Presence Of Outer Retinal Tubulation Research Articles

Geographic atrophy progression secondary to age-related macular degeneration: Five years of follow-up.

To study the progression of geographic atrophy (GA) secondary to age-related macular degeneration over a five-year follow-up. Eyes with GA included to assess demographic data, yearly optical coherence tomography (OCT) findings and the GA growth rate on infra-red (IR) images. A total of 41 eyes of 29 patients were included with a mean age of 81.76 ± 6.37 at baseline, and 65.51% were females. Over five years, there was a significant increase in the mean GA area from 8.44 ± 8.98 mm² to 13.32 ± 10.07 mm² (P < 0.001), with an annual growth rate of 1.14 ± 0.78 mm². The annual growth rates in females were slightly higher compared to males (1.29 ± 0.89 mm2 vs 0.96 ± 0.49 mm2, p = 0.569), and in smokers was slightly higher than non-smokers (1.35 ± 0.85 mm2 vs 0.94 ± 0.66 mm2, p = 0.100). Larger GA areas at the baseline showed higher GA progression in mm2 per year (P = 0.04). Smaller GA areas and fovea-spared GA at the baseline exhibited a larger percentage increase (P < 0.001 and P = 0.015, respectively). There was a lower GA progression rate in eyes with outer retinal tubulations (ORT) (P = 0.027), yet no significant correlation was found between GA progression and other OCT features. Smaller, fovea-sparing GA eyes experienced a more substantial proportional increase over five years. Also, The presence of ORT was associated with a slower rate of GA progression. Additionally, we observed a trend of faster GA growth in smokers and female genders.

Cross-Sectional Analysis of Outer Retinal Tubulation in Inherited Retinal Diseases: A Multicenter Study

PurposeThis study aims to explore genetic variants that potentially lead to outer retinal tubulation (ORT), estimate the prevalence of ORT in these candidate genes, and investigate the clinical etiology of ORT in patients with inherited retinal diseases (IRDs), with respect to each gene. DesignRetrospective cohort study. MethodsA retrospective cross-sectional review was conducted on 565 patients with molecular diagnoses of IRD, confirming the presence of ORT as noted in each patient's respective spectral-domain optical coherence tomography (SD-OCT) imaging. Using SD-OCT imaging, the presence of ORT was analyzed in relation to specific genetic variants and phenotypic characteristics. Outcomes included the observed ORT frequencies across two gene-specific cohorts: non- retinal pigment epithelium (RPE)-specific genes, and RPE-specific genes; and to investigate the analogous characteristics caused by variants in these genes. ResultsAmong the 565 patients included in this study, 104 exhibited ORT on SD-OCT. We observed ORT frequencies among the following genes from our patient cohort: 100% (23/23) forCHM, 100%(2/2) forPNPLA6, 100% (4/4) forRCBTB1, 100% formtDNA[100% (4/4) forMT-TL1and 100% (1/1) formtDNAdeletion], 100% (1/1) forOAT, 95.2% (20/21) forCYP4V2, 72.7% (8/11) forCHMfemale carriers, 66.7% (2/3) forC1QTNF5, 57.1% (8/14) forPROM1, 53.8% (7/13) forPRPH2, 42.9% (3/7) forCERKL, 28.6% (2/7) forCDHR1, 20% (1/5) forRPE65, 4% (18/445) forABCA4.In contrast, ORT was not observed in any patients with photoreceptor-specific gene variants, such asRHO(n=13),USH2A(n=118),EYS(n=70),PDE6B(n=10),PDE6A(n=4),and others. ConclusionThese results illustrate a compelling association between the presence of ORT and IRDs caused by variants in RPE-specific genes, as well as non-RPE-specific genes. In contrast, IRDs caused by photoreceptor-specific genes are typically not associated with ORT occurrence. Further analysis revealed that ORT tends to manifest in IRDs with milder intraretinal pigment migration (IPM), a finding that is typically associated with RPE-specific genes. These findings regarding ORT, genetic factors, atrophic patterns in the fundus, and IPM provide valuable insight into the complex etiology of IRDs. Future prospective studies are needed to further explore the association and underlying mechanisms of ORT in these contexts.

Prevalence and optical coherence tomography analyses of outer retinal tubulations in Chinese population with inherited retinal diseases.

