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https://www.readbyqxmd.com/read/29709427/abcc6-mutations-and-early-onset-stroke-two-cases-of-a-typical-pseudoxanthoma-elasticum
#1
Marta Bertamino, Mariasavina Severino, Alice Grossi, Marta Rusmini, Domenico Tortora, Carlo Gandolfo, Silvia Pederzoli, Clara Malattia, Paolo Picco, Pasquale Striano, Isabella Ceccherini, Maja Di Rocco
Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by fragmented and mineralized elastic fibers in the mid-dermis of the skin, eye, digestive tract and cardiovascular system. Clinical presentation includes typical skin lesions, ocular angioid streaks, and multisystem vasculopathy. The age of onset varies considerably from infancy to old age, but the diagnosis is usually made in young adults due to frequent absence of pathognomonic skin and ocular manifestations in early childhood. We report two children with PXE presenting with isolated multisystem vasculopathy and early-onset stroke...
April 12, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29687087/multimodal-imaging-characteristics-of-quiescent-type-1-neovascularization-in-an-eye-with-angioid-streaks
#2
Jale Mentes, Irmak Karaca, Figen Sermet
Purpose: To present the multimodal imaging characteristics including optical coherence tomography angiography (OCTA) as well as indocyanine green angiography (ICGA) of quiescent type 1 neovascularization (NV) in an asymptomatic eye with angioid streaks (AS). Observations: A 67-year-old male patient was admitted to our clinic for routine eye examination. The presence of a quiescent type 1 NV was detected on both ICGA and OCTA in juxtafoveal localization under the retinal pigment epitheliumin the right eye...
June 2018: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29623251/central-serous-chorioretinopathy-with-angioid-streaks-a-rare-combination
#3
Ambreen Sarmad, Fadi Alfaqawi, Monali Chakrabarti, Samer Elsherbiny
Purpose: This rare case shows the presence of both angioid streaks (AS) and central serous chorioretinopathy (CSC) in the same eye. Methods: A 41-year-old Caucasian male who also has a positive family history of AS was diagnosed with angioid streaks. He was followed for few years, later developed CSC in his good eye. Results: Fundus fluorescein led to the diagnosis of CSC and indocyanine green angiography ruled out the possibility of idiopathic polypoidal choroidal vasculopathy (IPCV). The CSC followed a chronic course of non-resolution and finally half fluence photodynamic therapy was performed...
2018: GMS Ophthalmology Cases
https://www.readbyqxmd.com/read/29480271/to-laser-or-not
#4
Vishal Govindhari, Jay Chhablani
A 64-year-old male patient presented to the clinic with diminished vision in his right eye for the past 2 years. Examination revealed a best-corrected visual acuity (BCVA) of counting fingers at 1 m with a scarred choroidal neovascular membrane (CNVM) in the right eye while the left eye had a BCVA of 20/20 with a small peripapillary subretinal hemorrhage along with angioid streaks in both eyes. Multimodal imaging revealed the presence of a CNVM in the left eye which was treated with focal thermal laser. Regression was noted on optical coherence tomography angiography at 1 month post-laser, but at 3-month follow-up, exacerbation of the CNVM was observed...
March 2018: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29443807/multimodal-imaging-of-angioid-streaks-associated-with-turner-syndrome
#5
Bing Q Chiu, Edmund Tsui, Syed Amal Hussnain, Irene A Barbazetto, R Theodore Smith
PURPOSE: To report multimodal imaging in a novel case of angioid streaks in a patient with Turner syndrome with 10-year follow-up. METHODS: Case report of a patient with Turner syndrome and angioid streaks followed at Bellevue Hospital Eye Clinic from 2007 to 2017. Fundus photography, fluorescein angiography, and optical coherence tomography angiography were obtained. RESULTS: Angioid streaks with choroidal neovascularization were noted in this patient with Turner syndrome without other systemic conditions previously correlated with angioid streaks...
