Retinal autofluorescence imaging in patients with pseudoxanthoma elasticum

Imágenes funduscópicas con autofluorescencia en pacientes con pseudoxantoma elástico

The present study reports a case of a patient with choroidal neovascularization (CNV) associated with pseudoxanthoma elasticum (PXE). We observed the functional and anatomical improvement of the patient treated with intravitreal vascular endothelial growth factor (VEGF) inhibitor bevacizumab. The study also systematically searched the database for similar cases to provide a literature review. Data concerning the clinical features, treatment strategies and outcomes were extracted and analyzed. Retrospective interventional case report and systematic literature review. A 56-year-old healthy Chinese woman with CNV secondary to PXE was reported. Examinations included best corrected visual acuity (BCVA), biomicroscopy, optical coherence tomography (OCT), fluorescein and indocyanine green angiography and digital fundus photography. The patient managed with intravitreal anti-vascular endothelial growth factor (anti-VEGF) injections (bevacizumab 1.25 mg/0.05 mL). The Cochrane Library, PubMed, OVID, and UpToDate databases were searched using the term pseudoxanthoma elasticum or Gronblad-Strandberg syndrome with the limits English. Articles that predated the databases were gathered from current references. Fundus examination revealed angioid streaks bilaterally and CNV in left eye (LE). After the patient underwent three intravitreal injections of bevacizumab, the LE showed absorption of the subretinal fluid and shrinkage of the CNV. Visual acuity (VA) was improved in her treated LE. Bevacizumab treatment was well tolerated with no adverse events reported. Approximately ten articles about 45 patients (49 eyes) describing CNV secondary to angioid streaks in PXE treated with anti-VEGF were found in the literature search. In the present case, bevacizumab of an initial three injection loading dose, achieved maintenance of visual function in the treatment of CNV associated with angioid streaks in PXE. Literature articles concluded that the intravitreal application of anti-VEGF is highly efficient for improving and stabilizing the lesion as well as the eyesight. So we believe that anti-VEGF therapy can be a great choice of treatment for CNV secondary to angioid streaks related PXE.

To report a case with concentric retinal pigment epithelium (RPE) atrophy after a single photodynamic therapy (PDT). We report a case of a 33-year-old female patient who developed RPE atrophy after a single standard PDT for treatment of a juxtafoveal, predominantly classic choroidal neovascularization (CNV). After a single PDT treatment, visual acuity increased from 20/50 to 20/20. Six weeks after PDT, a concentric area of RPE atrophy was clearly visible on fluorescein angiogram. This circular area corresponded to the 3500 microm diameter of the laser spot used in the PDT treatment. The visual acuity and the RPE atrophy remained stable over the follow-up period of 3 years. We are unable to explain the exact mechanism of the observed RPE changes; however, they did not lead to loss of visual acuity. Different reasons for the RPE atrophy such as collateral damage of the choriocapillaris with a subsequent secondary RPE atrophy, a direct photochemical effect due to the early localization of the photosensitizer in the RPE, or a depigmentation or photobleaching of the RPE, which led to a window defect in the fluorescein angiogram without loss of the major functional properties of the RPE, are possible mechanisms involved in the development of the documented lesion.

