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Journal of Ophthalmic & Vision Research 2020To present a case of gigantic idiopathic angioid streaks.
PURPOSE
To present a case of gigantic idiopathic angioid streaks.
CASE REPORT
A young male presented with macular choroidal neovascular membrane (CNVM) and peripheral retinal hemorrhages secondary to angioid streaks. Swept source optical coherence tomography (SSOCT) and ultrawide field imaging were performed. The latter revealed extension of the angioid streaks up to the equator in both eyes. SSOCT showed breaks in the retinal pigment epithelium-Bruch's membrane complex in the area of peripheral retinal hemorrhages. The patient was extensively worked up for systemic associations, and the only significant finding was a long history of steroid abuse in the past.
CONCLUSION
Advanced imaging techniques helped to diagnose angioid streaks in this patient. The possible role of steroid abuse in accentuating the presentation of angioid streaks may be explored further.
PubMed: 32308959
DOI: 10.18502/jovr.v15i2.6742 -
Romanian Journal of Ophthalmology 2022To present a case of secondary type 2 choroidal neovascularization (CNV) and exudative maculopathy in a patient with Grönblad-Strandberg syndrome. A 37-year-old male...
To present a case of secondary type 2 choroidal neovascularization (CNV) and exudative maculopathy in a patient with Grönblad-Strandberg syndrome. A 37-year-old male was admitted with bilateral progressive painless visual acuity loss and metamorphopsias. A thorough ophthalmologic and clinical examination was performed. Best-corrected visual acuity (BCVA) on presentation was 20/ 200 OD (Oculus Dexter) and 20/ 60 OS (Oculus Sinister). Fundus examination revealed angioid streaks and subretinal hemorrhages on OU (Oculus Uterque), macular fibrosis on OD and "peau d'orange" pigmentary mottling on OS. Leakage areas on fundus fluorescein angiography (FFA) revealed active CNV on OU, which was confirmed by Optical Coherence Tomography (OCT). The presence of typical "plucked chicken" skin lesions in the latero-cervical area and their biopsy confirmed the diagnosis of Pseudoxanthoma elasticum (PXE). Consequently, the diagnosis of Grönblad-Strandberg syndrome was established. Every new diagnosis of angioid streaks entails not only a thorough ophthalmologic evaluation for secondary sight-threatening complications, but also a multidisciplinary evaluation due to the possibility of severe underlying systemic disease. BM = Bruch's membrane, RPE = Retinal Pigmented Epithelium, PXE = Pseudoxanthoma Elasticum, ABCC6 = ATP binding cassette subtype C number 6, CNV = Choroidal Neovascularization, BCVA = Best-Corrected Visual Acuity, OD = Oculus Dexter, OS = Oculus Sinister, OU = Oculus Uterque, FFA = Fundus Fluorescein Angiography, OCT = Optical Coherence Tomography, IPO = Intraocular Pressure, ECG = Electrocardiogram, anti-VEGF = anti-vascular endothelial growth factor.
Topics: Abnormalities, Multiple; Angioid Streaks; Choroidal Neovascularization; Darier Disease; Eyebrows; Fluorescein Angiography; Humans; Male; Pseudoxanthoma Elasticum; Tomography, Optical Coherence
PubMed: 35935090
DOI: 10.22336/rjo.2022.31 -
Survey of Ophthalmology 2016Patients with beta (β)-thalassemia (β-TM: β-thalassemia major, β-TI: β-thalassemia intermedia) have a variety of complications that may affect all organs, including... (Review)
Review
Patients with beta (β)-thalassemia (β-TM: β-thalassemia major, β-TI: β-thalassemia intermedia) have a variety of complications that may affect all organs, including the eye. Ocular abnormalities include retinal pigment epithelial degeneration, angioid streaks, venous tortuosity, night blindness, visual field defects, decreased visual acuity, color vision abnormalities, and acute visual loss. Patients with β-thalassemia major are transfusion dependent and require iron chelation therapy to survive. Retinal degeneration may result from either retinal iron accumulation from transfusion-induced iron overload or retinal toxicity induced by iron chelation therapy. Some who were never treated with iron chelation therapy exhibited retinopathy, and others receiving iron chelation therapy had chelator-induced retinopathy. We will focus on retinal abnormalities present in individuals with β-thalassemia major viewed in light of new findings on the mechanisms and manifestations of retinal iron toxicity.
