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Genes Aug 2021This study aimed to characterize Korean patients with pseudoxanthoma elasticum (PXE) presenting with angioid streaks. Retinal phenotypes were longitudinally evaluated by... (Observational Study)
Observational Study
This study aimed to characterize Korean patients with pseudoxanthoma elasticum (PXE) presenting with angioid streaks. Retinal phenotypes were longitudinally evaluated by multimodal ophthalmic imaging, and targeted gene panel sequencing for inherited retinal diseases was conducted. Seven subjects from unrelated families (median age, 51.2 years) were enrolled and followed for a median of 3.2 years. Four asymptomatic patients were significantly younger than three symptomatic patients with decreased visual acuity at presentation (mean age; 38.1 vs. 61.5 years, = 0.020). The asymptomatic patients maintained good vision (20/32 or better) and had no choroidal neovascularization (CNV) over the observation period. The symptomatic patients showed additional reduction in visual acuity and bilateral CNV occurrence during the longitudinal follow-up. Pathogenic variants were identified in all patients, leading to a diagnosis of PXE. Heterozygous monoallelic variants were identified in four patients and compound heterozygous variants were detected in three patients. Nine variants were identified, including one novel variant, c.2035G>T [p.Glu679Ter]. This is the first genetic study of Korean patients with PXE.
Topics: Adult; Angioid Streaks; Choroidal Neovascularization; Female; Fluorescein Angiography; Heterozygote; Humans; Male; Middle Aged; Multidrug Resistance-Associated Proteins; Pseudoxanthoma Elasticum; Republic of Korea; Retrospective Studies; Visual Acuity
PubMed: 34440381
DOI: 10.3390/genes12081207 -
Eye (London, England) May 2022To inspect the inter-reader agreement of different diagnostic modalities in identifying choroidal neovascularization (CNV) activity secondary to angioid streaks (AS) and...
OBJECTIVES
To inspect the inter-reader agreement of different diagnostic modalities in identifying choroidal neovascularization (CNV) activity secondary to angioid streaks (AS) and to analyze the prevalence of subretinal hyper-reflective material (SHRM) in active CNV.
METHODS
Retrospective study of patients with AS with active CNV; optical coherence tomography (OCT), OCT angiography (OCTA), fundus fluorescein angiography (FFA), and indocyanine green angiography (ICGA) from each patient were collected. Agreement between two readers using different diagnostic modalities is presented as free-marginal kappa (k) and 95% confidence interval (CI).
RESULTS
This study included 19 eyes of 12 patients with active CNV (5 naive and 14 previously treated). Agreement among readers on CNV activity was excellent for OCT (k =0.88; 95% CI 0.71-1.00), good for FFA (k = 0.70; 95% CI 0.46-0.94) and ICGA (k = 0.58; 95% CI 0.31-0.84), and poor using OCTA (k = 0.39; 95% CI 0.11-0.68). SHRM was the most common OCT finding associated with active CNV (100%); fuzzy borders were present in 53% of SHRM cases at baseline.
CONCLUSIONS
Identification of CNV activity in AS is challenging; OCT was the best modality to inspect active CNV. The identification of SHRM contributed to recognizing active CNV. Further studies are needed to assess the role of SHRM in anticipating prognosis and guiding treatment of CNV secondary to AS.
Topics: Angioid Streaks; Choroidal Neovascularization; Coloring Agents; Fluorescein Angiography; Humans; Indocyanine Green; Retrospective Studies; Tomography, Optical Coherence
PubMed: 33972707
DOI: 10.1038/s41433-021-01555-5 -
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 Science 2024We aimed to describe the epidemiology of angioid streaks (AS) and pseudoxanthoma elasticum (PXE), which are rare diseases, using a national claims database.
PURPOSE
We aimed to describe the epidemiology of angioid streaks (AS) and pseudoxanthoma elasticum (PXE), which are rare diseases, using a national claims database.
DESIGN
This was a population-based longitudinal cohort study.
PARTICIPANTS
A total of 126 million individuals were covered by the universal health coverage system in Japan.
