: Angioid Streaks and Pseudoxanthoma Elasticum

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Angioid Streaks and Pseudoxanthoma ElasticumPresented by: Lombardo, M.D., Ph.D.Case Presentation61 y.o. black female with poor vision.CLINICAL FEATURESIrregular, spokelike, curvilinear breaks in Bruch's membrane.Radiate outward from the peripapillary area in all directions.Almost always bilateral. Red to dark brown in color; gray if fibrovascular tissue is present.Hyperpigmentation or atrophy of retinal pigment epithelium (RPE) may occur at the margin of a streak. Streaks asymptomatic, but complications cause visual loss.Main cause of visual loss is choroidal neovascularization (CNVM), RPE detachment, and macular degeneration.In one series, macular degeneration in 72%, exudative maculopathy in 57%, atrophic maculopathy in 14%.In another series, macular degeneration associated with length of streak and distance of streak from fovea. FLUORESCEIN ANGIOGRAPHIC FINDINGSMost observe early hyperfluorescence of streaks with late staining. Others observe hypofluorescence of streaks themselves with hyperfluorescence of margins of streaks, which stain late.Theory is underlying choriocapillaris may separate and produce nonperfusion area of streak itself, which may cause hypofluorescence. Peau d'orange: hypofluorescent areas on F.A., which may represent focal defects of Bruch's membrane and choriocapillaris. NATURAL HISTORYAsymptomatic early.20/200 or worse after 50 y.o.In one study, >50% 20/40 at diagnosis, >50% worse than 20/200 at average of 3.6 y. Cause of vision loss is macular degeneration or choroidal neovascularization.Macular degeneration in 70% of those with angioid streaks. Exudative form more common than atrophic type of maculopathy in patients with angioid streaks.Exudative form less common with angioid streaks associated with sickle cell disease.Not always associated with foveal angioid streak and does not occur in all patients with a streak through fovea. CNVM present in at least one eye of 86% of those with angioid steaks. Minor trauma may cause subretinal hemorrhage, often with macular involvement. SYSTEMIC ASSOCIATIONSOccurs in 50-65% of those with angioid streaks.PXE (34-61%), Paget's disease (10%), and hemoglobinopathy (6%). Pseudoxanthoma Elasticum (PXE)Systemic elastorrhexis affecting skin, eyes, GI system, heart.Female:male = 2:1Diagnosed 20's - 30's.Inherited either A.R. or A.D.Thought to be a result of accumulation of polyanions in dermis that attract calcium, which cause mineralization. Skin changes: Redundant waxy, yellow papule-like lesions on neck, face, abdomen, axillary areas, inguinal regions, periumbilical area, and oral mucosa-"plucked chicken."Skin biopsy: elastic tissue staining of the deep dermis, often with calcification. Systemic findings: cerebral ischemia, stroke, intracranial aneurysms, claudication, hypertension, MI, GI hemorrhage. Angioid streaks in 85% of those with PXE. Peau d'orange: diffuse mottling of the RPE (multiple yellowish lesions). Optic disk drusen: commonly associated with PXE and angioid streaks (10%, 5.8%).Incidence 20-50 times normal in patients with PXE.Disk drusen first manifestation? Paget's Disease Connective tissue disorder involving collagen matrix of bone.Males=females.Enlarged bone mass, extraskeletal calcifications of skin and arteries.Elevated serum alkaline phosphatase and characteristic radiographic findings Angioid streaks found in 8 - 15%. Presence of angioid streaks associated with more severe systemic disease. HemoglobinopathiesAppear in 1-2% of patients with hemoglobinopathies.Incidence increases with age.Complications (CNVM and macular degeneration) uncommon with angioid streaks associated with sickle cell disease. Other Systemic AssociationsMany-question coincidence.Ehlers-Danlos PATHOPHYSIOLOGYControversial.Calcified and brittle Bruch's membrane in PXE and Paget's.Various theories for sickle cell-elastic degeneration, iron deposition, impaired nutrition, small vessel occlusion. TREATMENTSafety glasses. No contact sports. Low vision aids. Genetic counseling.CNVM treated with laser. Recurrences more common with CNVM associated with angioid streaks than with CNVM associated with other macular disorders.Case Report:............................POH: Diagnosed with pseudoxanthoma elasticum (PXE) at approximately age 48. Transferred care to Wilmer at age 52, reporting gradual loss of central vision and previous laser therapy O.D. At that time, her VA was 20/300 O.D. and 4/200 O.S. Angioid streaks and disciform scars were noted on each fundus. Her refraction was maximized at +7.25 sphere O.U., and she uses magnifying low vision aids.She was diagnosed with glaucoma with IOP = 20 O.D., 28 O.S., and C/D = 0.6 O.D., 0.8 O.S. This was managed with multiple medications and eventually necessitated an argon laser trabeculoplasty O.S. to meet the target I.O.P. of 15.She presents to the General Eye Service for routine follow up without new ocular symptoms. PMH: DM (diet-controlled), hypertension, partial complex seizures, degenerative arthritis of knees, irregular heart rate, previous ectopic pregnancy. Meds: levobunolol, Trusopt, and Xalatan O.U. All: N.K.D.A.carbamazepine p.o. FH: Mother with PXE, father with glaucoma. Brother, other relatives unknown to patient.Vcc 20/400, PH NI C gross 3/3 P 4 mild L. RAPD Ta 15 20/400, PH NI gross 3/3 4 15 Ext. E.O.M.: 45 P.D. XT, fixing with O.D. S.L.E.: Normal O.U. D.F.E.:

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