Topics: Deferiprone; Deferoxamine; Humans; Iron Chelating Agents; Iron Overload; Pyridones; Retinal Diseases; Transfusion Reaction; beta-Thalassemia
PubMed: 26325202
DOI: 10.1016/j.survophthal.2015.08.005 -
Retina (Philadelphia, Pa.) Jan 2019To stratify the literature on angioid streaks, from pathophysiology to treatment. (Review)
Review
PURPOSE
To stratify the literature on angioid streaks, from pathophysiology to treatment.
METHODS
Review of the current literature.
RESULTS
Angioid streaks are crack-like dehiscences of Bruch membrane, which may coexist with systemic diseases, such as pseudoxanthoma elasticum, Paget disease, Ehlers-Danlos syndrome, hemoglobinopathies, or other diseases of the collagen. Various diagnostic methods, including infrared and red-free retinography, autofluorescence, optical coherence tomography, fluorescein angiography, and indocyanine green angiography, are useful to diagnose, evaluate, and monitor angioid streaks. Choroidal neovascularization consists of a major complication of angioid streaks leading to visual impairment. Therefore, observation could not be a treatment option. Photodynamic treatment or anti-vascular endothelial growth factor agents have been used for the treatment of angioid streaks, offering promising but short-term results. Currently, the available treatment may limit the disease, but not permanently inactivate it.
CONCLUSION
This review discusses the epidemiology, pathophysiology, diagnosis, and treatment of angioid streaks, presenting the existing literature on this topic.
Topics: Angiogenesis Inhibitors; Angioid Streaks; Fluorescein Angiography; Fundus Oculi; Global Health; Humans; Incidence; Photochemotherapy; Retina; Tomography, Optical Coherence; Visual Acuity
PubMed: 30260918
DOI: 10.1097/IAE.0000000000002327 -
Developments in Ophthalmology 2016Choroidal neovascularization (CNV) is a significant cause of vision loss in all age groups. The most common cause of CNV is age-related macular degeneration (AMD).... (Review)
Review
Choroidal neovascularization (CNV) is a significant cause of vision loss in all age groups. The most common cause of CNV is age-related macular degeneration (AMD). However, CNV can also occur as a secondary manifestation of various inherited and acquired conditions, including pathologic myopia, presumed ocular histoplasmosis syndrome, angioid streaks, and various hereditary, traumatic or inflammatory disorders. Fluorescein angiography and optical coherence tomography are useful tools in the diagnosis and evaluation of CNV. Treatment options are similar to those for CNV secondary to AMD, specifically anti-angiogenic therapy, but including laser photocoagulation, photodynamic therapy and surgery. Anti-angiogenic therapy has been associated with better visual outcomes than other treatment modalities and is now advocated as the first-line therapy for CNV secondary to myopia, infection and inflammation.
Topics: Angiogenesis Inhibitors; Choroidal Neovascularization; Eye Infections; Fluorescein Angiography; Humans; Inflammation; Laser Coagulation; Myopia, Degenerative; Photochemotherapy; Tomography, Optical Coherence
PubMed: 26501802
DOI: 10.1159/000431194 -
Graefe's Archive For Clinical and... Apr 2021To characterize morphological changes in the retina and to report the frequency and natural history of non-exudative macular neovascularization (MNV) in a cohort of...
PURPOSE
To characterize morphological changes in the retina and to report the frequency and natural history of non-exudative macular neovascularization (MNV) in a cohort of pseudoxanthoma elasticum (PXE).
METHODS
A single-center, retrospective study was complemented by a cross-sectional examination. Consecutive patients with a definitive genetic and/or clinical diagnosis of PXE, visiting our department between January 2019 and December 2019, and with a minimum follow-up of 6 months were recruited. Baseline data were retrieved from each patient file. Additionally, a cross-sectional examination comprising color fundus photography, spectral-domain optical coherence tomography (SD-OCT), OCT-Angiography (OCT-A), and fundus autofluorescence was performed. The presence of typical PXE-related findings, as well as related complications, was multimodally evaluated. The prevalence and natural history of non-exudative MNV were assessed. All images were graded by two independent graders.