February 13, 2018: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/29279654/intravitreal-bevacizumab-for-choroidal-neovascularization-associated-with-angioid-streaks-long-term-results
#6
T Lekha, Hari Narayan Prasad, Renuka Nikit Sarwate, Manasi Patel, S Karthikeyan
PURPOSE: The purpose of the study was to evaluate the long-term efficacy and safety of intravitreal bevacizumab (IVB) in the treatment of choroidal neovascularization (CNV) secondary to angioid streaks (AS). MATERIALS AND METHODS: Noncomparative, interventional retrospective case series involving ten patients (15 eyes) with a minimum follow-up of 25 months following IVB for AS-associated CNV. Demographic and clinical details at baseline and during follow-up were collected from patient records...
July 2017: Middle East African Journal of Ophthalmology
https://www.readbyqxmd.com/read/29114961/the-importance-of-dermoscopy-for-the-diagnosis-of-acquired-bilateral-telangiectatic-macules-the-angioid-streak-pattern-reveals-underlying-chronic-liver-disease
#7
G-W Kim, K Shin, T-W Kim, H-S You, H-J Jin, W-H Shim, H-S Kim, H-C Ko, B-S Kim, M-B Kim
BACKGROUND: Acquired bilateral telangiectatic macules (ABTM) are a newly recognized disease entity, which manifest as multiple telangiectatic pigmented macules confined mostly to the upper arms. OBJECTIVES: To evaluate clinical and dermoscopic features in a group of 50 patients with ABTM and to determine the diagnostic usefulness of dermoscopy in ABTM. METHODS: Patients were selected from two tertiary teaching hospitals in Korea [Pusan National University Hospitals (Busan and Yangsan)]...
November 8, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28978321/a-case-of-pseudoxanthoma-elasticum-with-proliferative-diabetic-retinopathy
#8
Keigo Kakurai, Maiko Hayashi, Kanako Yamada, Norihiko Ishizaki, Yumiko Yonemoto, Seita Morishita, Ryohsuke Kohmoto, Takaki Sato, Teruyo Kida, Tsunehiko Ikeda
BACKGROUND: To report the case of a patient with pseudoxanthoma elasticum (PXE) and proliferative diabetic retinopathy (PDR), and discuss the relationship between PXE and diabetic retinopathy (DR). CASE PRESENTATION: A 47-year-old man with PXE presented with angioid streaks and DR in both eyes, and bilateral panretinal photocoagulation was performed for treatment. Vitrectomy had previously been performed in his right eye for vitreous hemorrhage due to PDR. Systemic findings included multiple, discrete, symmetrical, small yellow papules bilaterally in the axilla and inguinal region...
October 4, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28961674/optical-coherence-tomography-angiography-features-of-angioid-streaks
#9
Eleonora Corbelli, Adriano Carnevali, Alessandro Marchese, Maria Vittoria Cicinelli, Lea Querques, Riccardo Sacconi, Francesco Bandello, Giuseppe Querques
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...
September 27, 2017: Retina
https://www.readbyqxmd.com/read/28912966/abcc6-gene-analysis-in-20-japanese-patients-with-angioid-streaks-revealing-four-frequent-and-two-novel-variants-and-pseudodominant-inheritance
#10
Satoshi Katagiri, Yuya Negishi, Kei Mizobuchi, Mitsuyoshi Urashima, Tadashi Nakano, Takaaki Hayashi
PURPOSE: To report the spectrum of ABCC6 variants in Japanese patients with angioid streaks (AS). PATIENTS AND METHODS: This was a single-center cohort study. The medical records of 20 patients with AS from 18 unrelated Japanese families were retrospectively reviewed. Screening of the ABCC6 gene (exons 1 to 31) was performed using PCR-based Sanger sequencing. RESULTS: Eight ABCC6 variants were identified as candidate disease-causing variants...
