Tomographic fundus features in pseudoxanthoma elasticum: comparison with neovascular age-related macular degeneration in Japanese patients

Ellabban, Abdallah A.; Hangai, Masanori; Yamashiro, Kenji; Nakagawa, Satoko; Tsujikawa, Akitaka; Yoshimura, Nagahisa

doi:10.1038/eye.2012.101

Cited by 30 publications

(18 citation statements)

References 35 publications

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“…Outer retinal tubulation has previously been described in disorders primarily associated with CNV or subretinal fibrosis such as neovascular AMD and angioid streaks due to pseudoxanthoma elasticum 1,3,4 ; it has also been reported in select conditions associated with geographic atrophy without CNV such as non-neovascular AMD and gyrate atrophy. 5 In this series, we demonstrate ORT in an expanded spectrum of degenerative retinal disorders in which outer retinal damage to the photoreceptors (as in RP and AZOOR) or the retinal pigment epithelium (RPE) (as in gyrate atrophy and choroideremia) appears to be the unifying feature.…”

Section: Discussionmentioning

confidence: 89%

Outer Retinal Tubulation in Degenerative Retinal Disorders

Goldberg

Greenberg

Laud

et al. 2013

Retina

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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.

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Section: Discussionmentioning

confidence: 89%

Outer Retinal Tubulation in Degenerative Retinal Disorders

Goldberg

Greenberg

Laud

et al. 2013

Retina

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“…SD-OCT imaging provided the first direct evidence that breaks in BM are indeed the underlying pathology of angioid streaks (Charbel Issa et al, 2009). Disruption and undulation (inward and outward deformation) of BM on OCT images are much more frequent in eyes of (older) PXE patients than in eyes of AMD patients (Ellabban et al, 2012a), facilitating somewhat the differentiation between those two causes for CNV and chorioretinal atrophy.…”

Section: Added Value Of Retinal Imagingmentioning

confidence: 99%

An update on the ocular phenotype in patients with pseudoxanthoma elasticum

Gliem¹,

Zaeytijd²,

Finger³

et al. 2013

Front. Genet.

125

206

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Pseudoxanthoma elasticum (PXE) is an inherited multi-system disorder characterized by ectopic mineralization and fragmentation of elastic fibers in the skin, the elastic laminae of blood vessels and Bruch’s membrane in the eye. Biallelic mutations in the ATP-binding cassette (ABC) transporter gene ABCC6 on chromosome 16 are responsible for the disease. The pathophysiology is incompletely understood. However, there is consent that a metabolic alteration leads to dysfunction in extracellular calcium homeostasis and subsequent calcification of connective tissues rich in elastic fibers. This review summarizes and aims at explaining the variety of phenotypic ocular findings in patients with PXE. Specialized imaging techniques including white light fundus photography, blue light autofluorescence, near-infrared confocal reflectance imaging, high resolution optical coherence tomography, fluorescein and indocyanine green (ICG) angiography have revealed characteristic lesions at the ocular fundus of PXE patients. These include the classic signs of angioid streaks, peau d’orange, comet lesions, and choroidal neovascularizations (CNVs), but also the more recently recognized features such as chorioretinal atrophy, subretinal fluid independent from CNV, pattern dystrophy-like changes, debris accumulation under the retinal pigment epithelium, reticular drusen and a decreased fluorescence on late phase ICG angiography.

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“…ORT is common in advanced AMD 5-8 and is less common in a variety of other retinal disorders. 5, 9-14 ORT may delimit the border of geographic atrophy (GA) and can be observed overlying fibrotic scars. 7 ORT is typically found in areas of previous outer retinal damage.…”

Section: Introductionmentioning

confidence: 99%

Outer Retinal Tubulation in Advanced Age-Related Macular Degeneration

Schaal

Freund

Litts

et al. 2015

Retina

116

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Purpose To compare optical coherence tomography (OCT) and histology of outer retinal tubulation (ORT) secondary to advanced age-related macular degeneration (AMD) in patients and in post-mortem specimens, with particular attention to the basis of the hyper-reflective border of ORT. Method A private referral practice (imaging) and an academic research laboratory (histology) collaborated on two retrospective case series. High-resolution OCT raster scans of 43 eyes (34 patients) manifesting ORT secondary to advanced AMD were compared to high-resolution histological sections through the fovea and superior perifovea of donor eyes (13 atrophic AMD and 40 neovascular AMD) preserved ≤4 hours after death. Results ORT seen on OCT corresponded to histologic findings of tubular structures comprised largely of cones lacking outer segments (OS) and lacking inner segments (IS). Four phases of cone degeneration were histologically distinguishable in ORT lumenal walls, nascent, mature, degenerate, and end-stage (IS and OS; IS only; no IS; no photoreceptors and only Müller cells forming external limiting membrane, ELM, respectively). Mitochondria, which are normally long and bundled within IS ellipsoids, were small and scattered within shrunken IS and cell bodies of surviving cones. A lumenal border was delimited by an ELM. ORT observed in closed and open configurations were distinguishable from cysts and photoreceptor islands on both OCT and histology. Hyper-reflective lumenal material seen on OCT represents trapped retinal pigment epithelium (RPE) and non-RPE cells. Conclusions The defining OCT features of ORT are location in the outer nuclear layer (ONL), a hyper-reflective band differentiating it from cysts, and RPE that is either dysmorphic or absent. ORT histologic and OCT findings corresponded in regard to composition, location, shape, and stages of formation. The reflectivity of ORT lumenal walls on OCT apparently does not require an OS or an IS/OS junction, indicating an independent reflectivity source, possibly mitochondria, in the IS.

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Tomographic fundus features in pseudoxanthoma elasticum: comparison with neovascular age-related macular degeneration in Japanese patients

Cited by 30 publications

References 35 publications

Outer Retinal Tubulation in Degenerative Retinal Disorders

Outer Retinal Tubulation in Degenerative Retinal Disorders

An update on the ocular phenotype in patients with pseudoxanthoma elasticum

Outer Retinal Tubulation in Advanced Age-Related Macular Degeneration

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