METHODS
With permission from the Ministry of Health, Labor and Welfare, we accessed all data from the National Database of Health Insurance Claims and Specific Health Checkups of Japan, which contains the nationwide health insurance claims data for 126 million Japanese. We identified individuals with AS and PXE between January 2011 and December 2020. The incidence rates, prevalence, overlap of AS and PXE, and mean age at death were calculated.
MAIN OUTCOME MEASURES
The incidence rates and prevalence of AS and PXE.
RESULTS
A total of 6598 cases of AS and 1020 cases of PXE were identified during the 10-year study period. The incidence rates of AS and PXE were 0.52 (95% confidence interval, 0.48-0.56) and 0.08 (95% confidence interval, 0.07-0.10) per 100 000 person-years, respectively. On October 1, 2020, the prevalence of AS and PXE was 6.5 (95% confidence interval, 6.38-6.66) and 0.83 (95% confidence interval, 0.78-0.89) per 100 000 persons, respectively. The overlap of AS and PXE was 363 patients. The mean age at death of individuals with AS and PXE was 79.3 ± 0.51 and 77.1 ± 2.68 years, respectively.
CONCLUSION
This is the first population-based study to elucidate the epidemiology of AS and PXE. The mean age of death of both AS and PXE patients was younger than the mean life expectancy of the general Japanese population, thus, appropriate diagnosis and management are important to avoid preventable death.
FINANCIAL DISCLOSURES
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
PubMed: 37868801
DOI: 10.1016/j.xops.2023.100370 -
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 -
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 -
Eye (London, England) Mar 2021To assess the short-term and long-term visual outcomes in patients with choroidal neovascularisation (CNV) secondary to angioid streaks treated with intravitreal...
PURPOSE
To assess the short-term and long-term visual outcomes in patients with choroidal neovascularisation (CNV) secondary to angioid streaks treated with intravitreal anti-vascular endothelial growth factor (VEGF).
METHODS
Retrospective, single-centre study.
RESULTS
Overall 66 eyes of 52 patients were analysed. Follow-up ranged from 1 to 10 years. BCVA was 62 ETDRS letters at baseline, 68 letters at 1 year, 60 ETDRS letters at 5 years and 58 letters at 7 years. At 2 years patients gained 5.7 ETDRS letters from baseline but this gain was lost at 5 years. At 5 years there was an average loss of ETDRS letters from baseline of 3.3 letters. Sub-group analysis of subfoveal CNV showed worse outcome compared with eyes with extrafoveal and juxtafoveal CNV. In subfoveal CNV, BCVA was 53 ETDRS letters at 1 year (p < 0.0001) and 39 ETDRS at 5 years (p = 0.0005).
CONCLUSION
Anti-VEGF therapy is effective at stabilising visual acuity in patients with choroidal neovascularisation secondary to angiod streaks, however there is a gradual decline in visual acuity observed with 5-10 years of follow-up. Furthermore, subfoveal CNV have worse visual outcome compared with extrafoveal and juxtafoveal CNV.
Topics: Angiogenesis Inhibitors; Angioid Streaks; Choroidal Neovascularization; Fluorescein Angiography; Follow-Up Studies; Humans; Intravitreal Injections; Retrospective Studies; Visual Acuity
PubMed: 32461565
DOI: 10.1038/s41433-020-0979-9 -
European Journal of Ophthalmology May 2024To characterize and monitor choroidal neovascularisation (CNV) secondary to angioid streaks (AS) using multimodal imaging and to compare the results with conventional...
BACKGROUND
To characterize and monitor choroidal neovascularisation (CNV) secondary to angioid streaks (AS) using multimodal imaging and to compare the results with conventional fluorescein angiography (FA).
METHODS
A total of 11 eyes with CNV secondary to AS were included in this retrospective study. Multimodal morphological and functional assessment, including spectral-domain optical coherence tomography (SD-OCT), spectral-domain optical coherence tomography angiography (SD-OCTA), and fundus autofluorescence (FAF), were used to assess for evidence of CNV activity and compared with conventional FA. Morphological features of CNV were analyzed and treatment was continuously monitored using SD-OCT and SD-OCTA.