To investigate the prevalence of outer retinal tubulation (ORT) and its correlations with optical coherence tomography (OCT) parameters in Chinese population with inherited retinal diseases (IRDs). This retrospective study enrolled consecutive patients identified with IRDs and referred for genetic testing between February 2016 and April 2021. Clinical characteristics from medical records and features of cross-sectional B-scans were reviewed and analysed. The associations of patient-specific and ocular features with the presence of ORT were evaluated using univariate and multivariate analyses. Two hundred and three patients (401 eyes) with a mean age of 49.7 ± 16.7 years were enrolled. ORT was observed in 41 eyes (10.2%), including 26 of 28 eyes (92.9%) with Bietti crystalline corneoretinal dystrophy (BCD), 14 of 338 eyes (4.1%) with retinitis pigmentosa (RP), and 1 of 26 eyes (3.8%) in eyes with cone-rod dystrophy. Eyes with ORT showed significantly worse visual acuity than those without ORT (P = 0.002). Multivariate analysis indicated that the presence of ORT was positively correlated with choroidal atrophy and inner nuclear layer (INL) cysts (P < 0.01). ORTs were detected more frequently in eyes with BCD than RP (P = 0.024), most of which located exclusively within the extrafoveal area. Large choroidal vessels were detected underneath the corresponding ORTs in both patients with BCD and RP. The prevalence of ORT varies among different IRDs phenotypes, with the highest prevalence in BCD. The presence of choroidal atrophy and INL cysts may be associated with an increased risk of ORT formation in patients with IRD.

Outer retinal tubulations in central serous chorioretinopathy associated with choroidal neovascularisation.

To report the prevalence and characteristics of outer retinal tubulations in eyes with choroidal neovascularisation associated with chronic central serous chorioretinopathy. Retrospective case series which included evaluation of optical coherence tomography B-scans and enface optical coherence tomography scans of eyes with choroidal neovascularisation associated with chronic central serous chorioretinopathy. The characteristics of outer retinal tubulations such as number, shape and distribution were noted. The location of the outer retinal tubulations was correlated with autofluorescence. Outer retinal tubulations were detected in 9.1% of the eyes (9 out of 87 eyes). The average number of outer retinal tubulations in each eye was 4.7 ± 4.6. Spheroidal outer retinal tubulations were more common than the branching tubules. Although presence of outer retinal tubulations was mostly associated with inactive disease, two eyes had coexistent subretinal fluid. Outer retinal tubulations associated with choroidal neovascularisation in chronic central serous chorioretinopathy, though less frequent, when present are more numerous, mostly extrafoveal and more spheroidal in shape compared to outer retinal tubulations associated with age-related macular degeneration and other degenerative conditions.

Multimodal Imaging for Differential Diagnosis of Bietti Crystalline Dystrophy

To evaluate the diagnostic usefulness of multimodal imaging in patients with Bietti crystalline dystrophy (BCD). Retrospective cross-sectional study. Patients with chorioretinal dystrophy accompanied by crystalline-like deposits. The right eyes of the patients were analyzed. Fundus photograph, near-infrared reflectance (NIR), fundus autofluorescence (FAF), and OCT images were evaluated. Presence of hyperreflectivity on NIR, well-demarcated areas of decreased FAF, hyperreflective material at or on the retinal pigment epithelium-Bruch's membrane complex, and outer retinal tubulation were graded for each patient. All exons and franking introns of CYP4V2 were screened using Sanger sequencing. Sensitivity and specificity of the findings to discriminate patients with and without CYP4V2 mutation. In total, 33 patients were included in the study. Sanger sequencing revealed homozygous or compound heterozygous CYP4V2 mutations in 20 patients and heterozygous mutations in 2 patients. Among the investigated factors, hyperreflective appearance on NIR imaging yielded 100% sensitivity and 100% specificity in this cohort. The presence of outer retinal tubulation also was sensitive (95%), but specificity was moderate (45%). The revised diagnoses of patients without CYP4V2 mutations included retinitis pigmentosa, late-onset macular dystrophy, and central areolar choroidal dystrophy. Multimodal imaging, especially NIR imaging, is useful to differentiate BCD patients with CYP4V2 mutations from patients with other chorioretinal dystrophies accompanied by crystalline-like retinal deposits.

MULTIMODAL FUNDUS IMAGING OF OUTER RETINAL TUBULATIONS IN CHOROIDAL OSTEOMA PATIENTS.

