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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 -
Revue Medicale de Liege Jul 2019Pseudoxanthoma elasticum is a genetic disease caracterised by calcification and fragmentation of elastic fibers affecting primarily the skin, the eyes and the...
Pseudoxanthoma elasticum is a genetic disease caracterised by calcification and fragmentation of elastic fibers affecting primarily the skin, the eyes and the cardiovascular system. We report a case in which the diagnostic was delayed due to an atypical presentation, allowing us to discuss the clinical signs, especially ocular, as well as the diagnosis criteria of this rare pathology. There is no specific treatment to pseudoxanthoma elasticum. It is essential to diagnose it rapidly in order to avoid potentially dramatic systemic outcomes.
Topics: Angioid Streaks; Calcinosis; Choroidal Neovascularization; Humans; Pseudoxanthoma Elasticum; Skin
PubMed: 31373454
DOI: No ID Found -
Eye (London, England) Dec 2019To assess hyperreflective foci (HF) number in angioid streaks (AS) by means of spectral-domain optical coherence tomography (SD-OCT). (Observational Study)
Observational Study
AIMS
To assess hyperreflective foci (HF) number in angioid streaks (AS) by means of spectral-domain optical coherence tomography (SD-OCT).
METHODS
Observational and cross-sectional study. Sixty-two eyes with AS and 62 controls underwent best-corrected visual acuity (BCVA), fundoscopy, and SD-OCT. HF were assessed on the horizontal scan of a six-line radial OCT, in the fovea (1500-μm diameter) and parafovea (500 μm external to the fovea), and sub-classified as retinal or choroidal, small or large. Eyes were distributed in one of four groups, as carrying foveal AS without choroidal neovascularization (CNV) (14 eyes), extra-foveal AS without CNV (14), active CNV (20), and inactive CNV (14). Primary outcome was HF assessment in AS. Secondary outcomes included their correlations with BCVA.
RESULTS
AS-affected eyes had higher HF numbers. Our sub-analysis revealed that patients with active CNV had a larger number of retinal and choroidal HF than all the other groups, whereas retinal and choroidal foci were significantly increased in inactive CNV only with respect to controls. Interestingly, patients with foveal AS showed HF number increase in the choroid and fovea. BCVA deterioration positively correlated with the total HF number found in the fovea and the choroid.
CONCLUSION
HF are significantly increased in patients with AS. Despite being especially evident in active CNV, the increasing number in eyes without CNV might suggest new pathogenetic aspects of the disease.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Angioid Streaks; Choroid; Cross-Sectional Studies; Female; Fluorescein Angiography; Fovea Centralis; Fundus Oculi; Humans; Male; Middle Aged; Prospective Studies; Tomography, Optical Coherence; Visual Acuity; Young Adult
PubMed: 31278381
DOI: 10.1038/s41433-019-0483-2 -
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 -
Eye (London, England) Mar 2019There is paucity of data on the epidemiology of peripapillary choroidal neovascularisartion (PPCNV). Our aim was to determine prevalence of PPCNV in the elderly UK...
Prevalence of peripapillary choroidal neovascular membranes (PPCNV) in an elderly UK population-the Bridlington eye assessment project (BEAP): a cross-sectional study (2002-2006).
PURPOSE
There is paucity of data on the epidemiology of peripapillary choroidal neovascularisartion (PPCNV). Our aim was to determine prevalence of PPCNV in the elderly UK population of Bridlington residents aged ≥65 years.
METHODS
Eyes with PPCNV in the Bridlington eye assessment project (BEAP) database of 3475 participants were analysed. PPCNV outline was drawn, its area measured, and clock-hour involvement of disc circumference recorded. Location and shortest distance from the lesion edge to fovea were recorded. Masked grading for age-related maculopathy (ARM)/reticular pseudodrusen (RPD) within the ETDRS grid was assigned for each eye using a modified Rotterdam scale. Peripapillary retinal pigment epithelial (RPE) changes/drusen were recorded. Visual acuity (VA) and demographic details analysed separately were merged with grading data.
RESULTS
PPCNV were identified in ten subjects, and were bilateral in two (20%), a population prevalence of 0.29%, and 0.06% bilaterality. Gender-specific prevalence were 0.36% and 0.19% for females and males, respectively. Age ranged from 66 to 85 years [mean 76.3 (SD 6.4)]. PPCNV were located nasal to disc in 41.7%, measuring 0.46-7.93 mm [mean 2.81 mm (SD 2.82)]. All PPCNV eyes had peripapillary RPE changes. One subject had no ARM, 1 angioid streaks, and 30% RPD. No direct foveal involvement, or reduced VA attributable to PPCNV was observed.
CONCLUSION
PPCNV were infrequent in this population, more common in females, and often located nasal to the disc, without foveal extension. Peripapillary degenerative changes were universal, and strong association with ARM was observed in eyes with PPCNV. Typically, PPCNV were asymptomatic with VA preservation.
Topics: Age Distribution; Aged; Aged, 80 and over; Choroid; Choroidal Neovascularization; Cross-Sectional Studies; Disease Progression; Female; Health Surveys; Humans; Male; Prevalence; Tomography, Optical Coherence; United Kingdom; Visual Acuity
PubMed: 30315265
DOI: 10.1038/s41433-018-0232-y -
International Medical Case Reports... 2018To report the 12-month outcomes of a patient switching from intravitreal ranibizumab to aflibercept for choroidal neovascularization (CNV) associated with angioid...
PURPOSE
To report the 12-month outcomes of a patient switching from intravitreal ranibizumab to aflibercept for choroidal neovascularization (CNV) associated with angioid streaks (AS).
