Outer Retinal Tubulation in Degenerative Retinal Disorders

Abstract

Objective To demonstrate outer retinal tubulation (ORT) in various degenerative retinal disorders. Methods This was a retrospective review of the multimodal imaging of 29 eyes of 15 patients with various retinal dystrophies and inflammatory maculopathies manifesting ORT. The morphologic features of ORT and its evolution over time were analyzed using spectral-domain optical coherence tomography (SD-OCT) data. Results Outer retinal tubulation was identified as round or ovoid structures with hyper-reflective borders in pattern dystrophy (6 eyes), acute zonal occult outer retinopathy (5 eyes), retinitis pigmentosa (4 eyes), Stargardt disease (4 eyes), gyrate atrophy (2 eyes), choroideremia (2 eyes), and various other degenerative conditions. These structures appeared to develop from the invagination of photoreceptors at the junction of intact and atrophic outer retina. During follow-up, the number and distribution of ORT largely remained stable. As zones of atrophy enlarged, the frequency of ORT appeared to increase. The ORT structures were found in fewer than 10% of patients with retinitis pigmentosa, Stargardt, or pattern dystrophy. Conclusion Outer retinal tubulation is found in various degenerative retinal disorders that share in common damage to the outer retina and/or retinal pigment epithelium. The presence of ORT may be in an indicator of underlying disease stage and severity.

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.…”

Fundus Autofluorescence and Photoreceptor Cell Rosettes in Mouse Models

“…4, 5). Hyperreflective ovoid structures referred to as outer retinal tubulations 61,62 are observed in many forms of human retinal degeneration, including RP, Stargardt disease, and acute zonal occult outer retinopathy; these lesions are likely analogous to photoreceptor rosettes.…”

Clinical Characteristics and Current Therapies for Inherited Retinal Degenerations

“…Fundus autofluorescence reveals loss of autofluorescence in chorioretinal atrophic area with island of persistent autofluorescence, which, however, has a salt-and-pepper speckled appearance (Renner et al 2006). OCT reveals thinning of both outer retinal structures and choriocapilaris that are sharply demarcated with evidence of retinal tabulation on the atrophic areas (Goldberg et al 2013).…”