Disk drusen and angioid streaks in pseudoxanthoma elasticum

Visual field loss secondary to optic disk drusen became evident before the development of angioid streaks in a patient with pseudoxanthoma elasticum. The incidence of optic disk drusen in cases of pseudoxanthoma elasticum is 20 to 50 times greater than that in the healthy population. We postulate that the abnormal aggregation of macromolecules with a high affinity for calcium (resulting in abnormalities in elastin in cases of pseudoxanthoma elasticum) also develops at the cribriform plate, disrupting axonal flow and leading to disk drusen formation. Pseudoxanthoma elasticum is associated with marked cardiovascular and gastrointestinal morbidity. Moreover, macular hemorrhage and precipitation of angioid streaks have frequently been noted after trauma. Prompt diagnosis of pseudoxanthoma elasticum will allow necessary prophylaxis and must be considered in patients with optic disk drusen.     

弹性假黄瘤的脉络膜新生血管和血管样条纹症

目的:报告1例表现为双眼视力模糊的48岁女子患弹性假黄瘤病(pseudoxanthoma elasticum,PXE)的病例。方法:病例报告。结果:患者,女,48岁,双眼视力模糊,右眼视物变形。10a前因左眼患血管样条纹症接受激光手术,残余视力较差。右眼视力为20/60,左眼6英尺数指。眼底检查可见视网膜下出血和右侧黄斑增厚及左侧椭圆形黄斑瘢痕伴病灶萎缩性色素上皮病变。双眼有血管样条纹和橙色视网膜色素图案。外部检查发现颈部侧面和后面有几处黄色皮肤丘疹和斑块,以及明显的颏皱褶。皮肤切片病理检查证实了PXE的诊断,显示有网状真皮层深层的钙沉积和成碎片的成丛的弹性纤维。患者对玻璃体内注射贝伐单抗反应良好,右眼视力提高到20/25。强调预防保健的重要性,建议患者求助于心脏病学、胃肠病学和人类遗传学咨询服务。结论:PXE是一个累及多系统的疾病,它影响着皮肤、眼和心血管系统。在固有的皮肤变化和明显的颏皱褶的存在下,血管样条纹症和脉络膜新生血管的眼科发现能提高PXE的评估。     

Choroidal neovascularization and angioid streaks in pseudoxanthoma elasticum

AIM: To report a case of pseudoxanthoma elasticum (PXE) in a 48 year old woman that presented with bilateral blurry vision. METHODS: A case report RESULTS: A 48-year-old woman presented with bilateral blurry vision and right eye metamorphopsia. The patient had a history of angioid streaks in the left eye ten years ago for which she had received laser surgery and had poor residual vision. Visual acuity was 20/60 in the right eye and count fingers at 6 feet in the left. Fundus examination showed subretinal hemorrhage and macular thickening on the right and a disciform macular scar with focal atrophic pigment epithelial lesions on the left. Both eyes had angioid streaks and peau d’orange pigmentary pattern of the retina. External examination showed several, yellow skin papules and plaques on the lateral and posterior neck, as well as prominent mental creases. Pathologic examination of skin biopsy confirmed the diagnosis of PXE, showing calcium deposition and fragmented, clumped elastic fibers in the deep reticular dermis. She responded well to intravitreal bevacizumab injections and visual acuity improved to 20/25 OD. Preventative care was emphasized and the patient was referred to cardiology, gastroenterology and human genetics for counseling. CONCLUSION: PXE is a multisystem disorder affecting the dermatologic, ocular, and cardiovascular systems. Ophthalmic findings of angioid streaks and choroidal neovascularization in the presence of stereotypical skin changes and prominent mental creases should prompt evaluation for PXE.     

