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BMC Ophthalmology Sep 2022To report an unusual case of central serous chorioretinopathy in a patient with angioid streaks.
BACKGROUND
To report an unusual case of central serous chorioretinopathy in a patient with angioid streaks.
CASE PRESENTATION
The authors describe a case report of a 26-year old male patient presenting acute scotoma and metamorphopsia in OD. He had been diagnosed with angioid streaks complicated with choroidal neovascularization and referred to us for treatment. The patient presented an ETDRS score of 85 letters (20/20) in OD and in OS. The anterior segment examination was unremarkable. Fundoscopy revealed bilateral angioid streaks (AS) and peau d'orange, as well as a small neurosensory retinal detachment in the macula of OD. A multimodal retinal analysis, including fundus photography, infra-red and fundus autofluorescence imaging, spectral-domain optical coherence tomography, optical coherence tomography angiography, fluorescein and indocyanine green angiography was performed. The diagnosis of central serous chorioretinopathy was made in the absence of any identifiable choroidal neovascularization. He was submitted to half-dose photodynamic therapy with verteporfin. One month later, he reported no visual complaints, his vision was 85 letters (20/20) in OD and a complete resolution of the sub-retinal fluid was registered. No signs of choroidal neovascularization were detected on the optical coherence tomography angiography (OCTA). A complete medical workup evaluation was made to exclude systemic diseases usually associated with AS.
CONCLUSIONS
To the authors' knowledge, this is the second reported case of CSC associated with angioid streaks. The focal abnormalities in the Bruch's membrane and the irregular vascular choriocapillary network associated with AS might predispose to CSC.
Topics: Adult; Angioid Streaks; Central Serous Chorioretinopathy; Choroidal Neovascularization; Fluorescein Angiography; Humans; Male; Tomography, Optical Coherence
PubMed: 36064394
DOI: 10.1186/s12886-022-02566-w -
Progress in Retinal and Eye Research May 2024Pseudoxanthoma elasticum (PXE) is an autosomal-recessively inherited multisystem disease. Mutations in the ABCC6-gene are causative, coding for a transmembrane... (Review)
Review
Pseudoxanthoma elasticum (PXE) is an autosomal-recessively inherited multisystem disease. Mutations in the ABCC6-gene are causative, coding for a transmembrane transporter mainly expressed in hepatocytes, which promotes the efflux of adenosine triphosphate (ATP). This results in low levels of plasma inorganic pyrophosphate (PPi), a critical anti-mineralization factor. The clinical phenotype of PXE is characterized by the effects of elastic fiber calcification in the skin, the cardiovascular system, and the eyes. In the eyes, calcification of Bruch's membrane results in clinically visible lesions, including peau d'orange, angioid streaks, and comet tail lesions. Frequently, patients must be treated for secondary macular neovascularization. No effective therapy is available for treating the cause of PXE, but several promising approaches are emerging. Finding appropriate outcome measures remains a significant challenge for clinical trials in this slowly progressive disease. This review article provides an in-depth summary of the current understanding of PXE and its multi-systemic manifestations. The article offers a detailed overview of the ocular manifestations, including their morphological and functional consequences, as well as potential complications. Lastly, previous and future clinical trials of causative treatments for PXE are discussed.
PubMed: 38815804
DOI: 10.1016/j.preteyeres.2024.101274 -
Ophthalmology. Retina May 2023To estimate the incidence and risk factors of visual impairment and complications in eyes with macular neovascularization (MNV) because of angioid streaks (ASs).
OBJECTIVE
To estimate the incidence and risk factors of visual impairment and complications in eyes with macular neovascularization (MNV) because of angioid streaks (ASs).
DESIGN
Longitudinal multicenter retrospective cohort study.
SUBJECTS
Patients with AS-associated MNV treated with anti-VEGF agents and a follow-up of > 3 months.
METHODS
Clinical and MNV characteristics were collected at baseline. Visual acuity (VA) values and the presence of atrophy or fibrosis were collected at each visit.
MAIN OUTCOME MEASURES
Rate of VA change over time and associated factors; the incidence rate of moderate-to-severe visual impairment (MSVI) and blindness and hazard ratio (HR) of candidate risk factors for MSVI; the incidence rate of fibrosis and macular atrophy.
