High-Resolution Images of Retinal Structure in Patients with Choroideremia

Abstract

High-resolution retinal images in CHM carriers and affected males demonstrated RPE and photoreceptor cell degeneration. As both RPE and photoreceptor cells were affected, these cell types may degenerate simultaneously in CHM. These findings provide insight into the effect of CHM mutations on macular retinal structure, with implications for the development of treatments for CHM. (ClinicalTrials.gov number, NCT00254605.).

High-Resolution Adaptive Optics Retinal Imaging of Cellular Structure in Choroideremia

“…Rarely, the outer retinal layers tapered off more peripherally than the location marking the increase in choroidal backscatter. The OCT B-scans showed outer retinal tubulations, 28,29 interlaminar bridges, 6 and inner retinal microcysts 22 show interlaminar bridges similar to those described by Jacobson et al 6 These bridges mark the abrupt transition from central relatively intact retinal lamination to outer retinal atrophy. Blue arrowhead points to inner retinal microcysts as previously described.…”

“…Blue arrowhead points to inner retinal microcysts as previously described. 22,30 The red arrowheads mark the abrupt border to the outer nuclear layer plus Henle's fiber layer, the external limiting membrane, and the ellipsoid band. The interdigitation band is indistinguishable from the RPE throughout the entire central region and the interdigitation band/RPE combination is thin compared to normal.…”

“…14 This technique has allowed noninvasive observation of the individual photoreceptors in patients with retinal disease. [15][16][17][18][19][20][21][22] Combined, data from the various highresolution imaging modalities can provide a thorough assess- …”

Human Cone Visual Pigment Deletions Spare Sufficient Photoreceptors to Warrant Gene Therapy

“…In the normal central retina immediately eccentric to the foveola, there are five distinct hyperscattering peaks (Srinivasan et al, 2008;Kocaoglu et al, 2011;Mustafi et al, 2011;Sakami et al, 2011;Spaide and Curcio, 2011;Syed et al, 2013) (Fig. 3A).…”

Swept-Source Optical Coherence Tomography Findings in Convalescent Phase of Treated Sarcoid Choroidal Granulomas

“…Outer retinal tubulations have been reported in a variety of diseases including age-related macular degeneration and serpiginous choroiditis. 10 It is believed that they result from the rearrangement of the photoreceptor layer in response to retinal injury and are located in the outer nuclear layer of the retina. They appear as round or ovoid hyporeflective spaces with hyperreflective borders and can simulate intraretinal exudates or subretinal fluid.…”