-
Indian Journal of Ophthalmology Mar 2018A 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...
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. Subsequently, four intravitreal ziv-aflibercept injections were given, and scarring of CNVM was noted on OCT. Thermal laser in the background of angioid streaks has worsened the breaks in the Bruch's membrane leading to worsening of the CNVM.
Topics: Angiogenesis Inhibitors; Angioid Streaks; Choroidal Neovascularization; Fluorescein Angiography; Humans; Intravitreal Injections; Laser Coagulation; Male; Middle Aged; Multimodal Imaging; Receptors, Vascular Endothelial Growth Factor; Recombinant Fusion Proteins; Retinal Hemorrhage; Tomography, Optical Coherence; Vision Disorders; Visual Acuity
PubMed: 29480271
DOI: 10.4103/ijo.IJO_837_17 -
Eye (London, England) Jun 2016PurposeTo report the association and prevalence of reticular pseudodrusen (RPD) in eyes with newly presenting adult onset foveomacular vitelliform dystrophy (AFVD). To...
PurposeTo report the association and prevalence of reticular pseudodrusen (RPD) in eyes with newly presenting adult onset foveomacular vitelliform dystrophy (AFVD). To compare the strength of association with other pathologies resulting from dysfunction of the choroid-Bruch's membrane-retinal pigment epithelium (RPE) complex, including eyes with geographic atrophy (GA) and angioid streaks.MethodsRetrospective single-centre review of all consecutive newly presenting AFVD. Multimodal imaging with spectral domain optical coherence tomography, fundus photographs, red-free/blue light images, and fundus fluorescein angiograms were graded for the presence of RPD. For comparison, all consecutive newly presenting cases of GA and eyes with angioid streaks were studied.ResultsFifteen (15) patients were identified with AFVD (mean age of 77.3 years; 73.3% female). Mean age of patients with AFVD and RPD was 80.5 years (SD 3.7), whereas that of patients with AFVD without RPD was 75.1 years (SD 7.0). This age difference did not reach statistical significance, P=0.1. Six (40%) had identifiable RPD; being a bilateral finding in 100% of patients. No males with AFVD and RPD were identified. A total of 92 eyes presented with GA. Twenty-three (23) of these (25.0%) had RPD. Twelve (12) patients presented with identifiable angioid streaks, with 4 (36.4%) having RPD.ConclusionRPD are a frequent finding in eyes with newly presenting AFVD; not being restricted to AMD, but a finding common among diseases where pathophysiological mechanisms involve damage to Bruch's membrane and the RPE, whether genetic or degenerative. Our study supports the concept that they occur with high but variable frequencies in eyes with various pathologies.
Topics: Aged; Angioid Streaks; Female; Fluorescein Angiography; Geographic Atrophy; Humans; Male; Multimodal Imaging; Photography; Prevalence; Retinal Drusen; Retrospective Studies; Tomography, Optical Coherence; Vitelliform Macular Dystrophy
PubMed: 27034200
DOI: 10.1038/eye.2016.46 -
Journal of Family Medicine and Primary... Dec 2022Increased laxity of the skin can be caused by aging, significant weight loss, or defects in the elastic tissue. A 38-year-old female presented with increased laxity of...
Increased laxity of the skin can be caused by aging, significant weight loss, or defects in the elastic tissue. A 38-year-old female presented with increased laxity of the skin over the neck, thighs, and abdomen for 6 years, associated with headache and blurring of vision for a week. On cutaneous examination, prominent skin folds, laxity, and wrinkles were noted over the neck, abdomen, thighs, and groin, with yellowish papules along the neck creases. Ocular examination revealed features suggestive of angioid streaks. Skin biopsy showed fragmented elastic fibers and intervening calcium deposits on Verhoeff Van Gieson and Von Kossa stains. Based on these findings, a diagnosis of pseudoxanthoma elasticum (PXE) was made. The patient was started on oral and topical sunscreens and eye protection and advised regular follow-up. Diagnosing the condition early based on skin findings can help prevent further multi-system manifestations by taking appropriate preventive measures as this condition is progressive and has no cure.
PubMed: 36994043
DOI: 10.4103/jfmpc.jfmpc_2337_21 -
Middle East African Journal of... 2017The purpose of the study was to evaluate the long-term efficacy and safety of intravitreal bevacizumab (IVB) in the treatment of choroidal neovascularization (CNV)...