To evaluate the morphological findings of outer retinal tubulations (ORTs) shown on multimodal imaging modalities in patients with choroidal osteoma. Nineteen eyes of 17 patients with choroidal osteoma underwent full clinical and imaging assessments. Color fundus photography, spectral-domain optical coherence tomography (OCT), and en face OCT were used to identify and detect the characteristics of ORT structures, including the shape, configuration, location, and distribution in the fundus. Optical coherence tomography angiography was implemented as an assist to differentiate tumor's feeder vessels from choroidal neovascularization. The correlations between age, gender, tumor features, best-corrected visual acuity at baseline, OCT characteristics, and the presence of ORTs were analyzed. Outer retinal tubulations were identified in five eyes (26.3%). All were located at the decalcified region of the tumor where the choroidal vessels, retinal pigment epithelium, and overlying outer retinal structures were considerably disrupted to varying degrees. With spectral-domain OCT, the ORTs appeared as one or multiple, round or ovoid, hyporeflective lumens with hyperreflective borders confined to the outer nuclear layer, sometimes with hyperreflective luminal content (four eyes, 80%). In one eye, ORTs were found at the focal choroidal excavation. On en face OCT, these tubulations exhibited different shapes, including a dendritic pattern in two eyes, a tube-like pattern in one eye, a circular pattern in one eye, and a hairpin pattern in one eye. Simultaneous OCT angiography imaging demonstrated that the area of choroidal neovascularization was underneath ORT in one eye and very close to ORT in two eyes. The ORTs of three eyes were above or adjacent to tumor's rich feeder vessels. Statistically, age (P = 0.007), greatest tumor linear dimension (P = 0.003), total tumor area (P = 0.002), decalcification area (P = 0.000), and the presence of intraretinal fluid (P = 0.01) and retinal pigment epithelium alterations (P = 0.038) within the foveola and central 1-mm region of patients with ORT were significantly different from those of patients without ORTs. The results of this study suggest that age, the greatest tumor linear dimension, total tumor area, decalcification area, and the presence of intraretinal fluid and retinal pigment epithelium alterations within the foveola and central 1-mm region might be risk factors for ORT formation. Spectral-domain OCT combined with en face OCT provides comprehensive imaging information for ORTs in choroidal osteoma.

Recent approaches to evaluating and monitoring geographic atrophy.

Given the increasing prevalence of geographic atrophy from age-related macular degeneration as the number of individuals over 85 increases throughout the world, as well as the recent increase in potential treatments to slow growth of geographic atrophy, this article discusses recent findings regarding retinal imaging of geographic atrophy to detect its presence or expansion over time. During the review period, the COMPLETE (Systemic complement inhibition with eculizumab for geographic atrophy in age-related macular degeneration) and the GATE (Randomized trial to evaluate tandospirone in geographic atrophy secondary to age-related macular degeneration) studies, respectively, reported no beneficial effects of intravenous eculizumab or tandospirone eye drops, respectively, identified on the growth of geographic atrophy. Several imaging and visual function studies have evaluated the role of various techniques using fundus autofluorescence, optical coherence tomography, microperimetry, or other investigator-initiated tools to assess geographic atrophy growth or progression over time, although the ideal imaging for geographic atrophy remains unknown. Some predictive factors for geographic atrophy growth recently suggested include genetic features, geographic atrophy characteristics in the fellow eye, or the presence of outer retinal tubulation on optical coherence tomography. Quantification of geographic atrophy is important for evaluating growth of geographic atrophy. Numerous new imaging techniques of geographic atrophy beyond human grading of fundus photographs or fluorescein angiograms have emerged, but the ideal imaging for geographic atrophy has yet to be determined.

Prevalence of outer retinal tubulation in eyes with choroidal neovascularization.

BackgroundOuter retinal tubulations (ORTs) are branching tubular structures located in the outer nuclear layer of the retina. The goal of this study is to determine the prevalence of ORTs observed in eyes with choroidal neovascularization (CNV) undergoing treatment with anti-angiogenic intravitreous injection (IVI) with anti-VEGF (vascular endothelial growth factor) at the Ophthalmology Department of a tertiary hospital in São Paulo, Brazil.MethodsThis is a descriptive study based on medical charts and Spectral-domain Optical Coherence Tomography (Sd-OCT) scans of 142 patients (158 eyes) treated between 2012 and 2014 with IVI of anti-VEGF for CNV. The patients’ data was analysed according to age, gender, pathology, presence of ORTs, and best corrected visual acuity (BCVA). Patients with and without ORTs were compared according to the last BCVA obtained using Chi square corrected by the Yates factor.ResultsORTs were found in a total of 40 out of 158 eyes (25.31 %) with CNV; in 33 out of 119 eyes (27.7 %) with neovascular age-related macular disease (AMD); in 5 out of 8 eyes (62.5 %) with neovascular angioid streaks; and in 2 out of 12 eyes (16.67 %) with myopic neovascular membranes. Most patients with ORTs had BCVA worse than 20/200, significantly worse BCVA than patients without ORTs.ConclusionsRecent studies have considered that the presence of ORTs is indicative of a photoreceptor degeneration process and may represent a final stage of multiple retinal degenerative pathologies. The prevalence of ORTs in eyes with CNV has not been well described, especially when considering the Brazilian population treated in a public health care system. In our study, ORTs were observed in only three different pathologies: neovascular AMD, neovascular angioid streaks and myopic neovascular membranes. The correct recognition of ORTs is fundamental for its differentiation from intraretinal cysts, for the latter is related to the activity of neovascular diseases, and usually guides anti-angiogenic therapy. We conclude that ORTs have a high prevalence in the population studied, and their correct identification presents relevant therapeutic implications.

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.

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.