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Journal of Bone and Mineral Metabolism Mar 2023Paget's disease of bone (PDB) is a skeletal disorder characterized by disorganized bone remodeling due to abnormal osteoclasts. Tumor necrosis factor receptor... (Review)
Review
INTRODUCTION
Paget's disease of bone (PDB) is a skeletal disorder characterized by disorganized bone remodeling due to abnormal osteoclasts. Tumor necrosis factor receptor superfamily member 11A (TNFRSF11A) gene encodes the receptor activator of nuclear factor kappa B (RANK), which has a critical role in osteoclast function. There are five types of rare PDB and related osteolytic disorders due to TNFRSF11A tandem duplication variants so far, including familial expansile osteolysis (84dup18), expansile skeletal hyperphosphatasia (84dup15), early-onset familial PDB (77dup27), juvenile PDB (87dup15), and panostotic expansile bone disease (90dup12).
MATERIALS AND METHODS
We reviewed a Japanese family with PDB, and performed whole-genome sequencing to identify a causative variant.
RESULTS
This family had bone symptoms, hyperphosphatasia, hearing loss, tooth loss, and ocular manifestations such as angioid streaks or early-onset glaucoma. We identified a novel duplication variant of TNFRSF11A (72dup27). Angioid streaks were recognized in Juvenile Paget's disease due to loss-of-function variants in the gene TNFRSF11B, and thought to be specific for this disease. However, the novel recognition of angioid streaks in our family raised the possibility of occurrence even in bone disorders due to TNFRSF11A duplication variants and the association of RANKL-RANK signal pathway as the pathogenesis. Glaucoma has conversely not been reported in any case of Paget's disease. It is not certain whether glaucoma is coincidental or specific for PDB with 72dup27.
CONCLUSION
Our new findings might suggest a broad spectrum of phenotypes in bone disorders with TNFRSF11A duplication variants.
Topics: Humans; Receptor Activator of Nuclear Factor-kappa B; Osteitis Deformans; Angioid Streaks; Glaucoma
PubMed: 36520195
DOI: 10.1007/s00774-022-01392-w -
Journal of Clinical Medicine Apr 2022Purpose: to quantitatively analyze choriocapillaris perfusion using swept-source optical coherence tomography angiography (SS-OCTA) in eyes presenting with angioid...
Purpose: to quantitatively analyze choriocapillaris perfusion using swept-source optical coherence tomography angiography (SS-OCTA) in eyes presenting with angioid streaks in comparison with control eyes. Methods: Macular 6 × 6 mm SS-OCTA scans were retrospectively analyzed in eyes with angioid streaks and in control eyes. En face choriocapillaris flow images were compensated with en face choriocapillaris structure images, followed by the Phansalkar local thresholding method (with a window radius of four and eight pixels). Quantitative analysis was performed in the four peripheral 1 × 1 mm corners of the 6 × 6 mm SS-OCTA image to include equidistant and comparable regions. The percentage of flow deficits (FD%), the number and size of the flow deficits (FDs) and the total area of FDs were then calculated. Results: 54 eyes of 31 patients were included in the study: 27 eyes diagnosed with angioid streaks and 27 controls. Analysis of the four 1 × 1 mm peripheral corners of the 6 × 6 mm SS-OCTA image showed that eyes with angioid streaks had a higher FD% compared to the control group (47.62 ± 8.06 versus 38.90 ± 6.38 using a radius of four pixels (p < 0.001); 48.37 ± 7.65 versus 39.66 ± 6.51 using a radius of eight pixels (p < 0.001). The average size of FDs as well as the total area size of the FDs were significantly higher in eyes with angioid streaks compared to control eyes (p < 0.001). Eyes with angioid streaks present reduced choriocapillaris flow compared to control eyes. Decreased choriocapillaris perfusion may contribute, among other factors, to the development of neovascularization and atrophy in patients with angioid streaks.
PubMed: 35456229
DOI: 10.3390/jcm11082134 -
Retinal Cases & Brief Reports Jul 2023To describe the steps leading to the development and progression of macular neovascularization (MNV) in angioid streaks.
PURPOSE
To describe the steps leading to the development and progression of macular neovascularization (MNV) in angioid streaks.
METHODS
The study was designed as retrospective, longitudinal case series. Patients with angioid streaks were investigated by means of multimodal imaging, including fundus autofluorescence and structural optical coherence tomography. Main outcome measures were hyperreflective foci and MNV progression steps.