RESULTS
A 42-year-old Caucasian female with CNV associated with AS underwent intensive treatment with ranibizumab without significant functional or anatomic change. Treatment was then switched to aflibercept and the patient received the proposed age-related macular degeneration treatment regimen. After 3 loading doses of aflibercept, best-corrected visual acuity (BCVA) improved from 3/10 to 6/10, while optical coherence tomography (OCT) demonstrated resolution of the subretinal fluid with a reduction of the intraretinal fluid. After 12 months and 7 intravitreal injections of aflibercept, BCVA returned to 3/10, while OCT had demonstrated further morphologic improvement.
CONCLUSION
Our case shows that aflibercept may be an alternative treatment for advanced cases of CNV associated with AS that respond insufficiently to ranibizumab injections. Prospective studies are required to further evaluate the effect of aflibercept and to propose a standardized treatment protocol for this entity.
PubMed: 30271222
DOI: 10.2147/IMCRJ.S166473 -
Eye (London, England) Mar 2019To characterize the features of choroidal neovascularization (CNV) secondary to angioid streaks (AS) with optical coherence tomography angiography (OCT-A) and to assess...
PURPOSE
To characterize the features of choroidal neovascularization (CNV) secondary to angioid streaks (AS) with optical coherence tomography angiography (OCT-A) and to assess its sensitivity in CNV detection in this particular context.
METHODS
Consecutive patients, both with treatment-naïve and recurrent CNV associated with angioid streaks were prospectively analyzed. All patients underwent macular imaging by fluorescein angiography (FA), indocyanine green angiography (ICGA), spectral-domain (SD)-OCT, and OCT-A (AngioVue, Optovue, Optovue Inc., Freemont, CA, USA). OCT-A detection rate of CNV associated to AS was evaluated by two independent observers. We studied the association between OCT-A feature and either exudative or active status using Fisher exact test.
RESULTS
A total of 32 eyes of 18 consecutive patients were included in the analysis. OCT-A was able to detect CNV associated with angioid streaks in 87.5 % (28/32) eyes. OCT-A phenotypes of CNV were classified into interlacing pattern in 9 eyes, pruned vascular tree pattern in 7 eyes, and combined pattern in 12 eyes (Interuser agreement: 0.871 ± 0.071). CNV were not detectable in 4/32 eyes. There was a statistically significant association between the presence in OCT-A of densely ramified networks with both previous treatment status in the last 6 months (p < 0.001) and with exudative signs on SD-OCT (p = 0.014).
CONCLUSION
OCT-A appears as a sensitive tool for detection of CNV secondary to AS. The interlacing pattern was significantly associated with active and exudative features.
Topics: Adult; Aged; Angioid Streaks; Choroid; Choroidal Neovascularization; Coloring Agents; Female; Fluorescein Angiography; Humans; Indocyanine Green; Male; Middle Aged; Prospective Studies; Sensitivity and Specificity; Tomography, Optical Coherence
PubMed: 30250237
DOI: 10.1038/s41433-018-0213-1 -
Scientific Reports May 2018The aim of the current study is to investigate corneal biomechanical properties in detail using Ocular Response Analyzer (ORA) and Corvis ST (CST) tonometry and to...
The aim of the current study is to investigate corneal biomechanical properties in detail using Ocular Response Analyzer (ORA) and Corvis ST (CST) tonometry and to analyze the association between corneal biomechanical properties and the frequency of intravitreal anti-vascular endothelial growth factor (VEGF) injections (F) in AS eyes with choroidal neovascularization (CNV). Twenty-eight eyes of 15 patients with AS were enrolled. Mean age of AS patients was 67.9 ± 9.8 years. ORA and CST measurements were carried out, in addition to comprehensive ophthalmic examinations. LogMAR visual acuity (VA) and ΔVA (the change of VA from baseline to the final visit) were calculated in each eye. Also, the relationships between F, and the variables of initial age at the observation period, axial length, and corneal biomechanical properties were investigated in eyes with AS using linear mixed model with model selection using AICc. In 28 AS eyes, 16 eyes underwent intravitreal anti-VEGF injections during follow-up period. Lower corneal hysteresis (CH), higher corneal resistant factor (CRF) and higher CST measured the DA ratio were associated with the increase of F in AS eyes (p = 0.01, p = 0.002, p = 0.027, respectively), suggesting the usefulness for monitoring of corneal biomechanical properties.
Topics: Aged; Angioid Streaks; Biomechanical Phenomena; Cornea; Female; Follow-Up Studies; Humans; Male; Mechanical Phenomena; Prognosis
PubMed: 29802262
DOI: 10.1038/s41598-018-26430-4 -
American Journal of Ophthalmology Case... Jun 2018To present the multimodal imaging characteristics including optical coherence tomography angiography (OCTA) as well as indocyanine green angiography (ICGA) of quiescent...
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. At the end of the one year of follow-up, the patient was asymptomatic and the type 1 NV was still quiescent.
CONCLUSIONS AND IMPORTANCE
In comparison to ICGA, OCTA seems to be an easily repeatable non-invasive imaging tool which enables us early detection and monitoring of type 1 NV lesions even in asymptomatic patients with AS.
PubMed: 29687087
DOI: 10.1016/j.ajoc.2018.02.014 -
GMS Ophthalmology Cases 2018This rare case shows the presence of both angioid streaks (AS) and central serous chorioretinopathy (CSC) in the same eye. A 41-year-old Caucasian male who also has a...
This rare case shows the presence of both angioid streaks (AS) and central serous chorioretinopathy (CSC) in the same eye. 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. 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. Unfortunately, there was still some deterioration of vision with poor response. There is no known correlation between the two disorders and their presence in one eye has not been reported to our knowledge.
PubMed: 29623251
DOI: 10.3205/oc000083