RESULTS
Forty-eight eyes from 24 patients (mean age 59.11 ± 18.14) with a median follow-up of 53.00 months were included. Angioid streaks and peau d'orange were observed in 46/48 and 42/48 eyes, while MNV was present in 75.00% of the cohort. The prevalence of non-exudative MNV was 33.33% (6/18). In the 2 eyes that developed exudation, time to conversion was 9.50 ± 4.95 months. No significant difference in visual acuity was found between eyes with non-exudative MNV and those with no signs of MNV.
CONCLUSION
We have shown that non-exudative MNV is a frequent finding in PXE but the majority of eyes did not develop exudation during follow-up. Our results are a clear evidence of the utility of OCT-A in the management of PXE.
Topics: Choroidal Neovascularization; Cross-Sectional Studies; Fluorescein Angiography; Humans; Middle Aged; Pseudoxanthoma Elasticum; Retrospective Studies; Tomography, Optical Coherence
PubMed: 33074374
DOI: 10.1007/s00417-020-04979-z -
Current Pharmaceutical Design 2018Choroidal neovascularization (CNV) in adults is most commonly associated with neovascular age-related macular degeneration (AMD) and pathologic myopia. Though less... (Review)
Review
BACKGROUND
Choroidal neovascularization (CNV) in adults is most commonly associated with neovascular age-related macular degeneration (AMD) and pathologic myopia. Though less common, CNV can also develop from other conditions such as uveitis, central serous chorioretinopathy, angioid streaks, intraocular tumors, hereditary chorioretinal dystrophies, or can be idiopathic in origin. If left untreated, CNV may cause visual loss because of exudation of intraretinal or subretinal fluid, retinal or subretinal hemorrhage, or fibrosis involving the macula. It is well known that one of the main drivers of angiogenesis in CNV development is vascular endothelial growth factor (VEGF) and therefore inhibitors of VEGF might be an effective treatment for CNV.
METHODS
The goal of this review is to provide an overview and summary in the use of pharmacotherapy especially anti-VEGF therapy, in the treatment of CNV due to uncommon causes.
RESULTS
Results from uncontrolled case series and controlled clinical trials have reported good efficacy and safety in using anti-VEGF agents including bevacizumab, ranibizumab, aflibercept and ziv-aflibercept in the treatment of CNV due to uncommon causes. Anti-VEGF has also been used in combination with verteporfin PDT and anti-inflammatory agents for treating CNV of various causes.
CONCLUSION
Pharmacotherapy with anti-VEGF agents is an effective treatment option for CNV due to uncommon etiologies.
Topics: Angiogenesis Inhibitors; Animals; Choroidal Neovascularization; Humans; Vascular Endothelial Growth Factors
PubMed: 30727875
DOI: 10.2174/1381612825666190206105943 -
Atherosclerosis May 2021Pseudoxanthoma elasticum (PXE) is caused by variants in the ABCC6 gene. It results in calcification in the skin, peripheral arteries and the eyes, but has considerable...
BACKGROUND AND AIMS
Pseudoxanthoma elasticum (PXE) is caused by variants in the ABCC6 gene. It results in calcification in the skin, peripheral arteries and the eyes, but has considerable phenotypic variability. We investigated the association between the ABCC6 genotype and calcification and clinical phenotypes in these different organs.
METHODS
ABCC6 sequencing was performed in 289 PXE patients. Genotypes were grouped as two truncating, mixed, or two non-truncating variants. Arterial calcification mass was quantified on whole body, low dose CT scans; and peripheral arterial disease was measured with the ankle brachial index after treadmill test. The presence of pseudoxanthoma in the skin was systematically scored. Ophthalmological phenotypes were the length of angioid streaks as a measure of Bruchs membrane calcification, the presence of choroidal neovascularizations, severity of macular atrophy and visual acuity. Regression models were built to test the age and sex adjusted genotype-phenotype association.
RESULTS
158 patients (median age 51 years) had two truncating variants, 96 (median age 54 years) a mixed genotype, 18 (median age 47 years) had two non-truncating variants. The mixed genotype was associated with lower peripheral (β: 0.39, 95%CI:-0.62;-0.17) and total (β: 0.28, 95%CI:-0.47;-0.10) arterial calcification mass scores, and lower prevalence of choroidal neovascularizations (OR: 0.41 95%CI:0.20; 0.83) compared to two truncating variants. No association with pseudoxanthomas was found.