RESULTS
Overall, 84 eyes of 66 patients (39 men, 58%) with a mean (standard deviation) age of 55.7 (13.8) years were followed for a mean (standard deviation) of 67.7 (48.5) months. The median number of anti-VEGF doses per eye was 13. The average rate (95% confidence interval [CI]) of visual loss was +0.04 (0.02-0.06) logarithm of the minimum angle of resolution/year (P < 0.001); the visual loss was faster in nonnaive eyes (P = 0.007) and those with better baseline VA (P < 0.001); it was slower in eyes with pattern dystrophy-like features (P = 0.04). The incidence rates (95% CI) of MSVI and blindness were 10.4 (6.88-15)/100-eye-years and 2.33 (1.12-4.29)/100-eye-years. A higher number of injections (HR [95% CI] = 0.45 [0.19-0.94] for receiving ≥ 13 injections vs. < 13; P = 0.03) was protective against MSVI. The incidence rates (95% CI) of fibrosis and macular atrophy were 24.1 (17.5-32.3)/100-eye-years and 14.3 (10.1-19.6)/100-eye-years.
CONCLUSIONS
Eyes with MNV-related AS had a high rate of visual impairment and propensity to macular fibrosis and atrophy. A higher number of injections yielded better chances of maintaining good VA, suggesting the need for intensive treatment.
FINANCIAL DISCLOSURE(S)
Proprietary or commercial disclosure may be found after the references.
Topics: Male; Humans; Middle Aged; Angioid Streaks; Incidence; Retrospective Studies; Neovascularization, Pathologic; Vision, Low; Macular Degeneration; Blindness; Risk Factors; Fibrosis
PubMed: 36503161
DOI: 10.1016/j.oret.2022.12.002 -
Journal Francais D'ophtalmologie Feb 2021To study the appearance of angioid streaks (AS) in swept source optical coherence tomography angiography. (Observational Study)
Observational Study
PURPOSE
To study the appearance of angioid streaks (AS) in swept source optical coherence tomography angiography.
METHODS
Retrospective observational study of 16 patients (31 eyes) with various stages of AS. All included patients underwent complete ophthalmologic examinations including best-corrected visual acuity (BCVA), slit-lamp examination, indirect ophthalmoscopy and fundus photography. Swept source optical coherence tomography (SS-OCT), OCT angiography (OCT-A) and fluorescein angiography were also performed.
RESULTS
En face OCT detected hyper-reflective points in 65% of cases, with a choriocapillaris (CC) shadow on the corresponding OCT-A. Diffuse CC rarefaction was detected in 94%. In eyes without neovascular complications, streaks were visible as a hyposignal in the outer retina. An irregular vascular network (IVN) was detected in 80% of eyes. It filled the spaces between the AS and corresponded to flat elevation of the retinal pigmentary epithelium. Twenty-four eyes had choroidal neovascularization (CNV). CNV was type 1 in 8%, type 2 in 43%, mixed in 20% and unclassified in 29% because of a large scar. We found multiple sites of CNV in 8% of cases. CNV shape was tangled in 66% and in 2 eyes with newly diagnosed CNV. OCT-A showed a perilesional halo around new CNV. The morphology and configuration of neovascular network follow the IVN and the path of the AS and arises in proximity to sites of BM disruption.
CONCLUSION
OCT-A allows early detection and monitoring of AS and their neovascular complications. It shows CC rarefaction, IVN and a predominantly tangled shape of CNV. However, there are some limitations associated with difficulty in characterizing signs of CNV activity.
Topics: Angioid Streaks; Choroid; Choroidal Neovascularization; Fluorescein Angiography; Humans; Tomography, Optical Coherence
PubMed: 33423815
DOI: 10.1016/j.jfo.2020.04.056 -
Indian Journal of Dermatology,... Apr 2024Telangiectasia macularis multiplex acquisita is a rarely described entity, characterized by multiple asymptomatic erythematous and/or brownish macules with...
Telangiectasia macularis multiplex acquisita is a rarely described entity, characterized by multiple asymptomatic erythematous and/or brownish macules with telangiectasias, preferably on bilateral upper arms and trunk. We reported a 56-year-old Chinese man with telangiectasia macularis multiplex acquisita. Dermoscopic examination demonstrated an erythematous-brownish background with a striking angioid streak pattern (a central arteriole with superficial radiating small vessels attributed to spider-like eruptions) and linear-irregular branching vessels. We suggest dermoscopic features can be used to improve the accuracy of clinical diagnosis and avoid unnecessary skin biopsies.
PubMed: 38841960
DOI: 10.25259/IJDVL_762_2023 -
Cureus Jun 2021Pseudoxanthoma elasticum, or Gronblad-Strandberg syndrome, is an inherited disorder that involves multiple organ systems. The characteristic degeneration and...