RESULTS
Our results showed that SD-OCTA provided reliable results for the detection of secondary CNV in AS that were comparable to conventional FA. With SD-OCTA, a total of 13 CNVs were detected in 11 eyes and analyzed by means of outer retinal choriocapillaris depth (ORCC) segmentation and the corresponding B-scans. Twelve of the 13 CNVs were classified as active and therefore required treatment. For treatment monitoring during intravitreal therapy (IVT), SD-OCTA was found to be a valuable diagnostic tool over a mean follow-up of 76 weeks.
CONCLUSIONS
Our study demonstrates that SD-OCTA can be routinely used to identify ill-defined CNV without dye-based angiography, especially in cases of CNV secondary to AS, where Bruch's membrane (BM) defects limit the diagnostic value of FA. Our results showed that non-invasive multimodal imaging facilitates sufficient CNV monitoring and treatment guidance. Further studies are warranted to provide more evidence in this rare retinal disease.
PubMed: 38803209
DOI: 10.1177/11206721241257976 -
Ophthalmology and Therapy May 2024To characterize the response to antivascular endothelial growth factor (VEGF) treatment of macular neovascularization (MNV) secondary to age-related macular degeneration...
INTRODUCTION
To characterize the response to antivascular endothelial growth factor (VEGF) treatment of macular neovascularization (MNV) secondary to age-related macular degeneration (AMD) with subclinical angioid streaks (AS) during a 2-year follow-up.
METHODS
Retrospective, longitudinal, case-control, and multicentric study. Among a cohort of neovascular AMD population, we selected patients with subclinical AS and treatment-naïve MNV treated with anti-VEGF for a 2-year follow-up. An age- and sex-matched control group with treatment-naïve MNV secondary to AMD without subclinical AS was selected. Demographics and differences in treatment response (i.e., number of injections needed, anatomical and functional outcomes) between the two groups were analyzed.
RESULTS
Among 102 eyes of 102 patients with neovascular AMD, 34 eyes of 34 patients (82 ± 6 years old) were included in the subclinical AS group, whereas 68 eyes of 68 patients (81 ± 6 years old, p = 0.342) in the control group. All eyes with subclinical AS presented RPD compared to 56% of eyes without subclinical AS (p < 0.001). During the 2-year follow-up, eyes with subclinical AS needed more injections (10.6 ± 3.2 vs 8.3 ± 3.1 injections for eyes with and without subclinical AS, respectively, p < 0.001). Visual acuity (VA) decreased during the treatment (from 0.53 ± 0.37 at the baseline to 0.69 ± 0.45 LogMAR at 2-year follow-up, p = 0.044) in eyes with subclinical AS; no VA changes were observed in the control group (p = 0.798). RPE atrophy at the end of the 2-year follow-up affected 74% of cases with subclinical AS and 29% of cases of the control group (p < 0.001).
CONCLUSIONS
MNVs secondary to AMD with subclinical AS are characterized by worse functional and anatomical outcomes after 2-year anti-VEGF treatment compared to MNV secondary to AMD without subclinical AS, supporting the different pathophysiological mechanisms involved in this recently described AMD phenotype.
PubMed: 38451452
DOI: 10.1007/s40123-024-00918-x -
Cureus Apr 2024Angioid streaks (AS) are recognized as irregular, linear dehiscences of Bruch's membrane, often associated with systemic diseases. We present the case of a 50-year-old...
Angioid streaks (AS) are recognized as irregular, linear dehiscences of Bruch's membrane, often associated with systemic diseases. We present the case of a 50-year-old woman initially diagnosed with AS during a routine optometric examination. Subsequent ophthalmological evaluation revealed bilateral AS with calcified drusen. Two years post-diagnosis, she developed blurred vision in her right eye due to the choroidal neovascular membrane adjacent to the macular AS. Further evaluation uncovered clinical signs consistent with pseudoxanthoma elasticum (PXE), including characteristic skin lesions. A multidisciplinary approach involving ophthalmology, dermatology, and cardiovascular specialists was initiated. Histopathological confirmation of PXE was obtained through a skin biopsy. PXE, an autosomal recessive disorder characterized by elastin calcification, presents systemic manifestations necessitating comprehensive evaluation and monitoring. This case demonstrates the importance of recognizing ocular complications in PXE and advocates for early multidisciplinary intervention to mitigate potential vision and life-threatening outcomes.
PubMed: 38741802
DOI: 10.7759/cureus.58104