CONCLUSIONS
PXE patients with a mixed genotype have less severe arterial and ophthalmological phenotypes than patients with two truncating variants in the ABCC6 gene. Research into environmental and genetic modifiers might provide further insights into the unexplained phenotypic variability.
Topics: Genetic Association Studies; Genotype; Humans; Middle Aged; Peripheral Arterial Disease; Phenotype; Pseudoxanthoma Elasticum
PubMed: 33812167
DOI: 10.1016/j.atherosclerosis.2021.03.012 -
BMC Ophthalmology Jul 2016Beta-thalassemia is a severe genetic blood disorder caused by a mutation in the gene encoding for the beta chains of hemoglobin. Individuals with beta-thalassemia major... (Review)
Review
BACKGROUND
Beta-thalassemia is a severe genetic blood disorder caused by a mutation in the gene encoding for the beta chains of hemoglobin. Individuals with beta-thalassemia major require regular lifelong Red Blood Cell transfusions to survive. Ocular involvement is quite common and may have serious implications.
METHODS
Extensive review of observational studies on beta-thalassemia, to determine the prevalence and spectrum of ocular abnormalities, by clinical examination and multimodal imaging, and to investigate risk factors for their development.
RESULTS
Frequency of ocular involvement differs among various studies (41.3-85 %, three studies). Ocular findings in beta-thalassemia may correlate to the disease itself, iron overload or the chelating agents used. Beta-thalassemia ocular manifestations include ocular surface disease, as demonstrated by tear function parameters (two studies). Lens opacities are present in 9.3-44 % (five studies). Lenticular opacities and RPE degeneration correlated positively with use of desferrioxamine and deferriprone respectively (two studies). Ocular fundus abnormalities characteristic of pseudoxanthoma elasticum (PXE), including peau d'orange, angioid streaks, pattern dystrophy-like changes, and optic disc drusen are a consistent finding in seven studies. Patients with PXE-like fundus changes were older than patients without these fundus changes (two studies). Age (two studies) and splenectomy (one study) had the strongest association with presence of PXE-like fundus changes. Increased retinal vascular tortuosity independently of the PXE-like fundus changes was found in 11-17.9 % (three studies), which was associated with aspartate amino transferase, hemoglobin and ferritin levels (two studies). Fundus autofluorescence and electrophysiological testing (ERG and EOG) may indicate initial stages or more widespread injury than is suggested by fundus examination (two studies).
CONCLUSIONS
Beta-thalassemia may present with various signs, both structural and functional. Pseudoxanthoma elasticum like fundus changes are a frequent finding in patients with b-thalassemia. These changes increase with duration or severity of the disease. Retinal vascular tortuosity may be an additional disease manifestation related to the severity and duration of anemia and independent of the PXE-like syndrome. Patients with long-standing disease need regular ophthalmic checkups because they are at risk of developing PXE-like fundus changes and potentially of subsequent choroidal neovascularization.
Topics: Chelating Agents; Humans; Iron Overload; Observational Studies as Topic; Retinal Diseases; Vision Disorders; beta-Thalassemia
PubMed: 27390837
DOI: 10.1186/s12886-016-0285-2 -
F1000Research 2020Pseudoxanthoma elasticum (PXE) is a rare inherited disorder, characterised by a progressive mineralization and fragmentation of elastic fibres of the skin, retina and...
Pseudoxanthoma elasticum (PXE) is a rare inherited disorder, characterised by a progressive mineralization and fragmentation of elastic fibres of the skin, retina and cardiovascular system. At an initial stage, the skin usually exhibits distinctive lesions and subsequently extra-dermal manifestations. The diagnosis is based on clinical manifestations, histological analysis of the lesions and genetic analysis. This is a case report of a 12-year-old child complaining of painless, mildly itchy yellow papules in the cervical region with 1 year of evolution. PXE is currently an incurable disease and has a favourable prognosis when cardiovascular and retinal complications are prevented and monitored.
Topics: Biopsy; Cardiovascular System; Child; Female; Humans; Pseudoxanthoma Elasticum; Retina; Skin; Ultrasonography
PubMed: 32742638
DOI: 10.12688/f1000research.21431.1