Pseudoxanthoma elasticum, or Gronblad-Strandberg syndrome, is an inherited disorder that involves multiple organ systems. The characteristic degeneration and calcification of the elastic fibers caused by this disease were first observed by Ferdinand Jean Darrier in 1896. We report a case of a 27-year-old female who was diagnosed with pseudoxanthoma elasticum based on a skin biopsy prior to her presentation to our ophthalmology outpatient clinic. The past ocular history of the patient was unremarkable for any previous eye complaint or surgery. Her ocular and fundus examination showed pigmented grayish irregular post choroidal crack-like linear dehiscence, forming a network-like pattern, originating at the optic disc and extending radially involving the macular area and the posterior pole in both eyes, representing bilateral angioid streaks. There were no clinical or optical coherent tomographic signs of choroidal neovascularization. Periodic follow up for patients with pseudoxanthoma elasticum is recommended to detect choroidal neovascularization which is a sight-threatening complication. Ophthalmologists should be aware of this association as early recognition and treatment are vital to prevent irreversible visual loss.
PubMed: 34277296
DOI: 10.7759/cureus.15720 -
Sleep & Breathing = Schlaf & Atmung Mar 2021Sleep apnea syndrome (OSAS) has been associated with different ocular manifestations including glaucoma, floppy eye syndrome, punctate keratitis, keratoconus, and optic...
BACKGROUND
Sleep apnea syndrome (OSAS) has been associated with different ocular manifestations including glaucoma, floppy eye syndrome, punctate keratitis, keratoconus, and optic neuropathy. Angioid streaks are mainly associated with pseudoxanthoma elasticum (PXE) although they can appear in other systemic conditions affecting the elastic fibers.
METHODS
This is a prospective, cross-sectional study. A complete ophthalmic examination was performed in 92 patients undergoing overnight polysomnography for suspicion of OSAS. Diagnosis and classification of OSAS were made based on apnea-hypopnea index (AHI). Stereoscopic optic disc photographs were taken in all patients and independently evaluated by two ophthalmologists. Patients with angioid streaks were referred to a dermatologist for axillary skin biopsy in order to rule out pseudoxanthoma elasticum or other skin abnormalities.
RESULTS
Bilateral angioid streaks were observed in three patients who had been diagnosed with severe OSAS (AHI > 30/h). No clinical features characteristic of pseudoxanthoma elasticum or other pathological skin signs were observed. Skin biopsies were normal for all three patients, supporting the diagnosis of idiopathic angioid streaks. One of the patients developed bilateral choroidal neovascularization secondary to the angioid streaks over subsequent years.
CONCLUSIONS
In view of the low prevalence of idiopathic angioid streaks in the general population, the finding of angioid streaks in patients with severe OSAS suggests OSAS as a possible risk factor for its development. The hypothesis of a connective tissue abnormality that could explain an association between both entities deserves further elucidation.
Topics: Adult; Aged; Angioid Streaks; Comorbidity; Cross-Sectional Studies; Female; Humans; Male; Middle Aged; Polysomnography; Risk Factors; Severity of Illness Index; Sleep Apnea, Obstructive
PubMed: 32301031
DOI: 10.1007/s11325-020-02019-y -
JAMA Ophthalmology Oct 2019Acute retinopathy may partly explain variable disease manifestation and vision loss in patients with pseudoxanthoma elasticum (PXE). The diagnosis of this likely...
IMPORTANCE
Acute retinopathy may partly explain variable disease manifestation and vision loss in patients with pseudoxanthoma elasticum (PXE). The diagnosis of this likely autoimmune process may inform patient counseling and treatment approaches.
OBJECTIVE
To characterize acute retinopathy in patients with PXE as a disease manifestation that may be associated with profound visual impairment.
DESIGN, SETTING, AND PARTICIPANTS
This single-center case series was conducted from May 2013 to October 2018. It used the patient database of the Department of Ophthalmology at the University of Bonn, a referral center for PXE in Germany. Patients at this center with genetically confirmed PXE and who met the inclusion criteria were included (n = 9). Patients underwent multimodal retinal imaging, including fundus photography, fundus autofluorescence (AF), optical coherence tomography (OCT), fluorescein angiography (FA), and indocyanine green angiography (ICGA); in select cases, electroretinography as well as antiretinal and anti-retinal pigment epithelium (RPE) antibody testing were also used.
MAIN OUTCOMES AND MEASURES
Clinical presentation and disease course.