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. Detailed clinical examination was followed by fundus fluorescein angiography and optical coherence tomography to confirm CNV. Both primary and recurrent CNVs were treated with monthly injections of IVB till the lesion stabilized. Primary outcome measures were the percentage of patients with stable or improved visual acuity (VA) and with stable or decreased central retinal thickness (CRT) at the last visit. Secondary outcome measure was the incidence of ocular and systemic complications.
RESULTS
Recurrence was observed in 11 eyes (73.33%) over a mean follow-up of 57.33 months (range: 25-100). A mean number of injections administered was 5.60. VA improved or stabilized in 73.33% and deteriorated in 26.67% of eyes at the final visit. Mean CRT improved from 324.40 μm at baseline to 265.53 μm at final visit, which was statistically significant. Complications observed were ocular hypertension in one patient and thromboembolic event in another patient.
CONCLUSIONS
IVB appears to be a safe and effective option to treat CNV and to preserve vision over a prolonged period. It cannot eliminate the risk of recurrent CNV indicating the need for more effective treatments to arrest this visually debilitating condition.
Topics: Angiogenesis Inhibitors; Angioid Streaks; Bevacizumab; Choroidal Neovascularization; Female; Fluorescein Angiography; Follow-Up Studies; Humans; Intravitreal Injections; Male; Middle Aged; Recurrence; Retrospective Studies; Tomography, Optical Coherence; Treatment Outcome; Vascular Endothelial Growth Factor A; Visual Acuity
PubMed: 29279654
DOI: 10.4103/meajo.MEAJO_17_17 -
Acta Ophthalmologica May 2019To identify the clinical characteristics and pathogenic genes among a Chinese family with angioid streaks and to assess a novel splicing mutation at the transcriptional...
PURPOSE
To identify the clinical characteristics and pathogenic genes among a Chinese family with angioid streaks and to assess a novel splicing mutation at the transcriptional and translational levels.
METHODS
Consenting family members were clinically evaluated, and blood samples were collected for targeted exome capture sequencing and/or Sanger sequencing. The two affected siblings were assessed by multimodal fundus imaging. ABCC6 splicing patterns were analysed by RNA identification and quantification using the proband's peripheral blood mononuclear cells. Minigene experiments were performed to verify the university. Plasmids expressing the transcripts were transfected into HEK293 cells to assess protein translation. Bioinformatic analyses were also performed to predict the splicing patterns and the functional consequences of the mutation.
RESULTS
The two siblings were trans-compound heterozygous pseudoxanthoma elasticum (PXE) patients with the same genotype (c.3703C>T and c.1177-2A>G for ABCC6) but different phenotypes. We identified several ABCC6 alternative splicing transcripts that were not previously reported. The novel splicing mutation c.1177-2A>G led to the upregulation of three transcripts, one using a cryptic splice acceptor in the upstream region of the intron, another using a cryptic splice acceptor in the downstream exon, and the third stimulating non-canonical U12-type splicing. All the transcripts were successfully translated in vitro.
CONCLUSION
The genotype-phenotype correlation of PXE is poorly understood. The novel ABCC6 splicing mutation c.1177-2A>G results in multiple splicing patterns. Endogenous U2 to U12 conversion may occur in humans in a disease state. Peripheral blood mononuclear cells can be reliably used to study ABCC6 RNA.
Topics: Blotting, Western; China; DNA; DNA Mutational Analysis; Female; Genotype; Humans; Male; Middle Aged; Multidrug Resistance-Associated Proteins; Mutation; Pedigree; Phenotype; Pseudoxanthoma Elasticum; RNA Splicing; Real-Time Polymerase Chain Reaction; Retinal Pigment Epithelium; Tomography, Optical Coherence
PubMed: 30328268
DOI: 10.1111/aos.13819 -
American Journal of Ophthalmology Case... Jun 2024We report a patient with pseudoxanthoma elasticum (PXE) with angioid streaks near a scleral buckle site.
PURPOSE
We report a patient with pseudoxanthoma elasticum (PXE) with angioid streaks near a scleral buckle site.