Editor, Angioid streaks are irregular, greyish lines that surround the optic disc and extend radially outwards. They are associated with different disorders, the most frequent being pseudoxanthoma elasticum or Grönblad−Strandberg syndrome. In a large proportion of cases, they are associated with choroidal neovascularization (CNV). The treatment most frequently employed for CNV is photodynamic therapy (PDT). However, the current use of antiangiogenic agents for CNV secondary to age-related macular degeneration (AMD) opens a new avenue to treatment for patients affected by CNV secondary to other disorders. Texeira et al. (2006) reported a case of CNV-associated angioid streaks treated with bevacizumab with very good results. We report a case of subfoveal CNV-associated angioid streaks treated with intravitreal pegabtanib sodium. A 41-year-old man presented with a sudden decrease in visual acuity (VA) in the left eye. His best corrected VA was 45 letters (ETDRS). In direct ophthalmoscopy, angioid streaks were observed in both eyes and a lesion suspected of being a neovascular membrane was seen in the foveal area of the left eye (LE). Fluorescein angiography (FA) showed an occult CNV in the LE. Optical coherence tomography (OCT) showed evidence of pigment epithelial detachment (PED) and intraretinal oedema (Fig. 1). Treatment was started with intravitreal injections of sodium pegabtanib (Macugen® 0.3 mg/0.5 ml; ) at regular intervals, with 6 weeks between injections. Four injections of pegabtanib were administered. After 36 weeks, BCVA in the LE was 79 letters. No leakage was seen on FA. Examination by OCT showed a dramatic improvement in the PED and complete disappearance of the intraretinal oedema. No systemic or ocular side-effects were reported. Up figures: fluorescein angiography (FA) and optical coherence tomography (OCT) before treatment; Down figures: FA and OCT post treatment. The most frequent cause of vision loss in patients with angioid streaks is CNV, which occurs in 86% of cases. Photodynamic therapy with verteporfin (Visudyne®) had been the most broadly applied treatment for this type of CNV until the new antiangiogenic therapies emerged. Various authors have found differing results with PDT (Arias et al. 2006; Browning et al. 2002; Karacorlu et al. 2002), but some of the series reported were affected by significant limitations (Arias et al. 2006; Browning et al. 2002; Karacorlu et al. 2002). Antiangiogenic agents are a new therapy for AMD and depend on their inhibitory effect on vascular endothelial growth factor (VEGF). Pegabtanib avoids significant visual loss in patients affected with AMD (Chakravarthy et al. 2006). In addition, bevacizumab and ranibizumab have appeared as alternatives. Texeira et al. (2006) reported a case of CNV associated-angioid streaks treated with two injections of bevacizumab (Avastin®), in which a dramatic visual recovery was seen, along with lack of leakage in OCT and FA. The fundamental difference between this case and the one we present concerns the type of CNV. Texeira et al. (2006) described a classical neovascular membrane; by contrast, our case involved a neovascular membrane of the occult type, which is less frequently associated with angioid streaks. Another difference concerns the number of injections: our case required four injections, whereas Texeira et al. (2006) administered two. Best corrected VA at the end of treatment was very good in both cases. Further research is required, involving detailed studies with extended follow-up to determine the efficacy and safety of intravitreal sodium pegabtanib (Macugen®; pfizer) in the treatment of CNV associated with angioid streaks.

Communications between the ciliary and retinal circulations have been described in association with central retinal artery occlusion,^1,2meningioma of the optic nerve,¹and op-tic disc drusen.³We examined a patient with angioid streaks and pseudoxanthoma elasticum who had a congenital communication between cilioretinal and retinal arteries. <h3>Report of a Case.</h3> A 35-year-old woman was examined for decreased vision in the left eye. Her best-corrected visual acuity was 20/20 OD and 20/200 OS. Results of a slit-lamp examination were normal and intraocular pressures by applanation tonometry were 14 mm Hg bilaterally. Ophthalmoscopy disclosed bilateral angioid streaks with associated peau d'orange pigmentary change. In the right eye, a cilioretinal artery coursing inferior and then temporal to the fovea communicated directly with a superotemporal branch retinal artery (<b>Figure 1</b>). Fluorescein angiography confirmed that angioid streaks were present (<b>Figure 2</b>). It showed retrograde filling of the cilioretinal artery from the superotemporal

To evaluate the efficacy of intravitreal anti-VEGF injections in choroidal neovascularization (CNV) related to pattern dystrophy-like deposit in pseudoxanthoma elasticum (PXE). One-year prospective, interventional study. Nine eyes were recruited in the ophthalmology departments of San Raffaele University and University of Barcelona. Each patient underwent best corrected visual acuity (BCVA) measurement on ETDRS chart, slit-lamp biomicroscopy, fluorescein angiography (FA), indocyanine green angiography (ICGA), and optical coherence tomography (OCT). The protocol included a first anti-VEGF injection, followed by monthly evaluations with re-treatments based on new funduscopic hemorrhages, fluid on OCT or leakage on FA and/or ICGA. Primary outcome measures were the mean BCVA changes. Secondary outcomes included central macular thickness (CMT) variations and the number of injections needed. At month 12, mean BCVA significantly improved from 20/45 to 20/35 Snellen equivalent, with 3 eyes gaining at least 3 ETDRS lines. Mean CMT decreased from 297 ± 22 to 262 ± 13μm, after 5.5 ± 4.0 injections. No leakage was observed at the end of follow-up. Intravitreal anti-VEGF injections represent an effective treatment for CNV related to pattern dystrophy-like deposit in PXE, with an improvement of BCVA and CMT. Mean injection number is in line with other studies performed in CNV secondary to angioid streaks.

Visual outcomes, incidence and risk factors for RPE atrophy in myopic patients with dome-shaped macula and serous retinal detachment.

