Optical coherence tomography angiography features of choroidal neovascularization secondary to angioid streaks.

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.

Inborn Errors of Metabolism: Pseudoxanthoma Elasticum.

Pseudoxanthoma elasticum (PXE) is an autosomal recessive multisystem disorder that involves the skin, GI tract, and heart, as well as the eye. It affects approximately 1 in 50,000 people worldwide and is seen twice as frequently in females as in males. Fundus findings include angioid streaks (Fig. 38.1), reticular macular dystrophy, speckled appearance temporal to the macula (peau d'orange, like the dimpled texture of an orange peel), drusen of the optic nerve, and vitelliform-like deposits. Peau d'orange may precede the development of an angioid streak. "Comets," with or without a tail, are seen as solitary subretinal, nodular white bodies of retinal pigment epithelium (RPE) atrophy, usually present in the mid periphery (Fig. 38.2). The tail points toward the optic disc. Patients sometimes develop choroidal neovascular membrane. Skin changes (plucked chicken-like appearance) occur on the flexure areas, including the neck and axilla, as well as increased skin laxity with excessive skin folding. Cardiovascular changes include accelerated atherosclerosis with occlusive vascular disease leading to angina, hypertension, restrictive cardiomyopathy, mitral valve prolapse, and others. Progressive calcification and fragmentation of elastic fibers in the skin, eye, and cardiovascular system is the underlying pathophysiology.

Reticular Pseudodrusen and Thin Choroid Are Associated With Angioid Streaks.

BACKGROUND AND OBJECTIVE: To report the association of angioid streaks in patients with Pseudoxanthoma elasticum (PXE) with reticular pseudodrusen (RPD), thin choroid, and retinal pigment epithelium (RPE) atrophy using swept-source optical coherence tomography (SS-OCT) and short-wave autofluorescence (SWAF). PATIENTS AND METHODS: Retrospective cross-sectional study. Records of consecutive patients with angioid streaks due to PXE, who presented with a decrease of vision due to choroidal neovascularization (CNV), were reviewed for best-corrected visual acuity, color fundus photographs, SS-OCT, SWAF, and red-free images with special emphasis on presence or absence of RPD, subfoveal choroidal thickness (SFCT), and RPE atrophy. RESULTS: Sixteen eyes of eight patients with a mean age of 45.5 years ± 9.4 years were enrolled in the study. RPD were seen in 10 of the 16 eyes and were seen commonly along the superotemporal quadrant. Mean subfoveal thickness in study eyes (175.7 µm ± 37.2 µm) was significantly reduced when compared to controls (286.4 µm ± 40.8 µm). The mean SFCT was similar between the eyes with and without CNV. Four eyes had RPE atrophy in the macular area, whereas four eyes had peripapillary RPE atrophy. CONCLUSIONS: Angioid streaks in PXE are associated with RPD, thin choroid, and RPE atrophy. These features occur at a younger age as compared to age-related macular degeneration and appear to be interrelated because of single pathophysiological mechanism. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:402-408.].

An atypical case of choroidal neovascularization associated with pseudoxanthoma elasticum treated with intravitreal bevacizumab: a case report.

BACKGROUND: Pseudoxanthoma elasticum is an inherited disorder that is associated with accumulation of pathologic elastic fibers in the skin, vascular walls and Bruch's membrane in the eye. Choroidal neovascularization is one of the most common causes of acute vision loss in these patients. We report an atypical case of suspected choroidal neovascularization associated with pseudoxanthoma elasticum. CASE PRESENTATION: A 47-year-old Caucasian woman with pseudoxanthoma elasticum and angioid streaks was referred because of decreased and distorted vision in her right eye of one week's duration. Visual acuity was 6/12 in the right eye and 6/6 in the left eye. Fundus examination revealed angioid streaks and white intraretinal macular deposits bilaterally. Fluorescein angiography did not reveal any obvious leakage in the right eye while optical coherence tomography revealed subretinal fluid associated with an adjacent intraretinal hyperreflective structure. Autofluoresence imaging showed focal areas of increased autofluorescence corresponding to the deposits in both eyes. Over the following year the patient underwent five intravitreal injections of bevacizumab (Genentech/Roche,US) in the right eye, which resulted in visual acuity improving to 6/9 with regression of the hyperreflective structrure and complete resolution of subretinal fluid. CONCLUSIONS: Traditionally, fluorescein angiography is effective in the detection of choroidal neovascularization in patients with pseudoxanthoma elasticum. In our case, optical coherence tomography revealed subretinal fluid and an adjacent hyperreflective structure while fluorescein angiography did not reveal any obvious leakage. The sole presence of subretinal fluid does not necessarily imply the presence of choroidal neovascularization and certainly retinal pigment epithelium dysfunction could also explain subretinal fluid in these patients. However, the complete absorption of the fluid and the disappearance of the previously evident hyperreflective structure following treatment, led us to suspect choroidal neovascularization as the primary cause of the above findings. The poor natural course of choroidal neovascularization in these patients increases the importance of early detection and should result in the adaptation of a low-threshold strategy concerning the initiation of treatment.

[Retinal autofluorescence imaging in patients with pseudoxanthoma elasticum]. / Imágenes funduscópicas con autofluorescencia en pacientes con pseudoxantoma elástico.

