Outer Retinal Tubulation Research Articles

Evaluation of Cystoid Change Phenotypes in Ocular Toxoplasmosis Using Optical Coherence Tomography

PurposeTo present unique cystoid changes occurring in patients with ocular toxoplasmosis observed in spectral domain optical coherence tomography (OCT).MethodsForty-six patients (80 eyes) with a diagnosis of ocular toxoplasmosis, who underwent volume OCT examination between January 2005 and October 2012, were retrospectively collected. Review of clinical examination findings, fundus photographs, fluorescein angiograms (FA) and OCT image sets obtained at initial visits and follow-up. Qualitative and quantitative analyses of cystoid space phenotypes visualized using OCT.ResultsOf the 80 eyes included, 17 eyes (15 patients) demonstrated cystoid changes in the macula on OCT. Six eyes (7.5%) had cystoid macular edema (CME), 2 eyes (2.5%) had huge outer retinal cystoid space (HORC), 12 eyes (15%) had cystoid degeneration and additional 3 eyes (3.75%) had outer retinal tubulation due to age related macular degeneration. In one eye with HORC, the lesion was seen in the photoreceptor outer segment, accompanied by photoreceptor elongation and splitting. Three eyes presented with paravascular cystoid degeneration in the inner retina without other macular OCT abnormality.ConclusionsIn this study, different phenotypes of cystoid spaces seen in eyes with ocular toxoplasmosis using spectral domain OCT (SD-OCT) were demonstrated. CME presented as an uncommon feature, consistently with previous findings. Identification of rare morphological cystoid features (HORC with/without photoreceptor enlongation or splitting) on clinical examination had provided evidence to previous experimental models, which may also expand the clinical spectrum of the disease. Cystoid degeneration in the inner retina next to the retinal vessels in otherwise “normal” looking macula was observed, which may suggest more often clinical evaluation for those patients. Further studies are needed to verify the relevance of cystoid features seen on SD-OCT in assisting with the diagnosis and management of ocular toxoplasmosis.

Spectral domain optical coherence tomographic findings of bietti crystalline dystrophy.

We analyzed the OCT features of 24 eyes of 12 patients with Bietti crystalline dystrophy (BCD) with the Heidelberg HRA2-OCT. Seventeen of 24 eyes were in intermediate stage of the disease and seven in advanced stage of the disease at the time of latest OCT examination performed in 2014. Outer retinal tubulations and retinal hyperreflective dots were present in 20 of 24 eyes. The remaining four eyes had advanced disease with very thin retina. Appearance of bright plaque on top of RPE-Bruch membrane was present in all eyes. Choroidal hyperreflective spots were noted in 19 of 24 eyes. The remaining five eyes had advanced disease stage with very thin choroid. Mean central macular thickness was 163.08 μm ± 62.52 for all eyes (170.35 μm ± 56.46 in eyes with intermediate disease and 145.42 μm ± 77.2 in eyes with advanced disease). Mean subfoveal choroidal thickness was 95.37 μm ± 55.93 for the study eyes (116.47 ± 46.92 μm in eyes with intermediate disease and 44.14 μm ± 42.43 in eyes with advanced disease). Choroidal hyperreflective spots were noted in 21 of 24 eyes (87.5%). SD-OCT shows the disease progression in retinal and choroidal layers delicately in eyes with BCD and expands our knowledge about the ongoing disease process.

Outer Retinal Tubulation in Chronic Central Serous Chorioretinopathy

Outer Retinal Tubulation in Chronic Central Serous Chorioretinopathy

OUTER RETINAL TUBULATION IN DEGENERATIVE RETINAL DISORDERS

To demonstrate outer retinal tubulation (ORT) in various degenerative retinal disorders. 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 data. Outer retinal tubulation was identified as round or ovoid structures with hyperreflective borders in pattern dystrophy (six eyes), acute zonal occult outer retinopathy (five eyes), retinitis pigmentosa (four eyes), Stargardt disease (four eyes), gyrate atrophy (two eyes), choroideremia (two 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 <10% of patients with retinitis pigmentosa, Stargardt disease, or pattern dystrophy. 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 an indicator of underlying disease stage and severity.

SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY–DETERMINED MORPHOLOGIC PREDICTORS OF AGE-RELATED MACULAR DEGENERATION–ASSOCIATED GEOGRAPHIC ATROPHY PROGRESSION

To correlate spectral domain optical coherence tomography (SD OCT)-determined morphologic alterations in eyes with geographic atrophy because of age-related macular degeneration with lesion size, enlargement rate, and the presence of multifocal patches of atrophy. Forty-three eyes of 43 patients with age-related macular degeneration-associated geographic atrophy were visualized by SD OCT and fundus autofluorescence imaging. The baseline area of geographic atrophy and enlargement rates over at least 24 weeks were calculated from the fundus autofluorescence images. The mean and median follow-up times were 47.4 and 48 weeks, respectively. Morphologic alterations were evaluated in the baseline SD OCT images. Ninety-seven SD OCT scans per eye were graded and included in the analysis. Correlations between morphologic alterations and the rate of lesion enlargement, size, and focality, and the diffuse trickling fundus autofluorescence pattern were determined. The mean and median enlargement rates were 2.07 mm(2)/year (n = 43; SD, 1.30) and 2.02 mm(2)/year, respectively. Outer retinal tubulations (P = 0.003) and irregular elevations of the retinal pigment epithelium/Bruch membrane complex (P < 0.001) in the atrophic region, and splitting of the retinal pigment epithelium/Bruch membrane complex at 2 junctional zone borders (P = 0.02) correlated with faster enlargement. Outer retinal tubulations (P = 0.096), irregular elevations of the retinal pigment epithelium/Bruch membrane complex (P = 0.010), and crown-like elevations with debris beneath in the atrophic region (P = 0.063) correlated with larger lesion size. Hyperreflective plaques in the outer retina appeared more frequently in eyes with multifocal patches of atrophy (P = 0.005). Distinct morphologic alterations visible on SD OCT imaging in eyes with geographic atrophy because of age-related macular degeneration are associated with faster enlargement rates, larger lesion size, and multifocal patches of atrophy.

Clinical and Molecular Analysis of Stargardt Disease With Preserved Foveal Structure and Function

To describe a cohort of patients with Stargardt disease who show a foveal-sparing phenotype. Retrospective case series. The foveal-sparing phenotype was defined as foveal preservation on autofluorescence imaging, despite a retinopathy otherwise consistent with Stargardt disease. Forty such individuals were ascertained and a full ophthalmic examination was undertaken. Following mutation screening of ABCA4, the molecular findings were compared with those of patients with Stargardt disease but no foveal sparing. The median age of onset and age at examination of 40 patients with the foveal-sparing phenotype were 43.5 and 46.5 years. The median logMAR visual acuity was 0.18. Twenty-two patients (22/40, 55%) had patchy parafoveal atrophy and flecks; 8 (20%) had numerous flecks at the posterior pole without atrophy; 7 (17.5%) had mottled retinal pigment epithelial changes; 2 (5%) had multiple atrophic lesions, extending beyond the arcades; and 1 (2.5%) had a bull's-eye appearance. The median central foveal thickness assessed with spectral-domain optical coherence tomographic images was 183.0 μm (n = 33), with outer retinal tubulation observed in 15 (45%). Twenty-two of 33 subjects (67%) had electrophysiological evidence of macular dysfunction without generalized retinal dysfunction. Disease-causing variants were found in 31 patients (31/40, 78%). There was a higher prevalence of the variant p.Arg2030Gln in the cohort with foveal sparing compared to the group with foveal atrophy (6.45% vs 1.07%). The distinct clinical and molecular characteristics of patients with the foveal-sparing phenotype are described. The presence of 2 distinct phenotypes of Stargardt disease (foveal sparing and foveal atrophy) suggests that there may be more than 1 disease mechanism in ABCA4 retinopathy.

Outer retinal tubulations in serpinginous choroiditis

Outer retinal tubulations in serpinginous choroiditis

OUTER RETINAL TUBULATION IN INHERITED RETINAL DEGENERATIVE DISEASE

To investigate the prevalence and characteristics of outer retinal tubulation (ORT) seen in inherited retinal degenerative diseases. A total of 354 eyes of 177 patients were examined with spectral domain optical coherence tomography. One hundred and twelve patients had retinitis pigmentosa, 58 patients had cone dystrophy, and 7 patients had the Bietti crystalline dystrophy. The images obtained by horizontal and vertical scans were analyzed to explore the possible presence of ORT, estimate their prevalence, morphologic character, and their location in the retinal layers. With spectral domain optical coherence tomography, ORT was identified in 0 of 112 patients with retinitis pigmentosa, unilaterally in 3 of 58 patients with cone dystrophy, and bilaterally in 5 of 7 patients with the Bietti crystalline dystrophy. Outer retinal tubulation was detected under the fovea, and in the outer nuclear layer, ORT was detected in the Bietti crystalline dystrophy with a significantly higher frequency than in cone dystrophy (P < 0.001). There was a higher rate of ORT in the Bietti crystalline dystrophy among inherited retinal degenerative diseases.

