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Oman Journal of Ophthalmology 2018Pseudoxanthoma elasticum is a hereditary disorder that affects primarily the elastic tissues in the skin, the eyes and the blood vessels.
Pseudoxanthoma elasticum is a hereditary disorder that affects primarily the elastic tissues in the skin, the eyes and the blood vessels.
PubMed: 29563708
DOI: 10.4103/ojo.OJO_123_2016 -
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 -
Indian Journal of Ophthalmology Feb 2018
Topics: Angioid Streaks; Diagnosis, Differential; Humans; Pseudoxanthoma Elasticum; Retinal Pigment Epithelium; Tomography, Optical Coherence
PubMed: 29380784
DOI: 10.4103/ijo.IJO_718_17 -
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 -
BMC Ophthalmology Oct 2017To report the case of a patient with pseudoxanthoma elasticum (PXE) and proliferative diabetic retinopathy (PDR), and discuss the relationship between PXE and diabetic...
BACKGROUND
To report the case of a patient with pseudoxanthoma elasticum (PXE) and proliferative diabetic retinopathy (PDR), and discuss the relationship between PXE and diabetic retinopathy (DR).
CASE PRESENTATION
A 47-year-old man with PXE presented with angioid streaks and DR in both eyes, and bilateral panretinal photocoagulation was performed for treatment. Vitrectomy had previously been performed in his right eye for vitreous hemorrhage due to PDR. Systemic findings included multiple, discrete, symmetrical, small yellow papules bilaterally in the axilla and inguinal region. Examination on presentation showed vitreous hemorrhage in his left eye, and vitrectomy was performed for treatment. Intraoperative findings showed fibrovascular membrane around the optic disc and vascular arcade. A mottled fundus (peau d'orange appearance) associated with angioid streaks was also present, yet there was no evident choroidal neovascularization (CNV). The postoperative course was satisfactory, and corrected visual acuity improved from 0.02 to 0.7 diopters.
CONCLUSION
Despite the peau d'orange appearance in both eyes of this case, no CNV was evident. The vitreous hemorrhage was thus attributed to PDR. Moreover, we reviewed the published literature and discuss the relationship between PXE and DR.
Topics: Angioid Streaks; Diabetic Retinopathy; Fluorescein Angiography; Humans; Male; Middle Aged; Pseudoxanthoma Elasticum; Visual Acuity; Vitrectomy; Vitreous Hemorrhage
PubMed: 28978321
DOI: 10.1186/s12886-017-0569-1 -
Journal of Ophthalmology 2017To report the spectrum of variants in Japanese patients with angioid streaks (AS).
PURPOSE
To report the spectrum of variants in Japanese patients with angioid streaks (AS).
PATIENTS AND METHODS
This was a single-center cohort study. The medical records of 20 patients with AS from 18 unrelated Japanese families were retrospectively reviewed. Screening of the gene (exons 1 to 31) was performed using PCR-based Sanger sequencing.
RESULTS
Eight variants were identified as candidate disease-causing variants. These eight variants included five known variants (p.Q378X, p.R419Q, p.V848CfsX83, p.R1114C, and p.R1357W), one previously reported variant (p.N428S) of unknown significance, and two novel variants (c.1939C>T [p.H647Y] and c.3374C>T [p.S1125F]); the three latter variants were determined to be variants of significance. The following four variants were frequently identified: p.V848CfsX83 (14/40 alleles, 35.0%), p.Q378X (7/40 alleles, 17.5%), p.R1357W (6/40 alleles, 15.0%), and p.R419Q (4/40 alleles, 10.0%). The variants were identified in compound heterozygous or homozygous states in 13 of 18 probands. Two families showed a pseudodominant inheritance pattern. Pseudoxanthoma elasticum was seen in 15 of 17 patients (88.2%) who underwent dermatological examination.
CONCLUSIONS
We identified disease-causing variants that were in homozygous or compound heterozygous states in 13 of 18 families (72.2%). Our results indicated that variants play a significant role in patients with AS in the Japanese population.
PubMed: 28912966
DOI: 10.1155/2017/1079687 -
Indian Journal of Ophthalmology Jul 2017Camurati-Engelmann disease (CED) is a rare autosomal dominant disease with various phenotypic expressions. The hallmark of the disease is bilateral symmetric diaphyseal...