RESULTS
Nine patients (8 [89%] female; mean [range] age, 43 [19-55] years) with acute retinopathy were identified in a cohort of 167 consecutive patients with PXE (frequency of 5%). Symptoms ranged from light sensations or metamorphopsia to profound vision loss. Visual acuity was reduced in 6 patients (67%), ranging from a best-corrected visual acuity of 20/30 to perception of hand movements at manifestation. All patients revealed characteristic fundus features with temporary appearance of partly confluent outer retinal whitish dots at the posterior pole, which corresponded to areas of hyperautofluorescence on fundus AF, loss of the ellipsoid band on OCT, and associated scotomata. The FA and late-phase ICGA imaging showed associated hyperfluorescence and hypocyanescence. Electroretinography revealed a variable reduction of amplitudes. Changes were fully reversible within 1 month in 3 of 8 patients with available follow-up data. Of the remaining 5 patients, 3 had a prolonged and likely permanent vision loss (observation period, 1-64 months) mainly owing to central subretinal hyperreflective material originating from angioid streaks. In 4 (67%) of 6 tested, antiretinal and/or anti-RPE antibodies were detected.
CONCLUSIONS AND RELEVANCE
Acute retinopathy in patients with PXE may occur, with symptoms ranging from short-term, reversible alterations to irreversible vision loss; these findings contribute to understanding the variable ocular disease progression in PXE and provide insights into the autoimmune phenomena of the posterior pole.
PubMed: 31393536
DOI: 10.1001/jamaophthalmol.2019.2910 -
Retinal Cases & Brief Reports Jul 2022To investigate the effect of a vaginal delivery (VD) on retinal pathology in patients with pseudoxanthoma elasticum.
BACKGROUND/PURPOSE
To investigate the effect of a vaginal delivery (VD) on retinal pathology in patients with pseudoxanthoma elasticum.
METHODS
Retrospective case series. All 14 consecutive women with pseudoxanthoma elasticum who visited the ophthalmology department during pregnancy and after delivery between 2010 and 2018 were included. Prepartum and postpartum imaging consisted of color imaging, near-infrared imaging, and optical coherence tomography and was assessed on occurrence of (sub)retinal hemorrhages and change in angioid streaks.
RESULTS
Fourteen patients (15 deliveries) were included, of whom 11 patients (79%) had a VD and three patients (21%) a secondary caesarian section. Data of three patients with VD (four deliveries) could not be assessed for (sub)retinal hemorrhage within 10 weeks postpartum. The median age at delivery was 31 years (IQR 29-37). One patient with VD (9%) had a choroidal neovascularization and was treated with anti-VEGF injections before assisted delivery. All patients had angioid streaks in the central 5,500 µ m of the posterior pole of both eyes. After delivery, no patient in the VD or caesarian section group presented with progression of angioid streaks or (sub)retinal hemorrhage.
CONCLUSION
Pushing during the expulsion phase of VD seems safe in pseudoxanthoma elasticum patients without active choroidal neovascularization, and the presence of angioid streaks alone should not be an indication for elective caesarian section.
Topics: Angioid Streaks; Choroidal Neovascularization; Delivery, Obstetric; Female; Fluorescein Angiography; Humans; Intravitreal Injections; Pregnancy; Pseudoxanthoma Elasticum; Retinal Hemorrhage; Retrospective Studies; Tomography, Optical Coherence; Visual Acuity
PubMed: 32205712
DOI: 10.1097/ICB.0000000000000997 -
Graefe's Archive For Clinical and... Dec 2023The aim of this article is to conduct a comprehensive systematic review about the current understandings and differential diagnosis of myopic choroidal... (Review)
Review
PURPOSE
The aim of this article is to conduct a comprehensive systematic review about the current understandings and differential diagnosis of myopic choroidal neovascularization (mCNV) and other several similar diseases, describing their multimodal imaging analysis, prognostic implications, and current types of management.
METHODS
This systematic review was performed based on a search on the PubMed database of relevant papers regarding mCNV and other entities discussed in the paper, according to our current knowledge.
RESULTS
Through the integration of a multimodal imaging approach, especially optical coherence tomography (OCT), along with accurate demographic and clinical assessment, it becomes possible to effectively differentiate mCNV from similar yet heterogeneous entities. These conditions include macular hemorrhage due to new lacquer crack (LC) formation, inflammatory diseases such as punctate inner choroidopathy (PIC)/multifocal choroidits (MFC) and epiphenomenon multiple evanescent white dot syndrome (Epi-MEWDS), neovascular age-related macular degeneration (nAMD), idiopathic CNV (ICNV), dome-shaped macula (DSM) with subretinal fluid, retinal pigment epithelium (RPE) humps, angioid streaks (AS), choroidal rupture (CR), and choroidal osteoma (CO). Each one of these entities will be described and discussed in this article.
CONCLUSION
Myopic choroidal neovascularization is a common retinal condition, especially among young individuals. Accurate diagnosis and differentiation from similar conditions are crucial for effective treatment. Multimodal imaging, particularly OCT, plays a crucial role in precise assessment. Future research should focus on defining biomarkers and distinguishing features to facilitate prompt treatment.
PubMed: 38060000
DOI: 10.1007/s00417-023-06320-w