OBSERVATIONS
A 46-year-old male with PXE presented for evaluation of blurry vision and was found to have classic PXE findings in both eyes and angioid streaks adjacent to the site of a scleral buckle in his left eye. He underwent multimodal imaging, genetic testing, and intravitreal aflibercept in the right eye.
CONCLUSIONS AND IMPORTANCE
Bruch's membrane is known to be fragile in PXE, and patients are often counseled about the heightened risk of playing contact sports. This report raises the question of whether tension from a scleral buckle in the setting of a calcified and brittle BM may increase the likelihood of angioid streaks near the buckle site. In the setting of retinal detachment, it may be worthwhile to carefully weigh the pros and cons of vitrectomy versus buckle for PXE patients.
PubMed: 38516053
DOI: 10.1016/j.ajoc.2023.101970 -
Eye (London, England) Jun 2023To assess systemic associations of angioid streaks (AS) using a large US healthcare database.
BACKGROUND/OBJECTIVES
To assess systemic associations of angioid streaks (AS) using a large US healthcare database.
SUBJECTS/METHODS
A retrospective cross-sectional study was conducted of patients diagnosed with AS in a large, national US insurer from 2000-2019. Cases were matched 1:5 to controls. The prevalence rates of established associated disease states and other systemic diseases were calculated and compared using logistic regression. Additionally, the rate of anti-VEGF treatment was assessed as a proxy for the incidence of choroidal neovascularization (CNV).
RESULTS
One thousand eight hundred fifty-two cases of AS and 9028 matched controls were included. The rates of association between AS and the well-characterized conditions included: Pseudoxanthoma elasticum (PXE)-228 patients (12.3%), Ehlers-Danlos syndrome-18 patients (1.0%), Paget's disease-6 patients (0.3%), hemoglobinopathies-30 patients (1.6%), and idiopathic-1573 patients (84.9%). There was a statistically higher prevalence of the following less classically associated diseases among patients with AS compared to controls: hereditary spherocytosis (1.7% vs. 0.6%, p < 0.001), connective tissue disease (1.0% vs 0.3%, p < 0.001) and non-exudative age-related macular degeneration (33.9% vs 10.6%, p < 0.001). Among 1442 eligible cases analyzed, 427 (29.6%) received at least 1 anti-VEGF injection with 338 (23.4%) patients having the injection after their AS diagnosis.
CONCLUSIONS
In the largest collection of AS patients to date, the classical teaching of systemic disease associations occur at rates far, far lower than previously reported. The association of AS with other less reported diseases highlights new potential associations and may contribute to the understanding of AS formation.
Topics: Humans; Angioid Streaks; Retrospective Studies; Cross-Sectional Studies; Pseudoxanthoma Elasticum; Choroidal Neovascularization; Delivery of Health Care; Fluorescein Angiography
PubMed: 35915234
DOI: 10.1038/s41433-022-02189-x -
Indian Journal of Ophthalmology Jun 2024Submacular hemorrhage (SMH) is a sight-threatening disorder. Choroidal neovascularization secondary to age-related macular degeneration, polypoidal choroidal...
BACKGROUND
Submacular hemorrhage (SMH) is a sight-threatening disorder. Choroidal neovascularization secondary to age-related macular degeneration, polypoidal choroidal vasculopathy, trauma, angioid streaks, and pathological myopia are a few important causes. The conventional treatment of massive SMH is vitrectomy with manual removal of the clot with extensive retinectomy with/without tissue plasminogen activator (tPA). The usual dose of subretinal tPA is 10-25 µg.
PURPOSE
To describe a new surgical approach in a case of massive SMH with retinal detachment without retinectomy.
SYNOPSIS
In our case of near total hemorrhagic retinal detachment due to subretinal hemorrhage caused by trauma (road traffic accident), the patient presented with a visual acuity of counting fingers. Core vitrectomy was performed and posterior vitreous detachment was induced. The locations for retinotomy to inject and aspirate subretinal blood were selected at the maximum height of retinal elevation near the arcades. Recombinant tPA (10 µg/0.1 ml concentration; 0.3 ml injected in two locations) was injected subretinally with a 23-G soft tip cannula in the superotemporal and inferonasal quadrant causing subretinal bleb formation. Subsequently, the surgeon waited for approximately 20 min on the table for the liquefaction of the clot. The liquefied blood and tPA were drained with a silicone soft tip. Endolaser was performed at the retinotomy site and 1000cs silicone oil was injected. No signs of toxicity such as vitritis, vasculitis, or retinal necrosis were noted.