Angioid streaks are irregular, peripapillary brown to red curvilinear bands that extend in a weblike manner from the optic disc (Fig 1). Often confused with blood vessels, angioid streaks are wider, with tapering ends, lie below the normal retinal vasculature, and are readily discerned by direct ophthalmoscopy. Their importance lies in their association with a host of systemic disorders. Pseudoxanthoma elasticum (PXE), Paget's disease of the bone, and sickle-cell disease account for the majority of diseases linked to angioid streaks. PXE can be demonstrated in more than half the patients with angioid streaks 1,2 ; in one large series, 85% of patients with PXE demonstrated angioid streaks. 3 Additional associated conditions include acromegaly, abetalipoproteinemia, diabetes mellitus, Ehlers-Danlos syndrome, hemochromatosis, facial hemochromatosis, hemolytic anemia, hypercalcinosis, hyperphosphatemia, neurofibromatosis, senile elastosis, Sturge-Weber syndrome, tuberous sclerosis, lead poisoning, and myopia. 1 Additional ocular findings in PXE include a diffuse, yellowish mottling of the retinal pigment

Photodynamic therapy using verteporfin for choroidal neovascularization in angioid streaks

Present the diagnosis and therapeutic approach in a patient with pseudoxanthoma elasticum and ocular involvement. A 46-year-old patient presented for progressive loss of vision and metamorphopsias in the left eye. The ophthalmological examination showed angioid streaks and secondary choroidal neovascularization. The dermatologist performed an incisional biopsy of a skin area in the right axilla that showed white-yellow, discrete streaks. Histopathological examination confirmed the diagnosis of pseudoxanthoma elasticum. It was decided to start intravitreal injections with aflibercept. Three injections were made in the left eye with subsequent visual acuity improvement. Angioid streaks are a rare retinal condition, and pseudoxanthoma elasticum is the most common association. Other systemic conditions are Ehlers-Danlos syndrome, Paget's disease, and hemoglobinopathies. Definite diagnosis requires skin lesions or calcified elastic fibers on pathological examination and angioid streaks of the retina. Choroidal neovascularization is a frequent complication and leads to vision loss. Intravitreal inhibitors of vascular endothelial growth factor are currently the first line of treatment. Pseudoxanthoma elasticum has numerous systemic manifestations and requires a multidisciplinary team to be monitored and treated.

Editor, Angioid streaks are irregular, radiating, jagged, tapering lines that extend from the peripapillary area into the peripheral fundus that may occur in isolation or as the ocular manifestation of a systemic disease. Linear breaks or dehiscence in a thickened, calcified and abnormally brittle Bruch's membrane can be associated with choroidal neovascularization (CNV) and poor vision. Several treatments have been attempted with limited success and high rates of recurrence (Costa et al. 2003; Shaikh et al. 2003; Aras et al. 2004). We report a case of subfoveal CNV due to angioid streaks treated with intravitreal bevacizumab 1.25 mg. A 23-year-old man with angioid streaks was referred for subfoveal CNV in his right eye (OD). He had suffered visual loss in the left eye (OS) after minor trauma. Best corrected visual acuity (BCVA) was counting fingers at 2 m OD and 20/400 OS. Fundus examination revealed peripapillary angioid streaks in both eyes, a grey subfoveal lesion with subretinal haemorrhage and subsensory fluid OD and a large pigmented macular scar OS. Fluorescein angiography (FA) revealed a subfoveal classic CNV associated with leakage and peripapillary hyperfluorescence corresponding to the angioid streaks OD and a staining of disciform scarring with no active leakage in the macula OS. Optical coherence tomography (OCT) showed neurosensory serous detachment and type 2 CNV OD (1, 3). The patient was counselled as to the prognosis of his condition and treatment options. Photodynamic therapy was offered but not accepted and an intravitreal injection of bevacizumab 1.25 mg was administered. (A) Early and (B) late-phase fluorescein angiography images at baseline. Optical coherence tomography scans at 6-mm at (A) baseline and (B) 18 weeks post-injection. After 7 weeks, VA was 20/40 and some residual leakage was seen at the lesion margin on FA. The subject underwent a second injection. After 12 weeks VA was 20/30, fundus examination showed no subsensory fluid, and OCT and FA revealed no leakage (2, 3). (A) Early and (B) late-phase fluorescein angiography images at 18 weeks after treatment Choroidal neovascularization occurs in 70–86% of patients with angioid streaks and more than half have vision of 20/200 or worse after the age of 50 years. It has been suggested that laser photocoagulation might resolve CNV and help to stabilize VA or slow down visual loss, given the very high frequency of recurrence (Lim et al. 1993). Other therapies such as photodynamic therapy, Indocyanine green-mediated photothrombosis (IMP) and transpupillary thermotherapy have recently been proposed as alternative treatments for CNV associated with age-related macular degeneration (AMD) and others types of CNV but they do not appear to change the course of the disease and the visual prognosis is poor (Lim et al. 1993; Costa et al. 2003; Shaikh et al. 2003; Aras et al. 2004). This is the first case report of intravitreal injection of bevacizumab in a patient with subfoveal CNV with angioid streaks. Our patient demonstrated a significant improvement at 18 weeks, with VA of 20/30. There was no evidence of inflammation by either OCT or FA at this time-point. Vascular endothelial growth factor (VEGF) has been implicated as the major angiogenic stimulus responsible for neovascularization in AMD. Bevacizumab has shown promising results in off-label intravenous injections administered as salvage treatment (Rosenfeld et al. 2005). A formal prospective study is necessary to determine the safety and efficacy of intravitreal bevacizumab in the treatment of CNV.