Camurati-Engelmann disease (CED) is a rare autosomal dominant disease with various phenotypic expressions. The hallmark of the disease is bilateral symmetric diaphyseal hyperostosis of the long bones with progressive involvement of the metaphysis. Ocular manifestations occur rarely and mainly result from bony overgrowth of the orbit and optic canal stenosis. We report a case of CED showing angioid streaks (ASs) in both fundi with no macular involvement and discuss the possible theories of the pathogenesis of AS in this disease.
Topics: Adult; Angioid Streaks; Camurati-Engelmann Syndrome; Female; Fluorescein Angiography; Fundus Oculi; Humans; Retina; Tomography, Optical Coherence
PubMed: 28724827
DOI: 10.4103/ijo.IJO_910_16 -
Retina (Philadelphia, Pa.) Aug 2018To evaluate the efficacy and safety of ranibizumab 0.5 mg in adult patients with choroidal neovascularization because of an uncommon cause enrolled in the 12-month... (Randomized Controlled Trial)
Randomized Controlled Trial
PURPOSE
To evaluate the efficacy and safety of ranibizumab 0.5 mg in adult patients with choroidal neovascularization because of an uncommon cause enrolled in the 12-month MINERVA study.
METHODS
In this Phase III, double-masked study, adult (≥18 years) patients (N = 178) were randomized 2:1 to receive either ranibizumab (n = 119) or sham (n = 59) at baseline and, if needed, at Month 1 and open-label individualized ranibizumab from Month 2. Best-corrected visual acuity change from baseline to Month 2 (primary endpoint) and Month 12, treatment exposure, and safety over 12 months were reported. Subgroup analysis was conducted on five predefined choroidal neovascularization etiologies (angioid streak, postinflammatory, central serous chorioretinopathy, idiopathic, and miscellaneous).
RESULTS
Ranibizumab showed superior efficacy versus sham from baseline to Month 2 (adjusted least-squares mean best-corrected visual acuity: +9.5 vs. -0.4 letters; P < 0.001). At Month 12, the mean best-corrected visual acuity change was +11.0 letters (ranibizumab) and +9.3 letters (sham). Across the 5 subgroups, the treatment effect ranged from +5.0 to +14.6 letters. The mean number of ranibizumab injections was 5.8 (ranibizumab arm) with no new ocular or nonocular adverse events.
CONCLUSION
Ranibizumab 0.5 mg resulted in clinically significant treatment effect versus sham at Month 2. Overall, ranibizumab was effective in treating choroidal neovascularization of various etiologies with no new safety findings.
Topics: Adult; Aged; Angiogenesis Inhibitors; Choroidal Neovascularization; Double-Blind Method; Female; Humans; Macular Degeneration; Male; Middle Aged; Myopia; Ranibizumab
PubMed: 28704254
DOI: 10.1097/IAE.0000000000001744 -
Eye (London, England) Nov 2017PurposeTo describe optical coherence tomography (OCT) features in the Bruch's membrane (BM) of eyes with angioid streaks (AS) and evaluate their evolution over the...
PurposeTo describe optical coherence tomography (OCT) features in the Bruch's membrane (BM) of eyes with angioid streaks (AS) and evaluate their evolution over the follow-up.Patients and methodsPatients with AS presenting between March 2016 and September 2016 at two tertiary referral centers were consecutively recruited in this study. Eligibility criteria included prior spectral domain (SD)-OCT images, taken at least 3 months before at the same referral center, with automated eye tracking and image alignment modules. Alterations of BM were described and compared to previous scans over the follow-up. Multimodal imaging was used to identify alteration of retinal pigment epithelium (RPE) and choroid.ResultsThirty-two eyes of 16 consecutive patients with AS were included. BM undulations, mostly observed around the optic nerve head, were found in 19 (59.4%) of 32 eyes. BM breaks were found in 31 (96.9%) out of 32 eyes. Evolution of BM undulations into BM breaks was observed in 5 eyes (15.6%). Choroidal neovascularization (CNV) was observed in 12 eyes (37.5%) during follow-up, typically in areas of BM interruption.ConclusionsBM undulations, probably caused by high stretching forces exerted on the BM around the optic nerve head, seem to precede some BM breaks. BM interruptions may be a preferred way for the growth of CNV, which was identified in one-third of our cases.
Topics: Aged; Angioid Streaks; Bruch Membrane; Choroid; Female; Fluorescein Angiography; Follow-Up Studies; Fundus Oculi; Humans; Male; Optic Disk; Reproducibility of Results; Retinal Pigment Epithelium; Retrospective Studies; Tomography, Optical Coherence; Visual Acuity
PubMed: 28622313
DOI: 10.1038/eye.2017.112