RESULTS
Overall, 40 eyes (20 patients) affected by angioid streaks were evaluated. Over the follow-up, five eyes of five patients developed MNV. The mean follow-up was of 1.6 years. The mean number of anti-vascular endothelial growth factor injections was 4.35 ± 1.4. Mean best-corrected visual acuity was 0.53 ± 0.38 LogMAR at the MNV onset, improving to 0.42 ± 0.40 LogMAR at the end of the follow-up ( P > 0.05). Intraretinal hyperreflective foci onset and coalescence represented the first alterations occurring before the onset of the MNV. Anti-vascular endothelial growth factor treatment was associated with exudation relapsing and remitting, with still present intraretinal hyperreflective foci and pigment accumulation. The longitudinal analysis of our cohort of eyes outlined the event timeline: 1.2 months to find concentrated hyperreflective foci, 4.5 months to observe pigment organization through the outer nuclear layer, and 1.5 years to detect MNV.
CONCLUSION
Hyperreflective foci formation, concentration, and migration represent early alterations occurring before the onset of the MNV in angioid streaks.
Topics: Humans; Angiogenesis Inhibitors; Angioid Streaks; Retrospective Studies; Endothelial Growth Factors; Choroidal Neovascularization; Tomography, Optical Coherence; Retina; Fluorescein Angiography; Follow-Up Studies; Intravitreal Injections
PubMed: 34652303
DOI: 10.1097/ICB.0000000000001201 -
Retina (Philadelphia, Pa.) Mar 2015The aim of this study was to characterize peau d'orange and angioid streaks, characteristic findings in eyes of patients with pseudoxanthoma elasticum, by examining...
PURPOSE
The aim of this study was to characterize peau d'orange and angioid streaks, characteristic findings in eyes of patients with pseudoxanthoma elasticum, by examining fundus photography and optical coherence tomography imaging.
METHODS
Color photographs were evaluated directly as were the component red and green channels. Optical coherence tomography images were evaluated for reflectivity pattern of the band corresponding to the retinal pigment epithelium-Bruch membrane complex.
RESULTS
Eighteen eyes of 9 patients with a mean age of 48.7 years (range, 31-61 years) were examined; 7 of them were women. Color photographs showed areas of yellowish opacification that obscured visualization of the underlying choroid. At the outer edges of this confluent area, opacification were nonconfluent changes with similar appearance and these regions were typical peau d'orange. Angioid streaks occurred within and extended up to the outer border of the confluent opacification. Underlying choroidal details could be seen through the regions of peau d'orange and through the gaps in angioid streaks. The red channel image showed increased reflectivity from the confluent deposit and improved visualization of the choroidal vasculature, except where the confluent opacification was located. Optical coherence tomography imaging showed increased reflectivity from the outer border of the retinal pigment epithelium-Bruch membrane complex.
CONCLUSION
The findings suggest that the confluent region is the relevant lesion, not the subconfluent zone known as peau d'orange. Imaging characteristics of the confluent area of opacity are consistent with diffuse infiltration with calcium, a chief histologic abnormality of pseudoxanthoma elasticum. The name coquille d'oeuf was suggested for the confluent area of opacity as a consequence.
Topics: Adult; Angioid Streaks; Bruch Membrane; Female; Fluorescein Angiography; Humans; Male; Middle Aged; Pseudoxanthoma Elasticum; Retinal Pigment Epithelium; Tomography, Optical Coherence
PubMed: 25526100
DOI: 10.1097/IAE.0000000000000420 -
Eye (London, England) Dec 2019To assess hyperreflective foci (HF) number in angioid streaks (AS) by means of spectral-domain optical coherence tomography (SD-OCT). (Observational Study)
Observational Study
AIMS
To assess hyperreflective foci (HF) number in angioid streaks (AS) by means of spectral-domain optical coherence tomography (SD-OCT).
METHODS
Observational and cross-sectional study. Sixty-two eyes with AS and 62 controls underwent best-corrected visual acuity (BCVA), fundoscopy, and SD-OCT. HF were assessed on the horizontal scan of a six-line radial OCT, in the fovea (1500-μm diameter) and parafovea (500 μm external to the fovea), and sub-classified as retinal or choroidal, small or large. Eyes were distributed in one of four groups, as carrying foveal AS without choroidal neovascularization (CNV) (14 eyes), extra-foveal AS without CNV (14), active CNV (20), and inactive CNV (14). Primary outcome was HF assessment in AS. Secondary outcomes included their correlations with BCVA.