2017: Journal of Ophthalmology
https://www.readbyqxmd.com/read/28893457/-treatment-of-choroidal-noevascularization-secondary-to-angioid-streaks-with-bevacizumab-and-response-experience-of-the-ophthalmology-department-of-hassan-ii-university-hospital
#11
M El Bahloul, F Chraïbi, S Aounzou, A Salam Diarra, M Abdellaoui, I Benatiya, H Tahri
PURPOSE: To evaluate the efficacy of intravitreal bevacizumab in the treatment of choroidal neovascularization (CNV) secondary to angioid streaks. METHODS: We conducted a prospective study in the ophthalmology department of Hassan II university hospital in Fez, including 12 eyes of 7 patients with CNV associated with angioid streaks. We injected 8 eyes with bevacizumab 1.25mg; best corrected visual acuity (BCVA), fundus examination, fluorescein angiography and optical coherence tomography were performed and analyzed for all patients before and after treatment...
November 2017: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/28724827/angioid-streaks-in-a-case-of-camurati-engelmann-disease
#12
Bet L Tugcu, Taha Sezer, Ahmet Elbay, Hakan Özdemir
Camurati-Engelmann disease (CED) is a rare autosomal dominant disease with various phenotypic expressions. The hallmark of the disease is bilateral symmetric diaphyseal hyperostosis of the long bones with progressive involvement of the metaphysis. Ocular manifestations occur rarely and mainly result from bony overgrowth of the orbit and optic canal stenosis. We report a case of CED showing angioid streaks (ASs) in both fundi with no macular involvement and discuss the possible theories of the pathogenesis of AS in this disease...
July 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28704254/efficacy-and-safety-of-ranibizumab-for-the-treatment-of-choroidal-neovascularization-due-to-uncommon-cause-twelve-month-results-of-the-minerva-study
#13
Timothy Y Y Lai, Giovanni Staurenghi, Paolo Lanzetta, Frank G Holz, Shiao Hui Melissa Liew, Sabine Desset-Brethes, Harry Staines, Philip G Hykin
PURPOSE: To evaluate the efficacy and safety of ranibizumab 0.5 mg in adult patients with choroidal neovascularization because of an uncommon cause enrolled in the 12-month MINERVA study. METHODS: In this Phase III, double-masked study, adult (≥18 years) patients (N = 178) were randomized 2:1 to receive either ranibizumab (n = 119) or sham (n = 59) at baseline and, if needed, at Month 1 and open-label individualized ranibizumab from Month 2. Best-corrected visual acuity change from baseline to Month 2 (primary endpoint) and Month 12, treatment exposure, and safety over 12 months were reported...
July 12, 2017: Retina
https://www.readbyqxmd.com/read/28641290/long-term-follow-up-of-choroidal-neovascularization-due-to-angioid-streaks-with-pro-re-nata-intravitreal-anti-vegf-treatment
#14
MULTICENTER STUDY
Giovanni Giacomelli, Lucia Finocchio, Ilaria Biagini, Andrea Sodi, Vittoria Murro, Ugo Introini, Monica Varano, Francesco Bandello, Ugo Menchini
PURPOSE: To evaluate the long-term outcomes of intravitreal anti-vascular endothelial growth factor (VEGF) drugs with a pro re nata (PRN) regimen for the treatment of choroidal neovascularization (CNV) secondary to angioid streaks (AS). METHODS: This is a retrospective, multicenter, noncomparative case series of consecutive AS eyes affected by treatment-naïve CNV. A complete ophthalmologic examination was performed every 30-45 days after the loading phase, including fluorescein angiography and/or optical coherence tomography...
2017: Ophthalmologica. Journal International D'ophtalmologie
https://www.readbyqxmd.com/read/28622313/optical-coherence-tomography-analysis-of-evolution-of-bruch-s-membrane-features-in-angioid-streaks
#15
A Marchese, M Parravano, A Rabiolo, A Carnevali, E Corbelli, M V Cicinelli, M Battaglia Parodi, L Querques, F Bandello, G Querques
PurposeTo describe optical coherence tomography (OCT) features in the Bruch's membrane (BM) of eyes with angioid streaks (AS) and evaluate their evolution over the follow-up.Patients and methodsPatients with AS presenting between March 2016 and September 2016 at two tertiary referral centers were consecutively recruited in this study. Eligibility criteria included prior spectral domain (SD)-OCT images, taken at least 3 months before at the same referral center, with automated eye tracking and image alignment modules...