Optic nerve drusen and angioid streaks in pseudoxanthoma elasticum

The clinical study presents the association between optic disc drusen and angioid streaks in the context of pseudoxanthoma elasticum, in 8.5% (4 from 47) of the cases. The values are significantly higher compared to those from the normal population (0.34%). This result can be the consequence of pathogenic correlations between the two diseases, in which a role is attributed to the metabolic changes within the pseudoxanthoma elasticum. The starting point seems to be the accumulation of polyanions in the elastin of the cribriform plate, followed by disruption of axonal transport, mitochondrial extrusion and subsequent formation of optic disc drusen.     

Polypoidal choroidal vasculopathy in a patient with angioid streaks secondary to pseudoxanthoma elasticum

Graefe's Archive for Clinical and Experimental Ophthalmology -     

Acute stroke after intravitreal bevacizumab to treat choroidal neovascularization due to angioid streaks in pseudoxanthoma elasticum

To report the occurrence of acute stroke after intravitreal bevacizumab administration to treat choroidal neovascularization due to angioid streaks in a patient affected by pseudoxanthoma elasticum. A 54-year-old man with pseudoxanthoma elasticum had vision loss because of choroidal neovascularization due to angioid streaks. He underwent two intravitreal bevacizumab injections. Three days after the second procedure the patient was afflicted by acute stroke. Intravitreal injection of bevacizumab to treat choroidal neovascularization due to angioid streaks in pseudoxanthoma elasticum could lead to severe systemic adverse events.     

Angioid streaks associated with pseudoxanthoma elasticum in a 13-year-old patient

This report describes a 13-year-old girl who presented with angioid streaks associated with pseudoxanthoma elasticum (PXE). Extensive retinal pigment epithelial (RPE) mottling, known as peau d'orange, characteristic of PXE, was also noted. The potential complication of choroidal neovascularization is described. Physicians should be aware that angioid streaks and their potentially sight-threatening complications can occur in this age group.     

Atypical drusen in pseudoxanthoma elasticum.

Forty-three patients with pseudoxanthoma elasticum were evaluated ophthalmologically. The fundus appearance was characterized by angioid streaks and mottling of the retinal pigment epithelium. Rock-like atypical drusen were present in the posterior pole or peripheral retina in 75% of the patients examined and were an integral part of this fundus picture. These drusen changed little with time and were seen in early stages of pseudoxanthoma elasticum. The histopathology of these drusen is unknown.     

Visual loss associated with pseudoxanthoma elasticum.

An 18-year-old woman with pseudoxanthoma elasticum had sudden profound bilateral visual loss, presumably as a result of optic nerve infarction caused by anemia and hypotension from massive gastrointestinal bleeding. Her central visual acuity largely recovered in her right eye, but her left eye had only hand motions acuity. During the subsequent 24 years, she underwent three separate surgical procedures for gastrointestinal bleeding. Abdominal arterial angiography showed numerous aneurysms of the gastric arteries. A subtotal gastrectomy was done, and histopathologic examination found advanced degenerative changes of the elastic lamina of the gastric arteries. At age 42 years, the patient lost residual vision in her right eye. This was caused by an extrafoveal subretinal choroidal neovascular membrane, which was obliterated with laser photocoagulation. Degeneration of elastic tissue, the primary defect in this syndrome, may cause cardiovascular complications and formation of breaks in the Bruch membrane, which are visible as angioid streaks. Ingrowth of fibrovascular tissue through angioid streaks may cause disturbances of macular function. The optic nerve ischemia and infarction associated with the profound visual loss in this patient reminds the ophthalmologist of the systemic nature of this disorder and the possibility that systemic vascular complications with massive blood loss may occur.     

Macular degeneration in angioid streaks

This study examines different clinical parameters and the occurrence of macular degeneration in a series of 110 patients with angioid streaks of the fundus. Among the parameters considered were: age of the patient at the time of ocular diagnosis, associated systemic disease, optic nerve drusen, peau d'orange appearance in the fundus, number of radiating angioid streaks as well as their length, width, and distance from the fovea. Statistically significant correlations were found between the occurrence of macular degeneration (of the exudative hemorrhagic type) and the following: angioid streak length, distance from the fovea, and the diffuse type or 'cracked egg-shell' fundus appearance.