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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 -
Oman Journal of Ophthalmology 2018Pseudoxanthoma elasticum is a hereditary disorder that affects primarily the elastic tissues in the skin, the eyes and the blood vessels.
Pseudoxanthoma elasticum is a hereditary disorder that affects primarily the elastic tissues in the skin, the eyes and the blood vessels.
PubMed: 29563708
DOI: 10.4103/ojo.OJO_123_2016 -
Ophthalmology. Retina 2017To investigate the application of noninvasive ultra-widefield (UWF) imaging in patients with angioid streaks secondary to pseudoxanthoma elasticum (PXE) and to compare...
PURPOSE
To investigate the application of noninvasive ultra-widefield (UWF) imaging in patients with angioid streaks secondary to pseudoxanthoma elasticum (PXE) and to compare detected findings with those obtainable with 7 standard 30° fields (7SF) imaging.
DESIGN
Cross-sectional, observational study.
PARTICIPANTS
Forty eyes of 20 consecutive patients with angioid streaks secondary to PXE (8 women and 12 men; mean age, 56.9 ± 12.3 years).
METHODS
Consecutive patients with angioid streaks secondary to PXE seeking treatment between January and June 2016 at the Medical Retina & Imaging Unit of the Department of Ophthalmology, University Vita-Salute San Raffaele, underwent UWF imaging (California; Optos PLC, Dunfermline, UK). Ultra-widefield color images and fundus autofluorescence (FAF) were evaluated. Ultra-widefield findings then were compared with those obtainable with 7SF.
MAIN OUTCOME MEASURES
Types and location of retinal lesions secondary to PXE.
RESULTS
Peripheral lesions not entirely visible with 7SF were identified in 29 of 40 eyes (72.5%; P < 0.0001). These peripheral lesions included peau d'orange (52.5% of the eyes), coquille d'oeuf (52.5%), cracked eggshell (5.0%), comet lesions (27.5%), peripheral retinal degenerations (17.5%), parastreak atrophies (10.0%), and peripheral hemorrhage (5.0%). Furthermore, chorioretinal atrophies, drusen of the optic disc, cracked eggshell, pattern-like dystrophies, and retinal hemorrhages associated with angioid streaks were observed on digital color or FAF images, or both, and described.
CONCLUSIONS
Ultra-widefield imaging showed valuable usefulness in patients with angioid streaks by providing in a single image the entire spectrum of retinal alterations associated with PXE. Peripheral lesions often are present in patients with angioid streaks and may be missed with 7SF imaging. A careful examination of fundus periphery should be performed during screening and follow-up visits.
PubMed: 31047269
DOI: 10.1016/j.oret.2016.10.005 -
American Journal of Ophthalmology Apr 2021To describe the retinal findings of patients affected by pseudoxanthoma elasticum (PXE) using a multimodal imaging approach including flood-illumination adaptive optics...
PURPOSE
To describe the retinal findings of patients affected by pseudoxanthoma elasticum (PXE) using a multimodal imaging approach including flood-illumination adaptive optics ophthalmoscopy (AO).
DESIGN
Retrospective case series.
MATERIALS AND METHODS
Patients affected by PXE were retrospectively studied. Clinical data, color, infrared and autofluorescence fundus imaging, optical coherence tomographic scans, and AO examinations were collected. Furthermore, the photoreceptor count was assessed. PXE diagnosis was confirmed by a positive skin biopsy and/or genetic testing.
RESULTS
Twenty-one eyes of 18 patients (11 females and 7 males) were included in the study. In 3 patients, both eyes were studied. The mean age at examination was 37.7 ± 16.4 years (range 14-66) and the mean best-corrected visual acuity (BCVA) was 0.1 ± 0.2 logMAR (range 0-1). We identified 3 types of angioid streaks (AS) using AO: "crack," "band," and "hypopigmented." The first 2 were very similar and they differed in size; the third type showed specific clinical features. Comet lesions appeared as hyper-reflective round lesions on AO imaging. In all eyes, the cone mosaic appeared reduced inside the streaks compared to the neighboring areas (13,532.8 ± 1,366.5 cones/mm vs 16,817.1 ± 1,263.0 cones/mm respectively).
CONCLUSION
Using AO imaging in PXE-related retinopathy, we were able to observe the presence of the photoreceptors within the angioid streaks, differentiate 3 types of angioid streaks, based on size and reflective features, and identify the very small crystalline bodies not identifiable using other retinal imaging techniques.
