Ophthalmologic Manifestations of Pseudoxanthoma Elasticum Treatment & Management
- Author: Andrew A Dahl, MD, FACS; Chief Editor: Hampton Roy, Sr, MD more...
Evaluation for patients with pseudoxanthoma elasticum usually can be conducted on an outpatient basis. The most visually devastating complication of angioid streaks in the eye is neovascular membrane formation in the macula at the level of the pigment epithelium-Bruch membrane. This is similar to the neovascularization seen in age-related macular degeneration (ARMD).
If choroidal neovascularization (CNV) is found on clinical examination, fluorescein angiography and optical coherence tomography (OCT) may be helpful in delineating and documenting the location and size of a neovascular membrane. Therapy with intravitreal antivascular endothelial growth factor (anti-VEGF) agents should be considered. Neovascular membranes away from the fovea have also been treated via laser. Photodynamic therapy has had limited success in the treatment of CNV. Although repeated intravitreal injection of the fusion protein aflibercept or the monoclonal antibody ranibizumab or the off-label use of bevacizumab seems to maintain visual acuity, CNV frequently recurs or new areas of CNV may develop.
In a small case series of patients with pseudoxanthoma elasticum, 20% of eyes had geographic atrophy independent of choroidal neovascularization. Linear pigmented pattern dystrophy appeared to predate geographic atrophy. Recognition of geographic atrophy is important as therapies to slow or reverse geographic atrophy, including ciliary neurotrophic factor delivered by an encapsulated cell, stem cell therapy, fenretinide, doxycycline, sirolimus, and fluocinolone acetonide intravitreal implants, are under investigation.
If keratoconus is found in association with pseudoxanthoma elasticum, management with contact lenses, riboflavin-assisted cross-linking, or penetrating keratoplasty can be used, similarly to patients without pseudoxanthoma elasticum.
See the list below:
Dietary restriction of calcium and phosphorus to minimum daily requirement levels has shown arrest in progression of the disease.
Eye protection for contact sports or physical activity is indicated.
Patients with pseudoxanthoma elasticum who are exposed to ocular trauma are predisposed to the development of angioid streaks and subsequent visual loss.
Lim JI, Bressler NM, Marsh MJ, Bressler SB. Laser treatment of choroidal neovascularization in patients with angioid streaks. Am J Ophthalmol. 1993 Oct 15. 116(4):414-23. [Medline].
Bergen AA, Plomp AS, Schuurman EJ, Terry S, Breuning M, Dauwerse H. Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat Genet. 2000 Jun. 25(2):228-31. [Medline].
Struk B, Neldner KH, Rao VS, St Jean P, Lindpaintner K. Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1. Hum Mol Genet. 1997 Oct. 6(11):1823-8. [Medline].
Charbel Issa P, Finger RP, Holz FG, Scholl HP. Multimodal imaging including spectral domain OCT and confocal near infrared reflectance for characterization of outer retinal pathology in pseudoxanthoma elasticum. Invest Ophthalmol Vis Sci. 2009 Dec. 50(12):5913-8. [Medline].
Finger RP, Charbel Issa P, Ladewig M, Holz FG, Scholl HP. Intravitreal bevacizumab for choroidal neovascularisation associated with pseudoxanthoma elasticum. Br J Ophthalmol. 2008 Apr. 92(4):483-7. [Medline].
Sawa M, Gomi F, Tsujikawa M, Sakaguchi H, Tano Y. Long-term results of intravitreal bevacizumab injection for choroidal neovascularization secondary to angioid streaks. Am J Ophthalmol. 2009 Oct. 148(4):584-590.e2. [Medline].
Schoenberger SD, Agarwal A. Geographic chorioretinal atrophy in pseudoxanthoma elasticum. Am J Ophthalmol. 2013 Oct. 156(4):715-23. [Medline].
Agarwal A, Patel P, Adkins T, Gass JD. Spectrum of pattern dystrophy in pseudoxanthoma elasticum. Arch Ophthalmol. 2005 Jul. 123(7):923-8. [Medline].
Albert DM, et al. Pseudoxanthoma elasticum (PXE)-angioid streaks/systemic associations. Principles and Practice of Ophthalmology Clinical Practice. Philadelphia: WB Saunders; 1994.
Audo I, Vanakker OM, Smith A, et al. Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?. Invest Ophthalmol Vis Sci. 2007 Sep. 48(9):4250-6. [Medline].
Chung AK, Gauba V, Ghanchi FD. Photodynamic therapy (PDT) using verteporfin for juxtafoveal choroidal neovascularisation (CNV) in angioid streaks (AS) associated with pseudoxanthoma elasticum: 40 months results. Eye (Lond). 2006 May. 20(5):629-31. [Medline].
Clarkson JG, Altman RD. Angioid streaks. Surv Ophthalmol. 1982 Mar-Apr. 26(5):235-46. [Medline].
Coleman K, Ross MH, Mc Cabe M, Coleman R, Mooney D. Disk drusen and angioid streaks in pseudoxanthoma elasticum. Am J Ophthalmol. 1991 Aug 15. 112(2):166-70. [Medline].
Connor PJ Jr, et al. Pseudo-xanthoma elasticum and angioid streaks: a review of 106 cases. Am J Med. 1961. 30:537-43.
Engelman MW, Fliegelman MT. Pseudoxanthoma elasticum. Cutis. 1978 Jun. 21(6):837-40. [Medline].
Finger RP, Charbel Issa P, Ladewig MS, et al. Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches. Surv Ophthalmol. 2009 Mar-Apr. 54(2):272-85. [Medline].
Goodman RM, Smith EW, Paton D, Bergman RA, Siegel CL, Ottesen OE. Pseudoxanthoma Elasticum: A Clinical And Histopathological Study. Medicine (Baltimore). 1963 Sep. 42:297-334. [Medline].
Grand MG, Isserman MJ, Miller CW. Angioid streaks associated with pseudoxanthoma elasticum in a 13-year-old patient. Ophthalmology. 1987 Feb. 94(2):197-200. [Medline].
Gunther JB, Altaweel MM. Bevacizumab (Avastin) for the treatment of ocular disease. Surv Ophthalmol. 2009 May-Jun. 54(3):372-400. [Medline].
Iqbal A, Alter M, Lee SH. Pseudoxanthoma elasticum: a review of neurological complications. Ann Neurol. 1978 Jul. 4(1):18-20. [Medline].
Martinez-Hernandez A, Huffer WE. Pseudoxanthoma elasticum: dermal polyanions and the mineralization of elastic fibers. Lab Invest. 1974 Aug. 31(2):181-6. [Medline].
Sawa M, Ober MD, Freund KB, Spaide RF. Fundus autofluorescence in patients with pseudoxanthoma elasticum. Ophthalmology. 2006 May. 113(5):814-20.e2. [Medline].
Marconi B, Bobyr I, Campanati A, Molinelli E, Consales V, Brisigotti V, et al. Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment. Intractable Rare Dis Res. 2015 Aug. 4 (3):113-22. [Medline].