Multimodal Assessment of Microscopic Morphology and Retinal Function in Patients With Geographic Atrophy

To correlate retinal function and visual sensitivity with retinal morphology revealed by ultrahigh-resolution imaging with adaptive optics-optical coherence tomography (AO-OCT), on patients with geographic atrophy. Five eyes from five subjects were tested (four with geographic atrophy [66.3 ± 6.4 years, mean ± 1 SD] and one normal [61 years]). Photopic and scotopic multifocal electroretinograms (mfERGs) were recorded. Visual fields were assessed with microperimetry (mP) combined with a scanning laser ophthalmoscope for high-resolution confocal retinal fundus imaging. The eye tracker of the microperimeter identified the preferred retinal locus that was then used as a reference for precise targeting of areas for advanced retinal imaging. Images were obtained with purpose-built, in-house, ultrahigh resolution AO-OCT. Fundus autofluorescence (FAF) and color fundus (CF) photographs were also acquired. The AO-OCT imaging provided detailed cross-sectional structural representation of the retina. Up to 12 retinal layers were identified in the normal subject while many severe retinal abnormalities (i.e., calcified drusen, drusenoid pigment epithelium detachment, outer retinal tubulation) were identified in the retinae of the GA patients. The functional tests showed preservation of sensitivities, although somewhat compromised, at the border of the GA. The images provided here advance our knowledge of the morphology of retinal layers in GA patients. While there was a strong correlation between altered retinal structure and reduction in visual function, there were a number of examples in which the photoreceptor inner/outer segment (IS/OS) junctions lost reflectivity at the margins of GA, while visual function was still demonstrated. This was shown to be due to changes in photoreceptor orientation near the GA border.

Choroidal naevi complicated by choroidal neovascular membrane and outer retinal tubulation

AimsTo present the outcomes of a series of patients with choroidal neovascular membrane (CNV) secondary to a choroidal naevus and report the presence of outer retinal tubulation.MethodsIn this retrospective series,...

Characterization of Neovascular Age-Related Macular Degeneration Patients with Outer Retinal Tubulations

Purpose: To characterize the neovascular lesions of patients with age-related macular degeneration (AMD) and outer retinal tubulations (ORTs). Methods: A retrospective study of 377 eyes with exudative AMD, submitted to intravitreal anti-angiogenic treatment. Patients were divided into 2 groups according to the presence or absence of ORTs on spectral-domain optical coherence tomography (SD-OCT; group 1 - with ORTs; group 2 - without ORTs). Age, best corrected visual acuity (BCVA), fluorescein angiography characteristics, presence of subretinal fibrosis and subfoveal photoreceptor integrity on SD-OCT were analyzed. Results: Although both groups had a BCVA gain during the follow-up period, initial and final BCVA were lower in group 1 (p = 0.020 and p = 0.042, respectively). There was no statistically significant difference in the BCVA variation between the 2 groups (p = 0.907). Regarding the initial angiographic lesion type, there was a statistically significant difference between the 2 groups (p = 0.008): group 1 had more lesions with a classic component and group 2 had more occult lesions with no classic component. There was a statistically significant difference concerning the loss of subfoveal photoreceptor integrity (p = 0.0007). Conclusions: Even though AMD patients with ORTs were associated with poor visual outcomes, we reported BCVA improvement. AMD patients with a classical component in their lesions are prone to develop ORTs.

High-Resolution Images of Retinal Structure in Patients with Choroideremia

To study retinal structure in choroideremia patients and carriers using high-resolution imaging techniques. Subjects from four families (six female carriers and five affected males) with choroideremia (CHM) were characterized with best-corrected visual acuity (BCVA), kinetic and static perimetry, full-field electroretinography, and fundus autofluorescence (FAF). High-resolution macular images were obtained with adaptive optics scanning laser ophthalmoscopy (AOSLO) and spectral domain optical coherence tomography (SD-OCT). Coding regions of the CHM gene were sequenced. Molecular analysis of the CHM gene identified a deletion of exons 9 to 15 in family A, a splice site mutation at position 79+1 of exon 1 in family B, deletion of exons 6 to 8 in family C, and a substitution at position 106 causing a premature stop in family D. BCVA ranged from 20/16 to 20/63 in carriers and from 20/25 to 5/63 in affected males. FAF showed abnormalities in all subjects. SD-OCT showed outer retinal layer loss, outer retinal tubulations at the margin of outer retinal loss, and inner retinal microcysts. Patchy cone loss was present in two symptomatic carriers. In two affected males, cone mosaics were disrupted with increased cone spacing near the fovea but more normal cone spacing near the edge of atrophy. 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.).