RESULTS
AS-affected eyes had higher HF numbers. Our sub-analysis revealed that patients with active CNV had a larger number of retinal and choroidal HF than all the other groups, whereas retinal and choroidal foci were significantly increased in inactive CNV only with respect to controls. Interestingly, patients with foveal AS showed HF number increase in the choroid and fovea. BCVA deterioration positively correlated with the total HF number found in the fovea and the choroid.
CONCLUSION
HF are significantly increased in patients with AS. Despite being especially evident in active CNV, the increasing number in eyes without CNV might suggest new pathogenetic aspects of the disease.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Angioid Streaks; Choroid; Cross-Sectional Studies; Female; Fluorescein Angiography; Fovea Centralis; Fundus Oculi; Humans; Male; Middle Aged; Prospective Studies; Tomography, Optical Coherence; Visual Acuity; Young Adult
PubMed: 31278381
DOI: 10.1038/s41433-019-0483-2 -
Ophthalmology. Retina Oct 2021To describe a clinical picture resembling classic multiple evanescent white dot syndrome (MEWDS) potentially triggered by previous or concurrent, apparently unrelated,... (Review)
Review
PURPOSE
To describe a clinical picture resembling classic multiple evanescent white dot syndrome (MEWDS) potentially triggered by previous or concurrent, apparently unrelated, ocular events and to provide a literature review of similar presentations.
DESIGN
Retrospective chart series and literature review.
PARTICIPANTS
Consecutive patients diagnosed with MEWDS at the Feinberg School of Medicine, Northwestern University, Chicago, Illinois, and the IRCCS San Raffaele Scientific Institute, Milan, Italy, between July 2019 and June 2020.
METHODS
Charts of patients were reviewed. Ophthalmic history, best-corrected visual acuity, spectral-domain OCT results, OCT angiography results, fundus autofluorescence results, ultra-widefield fluorescein angiography results, and indocyanine green angiography results were collected. A PubMed-based search was carried out for similar presentations using the terms MEWDS and white spot syndromes.
MAIN OUTCOME MEASURES
An ocular history positive for previous or concurrent ocular events in patients with MEWDS was sought in our cohort and the existing literature.
RESULTS
Five eyes of 4 patients (2 females; age range, 16-81 years) were included. The first eye had a history of bilateral Best vitelliform dystrophy and unilateral choroidal neovascularization. The second eye had angioid streaks complicated by choroidal neovascularization and underwent prior thermal laser photocoagulation. The third eye had a history of high myopia and a scleral buckle procedure for retinal detachment. The fourth patient had bilateral idiopathic retinochoroiditis. We identified 16 case reports from 5 previous publications that support a MEWDS-like reaction to previous ocular insults.
CONCLUSIONS
We suggest a MEWDS-like reaction may be elicited by ocular events in a subset of susceptible patients. We hypothesize that damage to the outer retina may play a role in triggering the local inflammatory response.
Topics: Adolescent; Adult; Aged, 80 and over; Angiogenesis Inhibitors; Coloring Agents; Computed Tomography Angiography; Female; Fluorescein Angiography; Glucocorticoids; Humans; Indocyanine Green; Intravitreal Injections; Male; Multimodal Imaging; Prednisone; Retinal Diseases; Retrospective Studies; Tomography, Optical Coherence; Vascular Endothelial Growth Factor A; Visual Acuity; White Dot Syndromes; Young Adult
PubMed: 33348087
DOI: 10.1016/j.oret.2020.12.007 -
International Journal of Retina and... 2016Outer 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...
BACKGROUND
Outer 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.
METHODS
This 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.
RESULTS
ORTs 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.
CONCLUSIONS
Recent 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.
PubMed: 27847624
DOI: 10.1186/s40942-016-0029-8 -
Retina (Philadelphia, Pa.) Nov 2018To analyze the optical coherence tomography angiography features of eyes affected with angioid streaks (AS) and to evaluate their ability to predict choroidal...
PURPOSE
To analyze the optical coherence tomography angiography features of eyes affected with angioid streaks (AS) and to evaluate their ability to predict choroidal neovascularization (CNV) activity.
METHODS
Angioid streaks were individuated from a pool of consecutive patients. Eyes with and without CNV were evaluated by multimodal imaging.