HIGHLIGHTS
Our unique technique of high-dose intraoperative subretinal tPA (60 µg) is safe and helpful in rapid clot lysis and recovery of visual acuity. The patient gained a visual acuity of 20/80 from counting fingers after 1 month of surgery and 20/60 after silicone oil removal. A high dose of tPA aids in the immediate aspiration of blood from a small retinotomy. A 23-G soft tip was used instead of a 41-G subretinal cannula to inject a large quantity of subretinal tPA.
VIDEO LINK
https://youtu.be/JzZBDUfa3NA.
Topics: Humans; Tissue Plasminogen Activator; Retinal Hemorrhage; Vitrectomy; Fibrinolytic Agents; Visual Acuity; Tomography, Optical Coherence; Male; Fundus Oculi; Fluorescein Angiography; Dose-Response Relationship, Drug
PubMed: 38804808
DOI: 10.4103/IJO.IJO_2295_23 -
Vision (Basel, Switzerland) Mar 2021The aim of this study was to report unusual progression of type 2 macular neovascularization (MNV) associated with age-related macular degeneration (AMD), high myopia or...
The aim of this study was to report unusual progression of type 2 macular neovascularization (MNV) associated with age-related macular degeneration (AMD), high myopia or angioid streaks. Retrospective multicentric observational case series data were used. Eyes that progressed from type 2 MNV secondary to AMD, high myopia or angioid streaks to fibrovascular pigment epithelial detachment (PED) were included. A total of 29 treatment-naive eyes from 29 patients with type 2 MNV secondary to AMD ( = 14), high myopia ( = 10) or angioid streaks ( = 5) that progressed to a fibrovascular PED on Spectral Domain-Optical Coherence Tomography were used. This progression occurred within 3 months after anti-VEGF therapy initiation. Logarithm of minimum angle of resolution (LogMAR) visual acuity improved significantly after anti-VEGF therapy, from 0.55 (SD ± 0.30) (20/63-20/80) at baseline to 0.30 (20/40) at 3 months, and 0.33 (20/40) at the final follow-up (mean follow up: 3.68 years). Mean number of intravitreal injections per year for patients with a total follow-up ≥ 12 months ( = 24) was 4.3 ± 2.1 per year. Progression from type 2 MNV to a fibrovascular PED may occur in patients suffering from AMD, high myopia or angioid streaks. This progression appears early after initiation of anti-VEGF therapy and is associated with a favorable visual and anatomical outcome, at least on a short follow up basis.
PubMed: 33805868
DOI: 10.3390/vision5020016 -
Arquivos Brasileiros de Oftalmologia 2020A 65-year-old female patient was referred to our hospital for evaluation for cataract surgery. Her past medical history included corrective jaw surgeries for facial...
A 65-year-old female patient was referred to our hospital for evaluation for cataract surgery. Her past medical history included corrective jaw surgeries for facial deformities that developed during infancy and persisted through early adulthood. A complete ophthalmological examination revealed bilateral angioid streaks, drusen in both optic disc areas, and a subretinal neovascular membrane in the left macula. Genetic analysis revealed a mutation in the SH3BP2 gene compatible with the diagnosis of cherubism. Clinical and laboratory evaluation revealed no additional systemic disorders. Cherubism is a rare disease characterized by the development of painless fibro-osseous lesions in the jaws and the maxilla in early childhood. Ophthalmologic findings in this disease are primarily related to orbital bone involvement. This is the first report of AS and optic disc drusen in a patient diagnosed with cherubism. Our findings suggest that angioid streaks and optic disk drusen should be included in the differential diagnosis of ophthalmic disorders identified in patients with this genetic abnormality.
Topics: Adaptor Proteins, Signal Transducing; Adult; Aged; Angioid Streaks; Cherubism; Child; Child, Preschool; Diagnosis, Differential; Female; Humans; Optic Disk; Optic Disk Drusen
PubMed: 33470282
DOI: 10.5935/0004-2749.20200097