PURPOSE: To evaluate the autofluorescence findings in patients diagnosed with pseudoxanthoma elasticum. MATERIAL AND METHODS: A prospective study was conducted on 18 eyes of 9 patients who had ocular pathology andfollowed up in the pseudoxanthoma elasticum (PSX) unit of our hospital. We evaluated the best corrected visual acuity (BCVA), colour and autofluorescence photography (AF), and fluorescein angiography (FA) in patients with choroidal neovascularitation. RESULTS: Of the 9 patients, 7 were women and 2 were men. The mean age was 40 +/- 14 years. The BCVA ranged from 1 to 0.01 (Mean 0.65 +/- 0.4). All patients showed PSX injuries. Angioid streaks (AS) 18 (100%), peau d'orange 16 (87.5%) and pigmented fibrotic plates 5 (31,5%). We observed different hypoautofluorescence patterns (RPE atrophy), of which 2 of them were AS patterns (irregular lines with hyperautofluorescence speckled in its interior and edges, or bands with lobulated lesions inside and hyperautofluorescence at the edges), and finally widespread areas of hypoautofluorescence, larger than observed by ophthalmoscope. CONCLUSIONS: Autofluorescence in patients with PSX is an easy method to evaluate the initial level of ophthalmoscopic involvement and its subsequent progression. The extensive changes in the retinal pigment epithelium (RPE) suggests the important role of this in the physiopathology of the disease.

Relationship between the distribution of pseudoxanthoma elasticum skin and mucous membrane lesions and cardiovascular involvement.

Pseudoxanthoma elasticum (PXE) primarily affects organs that are abundant in elastic fibers, such as the skin, eye and blood vessels, and may eventually cause loss of vision or cardiovascular disease (CVD). Because CVD is a potentially life-threatening complication, its early detection is important for improving the quality of life of PXE patients. To determine the relationship between the distribution of skin and mucous membrane lesions and the prevalence of CVD in patients with PXE, we examined 14 PXE cases who presented between 2004 and 2007. All patients had angioid streaks (AS) and positive pathological findings. The skin lesions in PXE patients are distributed discontinuously and thus the degrees of skin involvement were assessed by determining the presence or absence of PXE skin and mucous membrane lesions in six sites (oral mucosa, neck, periumbilical region, cubital fossa, axillae and inguinal regions). Each site was given a binary score (i.e. present = 1, absent = 0) irrespective of severity and the scores were summed to yield a total distribution score (potential range of 0-6). Four cases had PXE-associated CVD. Their mean distribution score was 5.7, which was significantly higher than the score of the cases without CVD (1.8) (P = 0.0049). There was also significant correlation between the high distribution score (P = 0.0053) as well as CVD (P = 0.029) with the maximum width of AS. A higher distribution score and the presence of oral mucosal lesions were associated with CVD. This scoring method may be useful for predicting the presence of CVD in PXE patients.

Complementary angiographic and autofluorescence findings in pseudoxanthoma elasticum.

Pseudoxanthoma elasticum (PXE) is a systemic disease with characteristic findings on fundus examination. The fundus findings may be difficult to detect with ophthalmoscopy. A case report is described as follows. A PXE patient had subtle retinal findings on fundoscopy that were more prominently seen using a combination of both fundus autofluorescence (FAF) imaging and indocyanine green (ICG) angiography. The fundus features visualized using each of these two modalities appeared different from each other. FAF imaging and ICG angiography may be able to more prominently detect pathology at the level of the retinal pigment epithelium and Bruch's membrane, respectively. The use of these imaging modalities together may be complementary and useful in the evaluation of patients with PXE.

Angioid streaks - clinical course and photodynamic therapy. Case report.

Angioid streaks develop as a result of damage to the Bruch's membrane. They may occur as idiopatic angioid streaks or in association with pseudoxanthoma elasticum, Paget's disease and the haemoglobinopathies. Other pathologies of the fundus of eye may coexist together with angioid streaks, such as drusen of an optic disc and granular-like retina in posterior pole known as "peau d'orange". Subretinal neovascularization as well as atrophy in macula are also observed in the cases of long-lasting pathologies. The diagnosis is based mainly on clinical manifestations. Photodynamic therapy in treatment patients with secondary choroidal neovasularisation appeared to be effective.

A case of sterile endophthalmitis after repeated intravitreal bevacizumab injection.

PURPOSE: The aim of this study was to describe a case of sterile endophthalmitis after repeated intravitreal bevacizumab injections for the treatment of choroidal neovascularization secondary to angioid streaks. METHODS: This study was done as a case report. RESULTS: A 57-year-old man who received a third injection of intravitreal bevacizumab for the treatment of choroidal neovascularization owing to angioid streaks developed sterile endophthalmitis. The patient's condition improved after hourly topical steroid and antibiotic drops without a sequele. CONCLUSIONS: The intravitreal injection of bevacizumab has the potential for the development of sterile endophthalmitis. The patients should be warned against this possible adverse reaction, especially after repeated injections.

Loss of vision associated with angioid streaks in beta-thalassemia intermedia.

An acquired diffuse elastic tissue defect that resembles inherited pseudoxanthoma elasticum (PXE) has been noticed with a significant age-related frequency in hemoglobin disorders, especially beta-thalassemia and has been held responsible for a number of complications observed in these cases, some of which are quite severe. We report here two patients with beta-thalassemia intermedia, who presented with severe visual acuity impairment associated with angioid streaks, the typical ocular manifestation of PXE.