Topics: Adolescent; Adult; Aged; Female; Fluorescein Angiography; Fundus Oculi; Humans; Male; Middle Aged; Multidrug Resistance-Associated Proteins; Multimodal Imaging; Ophthalmoscopy; Optical Imaging; Photoreceptor Cells, Vertebrate; Pseudoxanthoma Elasticum; Retinal Diseases; Retrospective Studies; Tomography, Optical Coherence; Visual Acuity; Young Adult
PubMed: 33316262
DOI: 10.1016/j.ajo.2020.12.007 -
Ophthalmic Genetics Jun 2019: To evaluate the fundus phenotype of young patients affected with Pseudoxantoma Elasticum (PXE). : Retrospective case series of five young PXE patients. Clinical data,...
: To evaluate the fundus phenotype of young patients affected with Pseudoxantoma Elasticum (PXE). : Retrospective case series of five young PXE patients. Clinical data, ultra-widefield imaging (color, red-free (RF), choroidal (Ch) and fundus autofluorescence (FAF)) and OCT examination were collected. Diagnosis was confirmed by the characteristic histopathological abnormalities in skin biopsies and genetic testing results. : Five patients, 2 males and 3 females (mean age 16 years, range 12-20 years) were included in our study. The visual acuity was 20/20 in all subjects. Fundus evaluation revealed peau d'orange in all patients: multiple, yellowish/white round lesions, scattered from the posterior pole to the mid-peripheral retina of each eye. Ultra-wide field imaging allows us to capture and describe the entire area of coquille d'oeuf/peau d'orange in a single picture, facilitating their identification and discrimination. Angiod streaks were visible in both eyes of four patients. In one patient optic disc drusen were detected in both eyes. All patients presented comet lesions. : PXE-related retinopathy findings: peau d'orange/coquille d'oeuf, angioid streaks, comet lesions and drusen of the optic disc were present early in PXE patients. The early detection of coquille d'oeuf/peau d'orange revealed a preferable area into midperiphery where Bruch's membrane will be more likely to be affected.
Topics: Adolescent; Adult; Child; Female; Humans; Male; Prognosis; Pseudoxanthoma Elasticum; Retinal Diseases; Retrospective Studies; Visual Acuity; Young Adult
PubMed: 31269855
DOI: 10.1080/13816810.2019.1627466 -
Current Eye Research 2016The aim of this study is to investigate the possible corneal biomechanical changes in patients with angioid streaks and to understand if the calcified and thickened... (Comparative Study)
Comparative Study
PURPOSE
The aim of this study is to investigate the possible corneal biomechanical changes in patients with angioid streaks and to understand if the calcified and thickened Bruch's membrane associated with angioid streaks influences elasticity of the eye and intraocular pressure.
MATERIALS AND METHODS
Twelve eyes of 12 patients with angioid streaks (six males and six females) and 12 eyes of 12 age- and sex-matched healthy volunteers were enrolled in the study. Corneal hysteresis (CH), corneal resistance factor (CRF), corneal compensated intraocular pressure (IOPcc) and Goldmann-correlated intraocular pressure (IOPg) were measured with an Ocular Response Analyzer (ORA). Central corneal thickness (CCT) was measured with an ultrasound pachymeter.
RESULTS
Mean CRF and IOPg values in eyes with angioid streaks (12.10 ± 1.27 and 17.76 ± 2.73, respectively) were significantly higher than those in matched control eyes (10.70 ± 1.28 and 14.67 ± 2.72, respectively; p = 0.01 for CRF, p = 0.007 for IOPg). There was no statistically significant difference between eyes with angioid streaks and matched control eyes in measured CH, IOPcc and CCT values (p = 0.29, p = 0.09 and p = 0.86, respectively).
CONCLUSIONS
This study revealed that angioid streaks can affect corneal biomechanical properties by increasing CRF, as compared to the healthy eyes. Increased CRF means increased resistance for effect of IOP on eye so it can be speculated that these patients tend to be more protected for glaucoma.
Topics: Adult; Angioid Streaks; Biomechanical Phenomena; Bruch Membrane; Cornea; Corneal Pachymetry; Elasticity; Female; Fluorescein Angiography; Healthy Volunteers; Humans; Intraocular Pressure; Male; Middle Aged; Prospective Studies; Tonometry, Ocular
PubMed: 25942046
DOI: 10.3109/02713683.2015.1023461 -
Ophthalmic Surgery, Lasers & Imaging... Jun 2018To report the association of angioid streaks in patients with Pseudoxanthoma elasticum (PXE) with reticular pseudodrusen (RPD), thin choroid, and retinal pigment...
BACKGROUND AND OBJECTIVE
To report the association of angioid streaks in patients with Pseudoxanthoma elasticum (PXE) with reticular pseudodrusen (RPD), thin choroid, and retinal pigment epithelium (RPE) atrophy using swept-source optical coherence tomography (SS-OCT) and short-wave autofluorescence (SWAF).
PATIENTS AND METHODS
Retrospective cross-sectional study. Records of consecutive patients with angioid streaks due to PXE, who presented with a decrease of vision due to choroidal neovascularization (CNV), were reviewed for best-corrected visual acuity, color fundus photographs, SS-OCT, SWAF, and red-free images with special emphasis on presence or absence of RPD, subfoveal choroidal thickness (SFCT), and RPE atrophy.