To analyze the retinal and choroidal vascular abnormalities in eyes with angioid streaks (AS) associated with pseudoxanthoma elasticum (PXE). Color photographs and fluorescein angiograms of 54 eyes of 27 consecutive patients with AS and PXE were examined retrospectively. Four (7%) of the 54 eyes had a major vascular abnormality at the level of the disc; this took the form of a large vascular loop corresponding to an arteriovenous communication between retina and choroid in 3 eyes (6%) and an anastomosis between 2 retinal arteries in 1 eye (2%). Analysis of the vascular network in these eyes showed several vascular abnormalities, among which chorioretinal arteriovenous communications appear to be the most dramatic.

Macular oedema is a common complication and vision-limiting factor in uveitis. The aim of this study was to compare retinal thickness as measured by optical coherence tomography and photoreceptor function as measured by fundus-related microperimetry with respect to their correlation with visual acuity. Prospective observational monocentre study. Thirty-one patients (53 eyes) with endogenous uveitis and fluorescein angiographically confirmed macular oedema were evaluated. Foveal thickness was analysed using spectral-domain (Spectralis(TM) ; Heidelberg Engineering, Heidelberg, Germany) OCT and retinal sensitivity was assessed using fundus-related microperimetry (MP1; Nidek Technologies, Padova, Italy). All findings were correlated with best-corrected visual acuity (BCVA). Foveal thickness was correlated with BCVA [p = 0.005, r = 0.38, 95% confidence interval (CI) 0.12-0.59]. For microperimetry measurements, a negative correlation with logMAR visual acuity was found. Fixation abnormalities were not associated with poor visual acuity, increased foveal thickness or retinal sensitivity. In eyes with cystoid changes in the outer plexiform and inner nuclear layer, foveal thickness was increased (p < 0.0001). Epiretinal membrane formation was present in 70%. In these eyes, foveal thickness was significantly increased (p = 0.003) and visual acuity was worse (p = 0.08). Foveal thickness and fundus-related microperimetry were correlated with visual acuity. Cystoid changes in the outer plexiform and inner nuclear layer and the presence of epiretinal membrane were associated with poor visual acuity. Fixation abnormalities were not associated with poor visual acuity.

To describe a successfully treated case of autologous retinal pigment epithelium and choroidal patch in a patient with choroidal neovascularization secondary to angioid streaks. A 53-year-old man with angioid streaks and a subfoveal choroidal neovascularization underwent autologous retinal pigment epithelium and choroid transplantation. Lensectomy, pars plana vitrectomy, 200° peripheral temporal retinotomy, isolation of the patch, endolaser, and silicone oil tamponade 1,000 cts were performed. Preoperative and postoperative ophthalmic examinations included best-corrected visual acuity, fluorescein angiography, indocyanine green angiography, autofluorescence, and optical coherence tomography. Two months after surgery, best-corrected visual acuity (Snellen equivalent) improved from 20/200 to 20/100. At 6 months, best-corrected visual acuity further increased to 20/40 and the reading ability, which was absent preoperatively, improved to J2. Visual results were maintained after 2.5 years and no recurrence of choroidal neovascularization was observed. Transplantation of a full-thickness patch of retinal pigment epithelium and choroid under the fovea may be considered to prevent retinal atrophy with significant visual improvement in the case of a low active choroidal neovascularization secondary to angioid streaks. Moreover, preoperative optical coherence tomography might guide in highlighting those patients in whom the outer retinal layers are still visible as the best candidate for surgery.

PurposeTo investigate the anatomical changes and the macular function in neovascular age-related macular degeneration (AMD) eyes, according to the recognition of either fibrocellular or fibrovascular phenotype.MethodsWe enrolled eyes with previously...