon Health & Science University from Research to Prevent Blindness; a grant from Optovue, Inc (Dr Huang); anda grant from the Choroideremia Research Foundation (Dr Pennesi).
PY - 2016/6
Y1 - 2016/6
N2 - 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.
AB - 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.
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U2 - 10.1001/jamaophthalmol.2016.0874
DO - 10.1001/jamaophthalmol.2016.0874
M3 - Article
C2 - 27149258
AN - SCOPUS:84973868039
SN - 2168-6165
VL - 134
SP - 697
EP - 702
JO - JAMA ophthalmology
JF - JAMA ophthalmology
IS - 6
ER -