November 2017: Eye
https://www.readbyqxmd.com/read/28574138/detection-of-nonexudative-choroidal-neovascularization-secondary-to-angioid-streaks-using-optical-coherence-tomography-angiography
#16
Konstantinos D Andreanos, Tryfon Rotsos, Chryssanthi Koutsandrea, Georgios D Kymionis, Ilias Georgalas, Ioannis D Ladas
PURPOSE: To present a case of nonexudative choroidal neovascularization secondary to angioid streaks in a patient with pseudoxanthoma elasticum. The lesion was monitored over an 8-month period with the use of optical coherence tomography angiography. METHODS: Case report. RESULTS: The neovascular tissue area increased by 0.160 mm2 over a period of 8 months without any sign of exudation seen on optical coherence tomography or fluorescein angiography...
August 30, 2017: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/28512425/long-term-follow-up-of-polypoidal-choroidal-vasculopathy-secondary-to-angioid-streaks-treated-by-intravitreal-aflibercept-and-ranibizumab
#17
James G Wong, Katherine Yu Qian
PURPOSE: Angioid streaks (AS) are dehiscences in Bruch's membrane that may be idiopathic or associated with numerous systemic illnesses. Polypoidal choroidal vasculopathy (PCV) is an underdiagnosed exudative chorioretinopathy often characterised by serosanguineous detachments of the pigmented epithelium. The use of the anti-VEGF agents ranibizumab and aflibercept in the management of PCV secondary to AS has not been previously documented. We report 3 patients with active PCV secondary to AS, 1 of which had a family history of PCV secondary to AS, not previously reported in the literature...
January 2017: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/28499057/adaptive-optics-scanning-laser-ophthalmoscopy-and-multimodal-imaging-of-peau-d-orange-in-pseudoxanthoma-elasticum
#18
Alex C Onishi, Peter L Nesper, Amani A Fawzi
A 41-year-old male with pseudoxanthoma elasticum who presented with progressive vision loss in his left periphery is discussed. Bilateral angioid streaks, optic disc drusen, choroidal neovascularization, and peau d'orange were present. Imaging of the area with peau d'orange with adaptive optics scanning laser ophthalmoscopy and en face optical coherence tomography at Bruch's membrane (BM) revealed a pattern identical to the patches of peau d'orange visible with conventional fundus imaging techniques. These results show that structural abnormalities at the level of BM, likely a result of calcification, correlate with the characteristic "orange peel" pattern known as peau d'orange...
May 1, 2017: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/28486967/pseudoxanthoma-elasticum
#19
REVIEW
Dominique P Germain
Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein leads to ectopic mineralization that is most apparent in the elastic tissues of the skin, eyes and blood vessels. The clinical prevalence of PXE has been estimated at between 1 per 100,000 and 1 per 25,000, with slight female predominance. The first clinical sign of PXE is almost always small yellow papules on the nape and sides of the neck and in flexural areas...
May 10, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28282700/-choroidal-neovascularisation-other-than-typical-neovascular-age-related-macular-degeneration
#20
D Sandner
Choroidal neovascularisation (CNV) in the context of exsudative age-related macular degeneration (nAMD) can be divided into type 1 (occult) and type 2 (classical) membranes. Retinal angiomatous proliferation (RAP) or polypoidal choroidal vasculopathy (PCV) are "rare subtypes" of chorioretinal neovascularisation and are distinguished by their distinct morphology and the sometimes worse response to therapy. Chorioretinal anastomosis, severe exsudates with serosanguinous pigment epithelial detachment and, in PCV, orange-red lesions in the papillomacular bundle can be diagnostic...
March 10, 2017: Klinische Monatsblätter Für Augenheilkunde
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