RESULTS
Thirty-eight eyes of 19 consecutive patients diagnosed with AS were included. Thirty of 38 eyes with CNV and 8 of 38 eyes without CNV were included. In the majority of cases, CNV showed on optical coherence tomography angiography tangled appearance always associated with signs of neovascular inactivity on multimodal imaging (100%-0%, inactive-active, respectively). Choroidal neovascularization cases showing interlacing appearance were often associated with signs of neovascular activity on multimodal imaging (71.4%-28.6%, active-inactive, respectively). Optical coherence tomography angiography revealed a total of 27 AS, of which 20 appeared as a choriocapillary rarefaction, and in 7 AS, optical coherence tomography angiography choriocapillary segmentation revealed an irregular vascular network, possibly representing fibrovascular tissue over the crack-like breaks in Bruch membrane.
CONCLUSION
Optical coherence tomography angiography is a noninvasive tool to detect the presence of CNV secondary to AS and to evaluate CNV activity. Optical coherence tomography angiography is able to add a novel element to the multimodal imaging characterization of AS.
Topics: Adult; Aged; Angioid Streaks; Bruch Membrane; Capillaries; Choroid; Disease Progression; Female; Fluorescein Angiography; Follow-Up Studies; Fundus Oculi; Humans; Male; Middle Aged; Retinal Vessels; Retrospective Studies; Tomography, Optical Coherence
PubMed: 28961674
DOI: 10.1097/IAE.0000000000001859 -
Oman Journal of Ophthalmology 2022This report describes a case of bilateral central serous chorioretinopathy (CSCR) in a patient with angioid streaks. A 39-year-old male was referred for worsening...
This report describes a case of bilateral central serous chorioretinopathy (CSCR) in a patient with angioid streaks. A 39-year-old male was referred for worsening vision. Best-corrected visual acuity (BCVA) at presentation was 5/10 in his right eye and 4/10 in his left eye. Fundus examination, fluorescein angiography, and optical coherence tomography were compatible with angioid streaks in both eyes associated with macular atrophy due to previous CSCR attack in the right eye and active nonresolving CSCR in the left eye. Macular laser photocoagulation was done in the left eye. After 3 months, subretinal fluid was absorbed and BCVA improved to 7/10. CSCR may occur rarely in patients with angioid streaks and ophthalmologists should consider CSCR in cases with angioid streaks and vision deterioration.
PubMed: 35388238
DOI: 10.4103/ojo.ojo_415_20 -
The British Journal of Ophthalmology May 2020To report the visual and anatomical outcomes in eyes with peripapillary choroidal neovascularisation (CNV) through 12 months.
PURPOSE
To report the visual and anatomical outcomes in eyes with peripapillary choroidal neovascularisation (CNV) through 12 months.
METHODS
This was a multicentre, retrospective, interventional case series which included treatment-naïve cases of peripapillary choroidal neovascular membrane (CNVM) with a minimum follow-up of 12 months. Multimodal imaging which comprised optical coherence tomography (OCT), fluorescein angiography and/or indocyanine green angiography was performed at baseline and follow-up visits. OCT parameters included central macular thickness (CMT), subfoveal choroidal thickness (SFCT) and retinal and choroidal thickness at site of CNV. Patients were treated with anti-vascular endothelial growth factors (VEGF) on protocol, photodynamic therapy, laser photocoagulation or a combination. Main outcome measures were change in best corrected visual acuity (BCVA) and OCT parameters.
RESULTS
A total of 77 eyes (74 patients; mean age: 61.9±21.8 years) with a mean disease duration of 9.2±14.1 months were included. BCVA improved significantly from 0.55±0.54 logMAR (20/70) at baseline to 0.29±0.39 logMAR (20/40) at 12 months (p<0.001) with a mean of 4.9±2.9 anti-VEGF injections. CMT, SFCT and retinal thickness at site of CNVM reduced significantly (p<0.001, <0.001 and 0.02, respectively) through 12 months. The most common disease aetiologies were neovascular age-related macular degeneration, and idiopathic, inflammatory and angioid streaks. Age (p=0.04) and baseline BCVA (p<0.001) were significant predictors of change in BCVA at 12 months.
CONCLUSION
Peripapillary CNVM, though uncommon, is associated with diverse aetiologies. Anti-VEGF agents lead to significant visual acuity and anatomical improvement in these eyes over long term irrespective of the aetiology.
Topics: Angiogenesis Inhibitors; Bevacizumab; Choroid; Choroidal Neovascularization; Female; Fluorescein Angiography; Follow-Up Studies; Fundus Oculi; Humans; Intravitreal Injections; Male; Middle Aged; Optic Disk; Retrospective Studies; Time Factors; Tomography, Optical Coherence; Treatment Outcome; Vascular Endothelial Growth Factor A; Visual Acuity
PubMed: 31401554
DOI: 10.1136/bjophthalmol-2019-314542