-
Eye (London, England) May 2022To inspect the inter-reader agreement of different diagnostic modalities in identifying choroidal neovascularization (CNV) activity secondary to angioid streaks (AS) and...
OBJECTIVES
To inspect the inter-reader agreement of different diagnostic modalities in identifying choroidal neovascularization (CNV) activity secondary to angioid streaks (AS) and to analyze the prevalence of subretinal hyper-reflective material (SHRM) in active CNV.
METHODS
Retrospective study of patients with AS with active CNV; optical coherence tomography (OCT), OCT angiography (OCTA), fundus fluorescein angiography (FFA), and indocyanine green angiography (ICGA) from each patient were collected. Agreement between two readers using different diagnostic modalities is presented as free-marginal kappa (k) and 95% confidence interval (CI).
RESULTS
This study included 19 eyes of 12 patients with active CNV (5 naive and 14 previously treated). Agreement among readers on CNV activity was excellent for OCT (k =0.88; 95% CI 0.71-1.00), good for FFA (k = 0.70; 95% CI 0.46-0.94) and ICGA (k = 0.58; 95% CI 0.31-0.84), and poor using OCTA (k = 0.39; 95% CI 0.11-0.68). SHRM was the most common OCT finding associated with active CNV (100%); fuzzy borders were present in 53% of SHRM cases at baseline.
CONCLUSIONS
Identification of CNV activity in AS is challenging; OCT was the best modality to inspect active CNV. The identification of SHRM contributed to recognizing active CNV. Further studies are needed to assess the role of SHRM in anticipating prognosis and guiding treatment of CNV secondary to AS.
Topics: Angioid Streaks; Choroidal Neovascularization; Coloring Agents; Fluorescein Angiography; Humans; Indocyanine Green; Retrospective Studies; Tomography, Optical Coherence
PubMed: 33972707
DOI: 10.1038/s41433-021-01555-5 -
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 -
The British Journal of Ophthalmology May 2020To report the visual and anatomical outcomes in eyes with peripapillary choroidal neovascularisation (CNV) through 12 months.
PURPOSE
To report the visual and anatomical outcomes in eyes with peripapillary choroidal neovascularisation (CNV) through 12 months.
METHODS
This was a multicentre, retrospective, interventional case series which included treatment-naïve cases of peripapillary choroidal neovascular membrane (CNVM) with a minimum follow-up of 12 months. Multimodal imaging which comprised optical coherence tomography (OCT), fluorescein angiography and/or indocyanine green angiography was performed at baseline and follow-up visits. OCT parameters included central macular thickness (CMT), subfoveal choroidal thickness (SFCT) and retinal and choroidal thickness at site of CNV. Patients were treated with anti-vascular endothelial growth factors (VEGF) on protocol, photodynamic therapy, laser photocoagulation or a combination. Main outcome measures were change in best corrected visual acuity (BCVA) and OCT parameters.
RESULTS
A total of 77 eyes (74 patients; mean age: 61.9±21.8 years) with a mean disease duration of 9.2±14.1 months were included. BCVA improved significantly from 0.55±0.54 logMAR (20/70) at baseline to 0.29±0.39 logMAR (20/40) at 12 months (p<0.001) with a mean of 4.9±2.9 anti-VEGF injections. CMT, SFCT and retinal thickness at site of CNVM reduced significantly (p<0.001, <0.001 and 0.02, respectively) through 12 months. The most common disease aetiologies were neovascular age-related macular degeneration, and idiopathic, inflammatory and angioid streaks. Age (p=0.04) and baseline BCVA (p<0.001) were significant predictors of change in BCVA at 12 months.
CONCLUSION
Peripapillary CNVM, though uncommon, is associated with diverse aetiologies. Anti-VEGF agents lead to significant visual acuity and anatomical improvement in these eyes over long term irrespective of the aetiology.
Topics: Angiogenesis Inhibitors; Bevacizumab; Choroid; Choroidal Neovascularization; Female; Fluorescein Angiography; Follow-Up Studies; Fundus Oculi; Humans; Intravitreal Injections; Male; Middle Aged; Optic Disk; Retrospective Studies; Time Factors; Tomography, Optical Coherence; Treatment Outcome; Vascular Endothelial Growth Factor A; Visual Acuity
PubMed: 31401554
DOI: 10.1136/bjophthalmol-2019-314542 -
Optometry and Vision Science : Official... Feb 2021Alagille syndrome is rare genetic disease, which affects liver and heart function. Cases are frequently diagnosed late, and a complete ocular examination aids in the...
SIGNIFICANCE
Alagille syndrome is rare genetic disease, which affects liver and heart function. Cases are frequently diagnosed late, and a complete ocular examination aids in the diagnosis. Although ophthalmic manifestations are usually benign, occasionally, sight-threatening complications occur.
PURPOSE
The case presented herein highlights a rare condition, which usually can be diagnosed by the ophthalmological findings. However, in this particular case report, the complication of angioid streaks and choroidal neovascularization is reported for the first time in Alagille syndrome.
CASE REPORT
Α 32-year-old woman diagnosed with Alagille syndrome presented with diminution of vision in the left eye. The cause was choroidal neovascularization related to angioid streaks. She was treated with intravitreal injections of ranibizumab but developed an extensive macular scar. A few years later, she developed the same complication in the right eye and was treated similarly.