Outer retinal tubulations in maternally inherited diabetes and deafness (MIDD)-associated macular dystrophy

Outer retinal tubulations in maternally inherited diabetes and deafness (MIDD)-associated macular dystrophy

Clinical Applications of High Resolution In-Vivo Retinal Imaging

Clinical Applications of High Resolution In-Vivo Retinal Imaging

Long-term Follow-up of Outer Retinal Tubulation Documented by Eye-Tracked and En Face Spectral-Domain Optical Coherence Tomography

Long-term Follow-up of Outer Retinal Tubulation Documented by Eye-Tracked and En Face Spectral-Domain Optical Coherence Tomography

Outer retinal tubulations in chronic central serous chorioretinopathy

Outer retinal tubulations in chronic central serous chorioretinopathy

Error in Figure in: Outer Retinal Tubulation: A Novel Optical Coherence Tomography Finding

Error in Figure in: Outer Retinal Tubulation: A Novel Optical Coherence Tomography Finding

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

To determine the retinal and subretinal features characteristic to pseudoxanthoma elasticum (PXE) compared with age-related macular degeneration by using spectral-domain optical coherence tomography (SD-OCT) in Japanese patients. We reviewed colour fundus photographs, fluorescein angiograms, and SD-OCT images of 52 eyes (27 Japanese patients) with angioid streaks (AS) due to PXE. Then we compared the incidence of tomographic features between 24 eyes (24 patient) with choroidal neovascularization (CNV) secondary to AS and 44 eyes (44 patients) with CNV secondary to age-related macular degeneration (AMD). Secondary CNV was found in 44 eyes (84.6%) of 52 patients with PXE during follow-up. We found characteristic round or ovoid tubular structures with highly reflective annular lines (termed 'outer retinal tubulation' (ORT)) in 31 (70.5%) of 44 eyes with CNV, but none were found in eyes without CNV. We also found characteristic undulations of Bruch's membrane in 38 (73.1%) eyes with AS. The incidence of ORT was significantly greater in eyes with CNV secondary to AS (70.8%; P=0.005) compared with eyes with CNV secondary to AMD (34.1%). The incidence of Bruch's membrane undulation was significantly greater in eyes with CNV secondary to AS (70.8%; P<0.0001) than in eyes with CNV secondary to AMD (11.4%). SD-OCT imaging clearly revealed a greater incidence of unique lesions, including ORT and Bruch's membrane undulation, in eyes in PXE patients with CNV secondary to AS than in eyes with CNV secondary to AMD.

En Face OCT Imaging for the Diagnosis of Outer Retinal Tubulations in Age-Related Macular Degeneration.

Purpose. “En face” is an emerging imaging technique derived from spectral domain optical coherence tomography (OCT). It produces frontal sections of retinal layers, also called “C-scan OCT.” Outer retinal tubulations (ORTs) in age-related macular degeneration (AMD) are a recent finding evidenced by spectral-domain OCT. The aim of this study is to characterize the morphology of ORT according to the form of AMD, using “en-face” spectral domain OCT. Methods. “En face” OCT imaging was prospectively performed in 26 consecutive eyes with AMD that also had ORT. Results. There were 15 neovascular, 8 atrophic, and 3 eyes with a mixed (fibrotic and atrophic) form of AMD. Among the neovascular group, the most frequent tubulation pattern on “en-face” OCT was a branching network emanating from a fibrovascular scar; we term this pattern as “pseudodendritic.” It did not require treatment when observed as an isolated finding. In all cases of atrophic AMD, the tubular network was located at the edge of the geographic atrophy area, and formed a “perilesional” pattern. Six atrophic cases showed tubular invaginations inside this area. Conclusion. “En face” OCT is a valuable technique in the diagnosis and followup of macular disease. It revealed the main characteristic patterns of ORT associated with neovascular and atrophic AMD.

Correlation of fundus autofluorescence, spectral-domain optical coherence tomography, and microperimetry in late deferoxamine maculopathy.

To describe long-term functional and morphologic retinal changes by deferoxamine, a chelating agent used to treat systemic iron overload. Ophthalmologic examination of acute deferoxamine maculopathy and follow-up of 5 years, using ophthalmologic examination, fluorescence angiography, electrophysiology, color vision testing, fundus image-correlated microperimetry, time-domain and spectral-domain optical coherence tomographies. The patient is a 53-year old woman who presented with acute visual deterioration to 20/50 in the right eye, 20/60 in the left eye, and reduced color vision. She had been treated with deferoxamine for 6 months. The diagnosis of deferoxamine maculopathy was made, and the drug discontinued immediately. After 5 months, visual acuity was 20/25 bilaterally, but mottling of the retinal pigment epithelium (RPE) had developed. Five years later, visual acuity was 20/20 in both eyes. Fundus autofluorescence showed progressively clumped hyper- and hypofluorescence with larger areas of total RPE atrophy in the left eye. Spectral-domain optical coherence tomography visualized areas of RPE thickening, photoreceptor outer segment elongation, outer retinal tubulation, and outer retinal and RPE atrophy. Fundus image-correlated microperimetry showed relative central scotomas at the beginning, some of which recovered to normal light sensitivity, while others deteriorated to absolute scotomas. Although visual acuity had recovered after cessation of deferoxamine, functional and morphologic residues remained, which included disturbed color vision, central microscotomas, and progressive RPE and outer retinal degeneration.