RESULTS
Sixteen eyes of eight patients with a mean age of 45.5 years ± 9.4 years were enrolled in the study. RPD were seen in 10 of the 16 eyes and were seen commonly along the superotemporal quadrant. Mean subfoveal thickness in study eyes (175.7 μm ± 37.2 μm) was significantly reduced when compared to controls (286.4 μm ± 40.8 μm). The mean SFCT was similar between the eyes with and without CNV. Four eyes had RPE atrophy in the macular area, whereas four eyes had peripapillary RPE atrophy.
CONCLUSIONS
Angioid streaks in PXE are associated with RPD, thin choroid, and RPE atrophy. These features occur at a younger age as compared to age-related macular degeneration and appear to be interrelated because of single pathophysiological mechanism. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:402-408.].
Topics: Adult; Angioid Streaks; Choroid; Cross-Sectional Studies; Female; Humans; Male; Middle Aged; Optical Imaging; Pseudoxanthoma Elasticum; Retinal Drusen; Retinal Pigment Epithelium; Retrospective Studies; Tomography, Optical Coherence
PubMed: 29927467
DOI: 10.3928/23258160-20180601-04 -
Orvosi Hetilap Jun 2019Angioid streaks are defined as the special morphological alteration of the fundus; the most common clinical manifestations are irregular, reddish brownish stripes around...
Angioid streaks are defined as the special morphological alteration of the fundus; the most common clinical manifestations are irregular, reddish brownish stripes around the optic nerve head or on the posterior pole. On the basis of histological examination, the cause of this phenomenon is the breaks and continuity deficiencies in the thin layer of Bruch membrane caused by the degeneration of elastic fibers. The aim of this study is to present the ocular complication of this rare entity through the description of three cases, and to draw attention to systemic diseases in the background. In our first and third cases, pseudoxanthoma elasticum (Grönblad-Strandberg syndrome) was in the background, while in our second case, hematological disease was confirmed. In our first and second cases, the ocular complication was the choroidal neovascularization, which we treated with intravitreal anti-VEGF injection. In our third case, the choroidal rupture was the ocular complication, caused by trauma. Angioid streaks on the fundus may be sub-phenomena of systemic diseases, the detection, differential diagnosis and treatment require interdisciplinary collaboration between associate physicians. Orv Hetil. 2019; 160(25): 994-1000.
Topics: Adult; Angioid Streaks; Antibodies, Monoclonal, Humanized; Antineoplastic Agents, Immunological; Bevacizumab; Bruch Membrane; Choroidal Neovascularization; Female; Humans; Intravitreal Injections; Male; Middle Aged; Pseudoxanthoma Elasticum; Tomography, Optical Coherence; Treatment Outcome; Visual Acuity
PubMed: 31203643
DOI: 10.1556/650.2019.31425 -
Retinal Cases & Brief Reports Mar 2024To report a case of recurrent acute retinopathy associated with pseudoxanthoma elasticum and to propose a reappraisal of this entity based on multimodal imaging analysis.
PURPOSE
To report a case of recurrent acute retinopathy associated with pseudoxanthoma elasticum and to propose a reappraisal of this entity based on multimodal imaging analysis.
METHODS
Retrospective case report. High-resolution optical coherence tomography (high-res OCT), ultra-widefield imaging, and widefield swept-source OCT angiography and en face OCT were performed.
RESULTS
A man in his 40s diagnosed with pseudoxanthoma elasticum and angioid streaks presented with two distinct episodes of acute retinopathy in his right eye during a one-year follow-up period. Acute retinopathy was characterized by rapid vision loss. High-res OCT showed multifocal hyperreflective lesions splitting the retinal pigment epithelium/Bruch membrane complex and associated with focal choroidal thickening. After the first episode, OCT angiography confirmed the development of macular neovascularization at the site of a previous inflammatory lesion. During the second episode, multimodal images showed findings consistent with epiphenomenon multiple evanescent white dot syndrome (EpiMEWDS). On en face widefield OCT, acute retinopathy was characterized by multiple hyperreflective spots scattered at the posterior pole.
CONCLUSION
Recurrence of acute retinopathy can be observed in patients with pseudoxanthoma elasticum and angioid streaks. Multimodal imaging shows that some lesions of pseudoxanthoma elasticum-associated acute retinopathy closely resemble those of punctate inner choroidopathy/idiopathic multifocal choroiditis.
Topics: Male; Humans; Pseudoxanthoma Elasticum; Angioid Streaks; Retrospective Studies; Retinal Diseases; Tomography, Optical Coherence; Fluorescein Angiography
PubMed: 36730817
DOI: 10.1097/ICB.0000000000001363 -
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