CONCLUSIONS
Alagille syndrome has many ophthalmic manifestations, most of them benign with minimal threat to vision. Herein for the first time, we present a case of Alagille syndrome with angioid streak-related choroidal neovascularization, which resulted in severe vision loss.
Topics: Adult; Alagille Syndrome; Angiogenesis Inhibitors; Angioid Streaks; Choroidal Neovascularization; Female; Fluorescein Angiography; Humans; Intravitreal Injections; Ranibizumab; Tomography, Optical Coherence; Vascular Endothelial Growth Factor A
PubMed: 33617169
DOI: 10.1097/OPX.0000000000001641 -
The British Journal of Ophthalmology Aug 2020Biallelic mutations cause pseudoxanthoma elasticum, a systemic disease characterised by calcification of elastic tissue and a specific retinal phenotype. In this study,...
AIM
Biallelic mutations cause pseudoxanthoma elasticum, a systemic disease characterised by calcification of elastic tissue and a specific retinal phenotype. In this study, we investigated if monoallelic mutations are also associated with retinal alterations.
METHODS
In this prospective, cross-sectional, monocentre case-control study, carriers of monoallelic mutations were investigated and compared with age-matched controls. The retinal phenotype was characterised using fundus photography, fundus autofluorescence, confocal near-infrared reflectance imaging, spectral domain optical coherence tomography and in selected cases late-phase indocyanine green angiography.
RESULTS
Thirty-eight subjects carrying monoallelic mutations (mean age 70.2 years, range 50-90, 26 female) were examined and compared with 77 age-matched controls (mean age 69.9 years, range 50-93, 43 female). Retinal alterations were more frequently found in carriers of monoallelic mutations compared with controls (50% vs 33.8%, p=0.107) with increasing prevalence at older age. Typical findings were peripapillary atrophy (37% vs 23%, p=0.184), pattern dystrophy-like changes (24% vs 12%, p=0.109), reticular pseudodrusen (21% vs 5%, p=0.019), small angioid streaks (8% vs 1%, p=0.105), choroidal neovascularisations and atrophic lesions (both 8% vs 0%, p=0.034). Late-phase indocyanine green angiography showed a reduced cyanescence centred to the posterior pole in 11 of 14 examined subjects with monoallelic mutations.
CONCLUSION
The findings of this study indicate a possible ocular ABCC6 haploinsufficiency phenotype. Due to its late-onset and phenotypic similarities, misinterpretation as age-related macular degeneration is possible.
Topics: Aged; Aged, 80 and over; Alleles; Case-Control Studies; Coloring Agents; Cross-Sectional Studies; Female; Fluorescein Angiography; Haploinsufficiency; Heterozygote; Humans; Indocyanine Green; Male; Microscopy, Confocal; Middle Aged; Multidrug Resistance-Associated Proteins; Mutation; Optical Imaging; Photography; Prospective Studies; Pseudoxanthoma Elasticum; Retinal Diseases; Risk Assessment; Tomography, Optical Coherence
PubMed: 30923132
DOI: 10.1136/bjophthalmol-2018-313448 -
European Journal of Ophthalmology Aug 2016To assess the etiology, clinical features, and outcome of choroidal neovascularization (CNV) in children.
PURPOSE
To assess the etiology, clinical features, and outcome of choroidal neovascularization (CNV) in children.
METHODS
We retrospectively assessed 10 eyes of 8 patients younger than 18 years diagnosed with CNV. The main clinical parameters included predisposing ocular pathologies, best-corrected visual acuity before and after treatment, characteristics of CNV, and treatment modalities.
RESULTS
Two boys and 6 girls with CNV and a mean age of 13.9 years (SD 1.9, range 11-16 years) were included. Two patients developed bilateral CNV within the follow-up time. The development of CNV was secondary to the following pathologies: choroidal osteoma (n = 3), pathologic myopia (n = 1), punctate inner choroidopathy (n = 1), hereditary macular dystrophy (n = 2), and angioid streaks (n = 1). Idiopathic CNV was diagnosed in 2 children without any obvious associated ocular pathology. In 9 eyes, CNV was treated by intravitreal anti-vascular endothelial growth factor (VEGF) administration (n = 6), photodynamic therapy (n = 1), or combination therapy (n = 3). One eye remained untreated because of advanced disease.
CONCLUSIONS
Pediatric CNV is a rare but sight-threatening retinal disease. So far, no standard treatment has been validated. Since the establishment of intravitreal anti-VEGF therapy, laser coagulation and photodynamic therapy have lost their significance as therapy for CNV.
Topics: Adolescent; Aged; Angiogenesis Inhibitors; Angioid Streaks; Child; Choroidal Neovascularization; Choroiditis; Female; Fluorescein Angiography; Humans; Intravitreal Injections; Laser Coagulation; Macular Degeneration; Male; Middle Aged; Multifocal Choroiditis; Photochemotherapy; Retrospective Studies; Treatment Outcome; Vascular Endothelial Growth Factor A; Visual Acuity
PubMed: 27375068
DOI: 10.5301/ejo.5000820 -
Postgraduate Medical Journal Apr 2019
Topics: Adult; Angiogenesis Inhibitors; Angioid Streaks; Choroidal Neovascularization; Female; Fluorescein Angiography; Humans; Intravitreal Injections; Pseudoxanthoma Elasticum; Ranibizumab; Tomography, Optical Coherence; Vision Disorders
PubMed: 30580324
DOI: 10.1136/postgradmedj-2018-136088 -
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 -
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