Ophthalmologic Manifestations of Pseudoxanthoma Elasticum Differential Diagnoses

1. 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. [QxMD MEDLINE Link].

2. Pfau M, Möller PT, Künzel SH, von der Emde L, Lindner M, Thiele S, et al. Type 1 Choroidal Neovascularization Is Associated with Reduced Localized Progression of Atrophy in Age-Related Macular Degeneration. Ophthalmol Retina. 2020 Mar. 4 (3):238-248. [QxMD MEDLINE Link].

3. Hess K, Gliem M, Birtel J, Müller P, Hendig D, Andrews C, et al. IMPAIRED DARK ADAPTATION ASSOCIATED WITH A DISEASED BRUCH MEMBRANE IN PSEUDOXANTHOMA ELASTICUM. Retina. 2020 Oct. 40 (10):1988-1995. [QxMD MEDLINE Link].

4. 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. [QxMD MEDLINE Link].

5. 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. [QxMD MEDLINE Link].

6. 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. [QxMD MEDLINE Link].

7. 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. [QxMD MEDLINE Link].

8. 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. [QxMD MEDLINE Link].

9. Schoenberger SD, Agarwal A. Geographic chorioretinal atrophy in pseudoxanthoma elasticum. Am J Ophthalmol. 2013 Oct. 156(4):715-23. [QxMD MEDLINE Link].

10. Agarwal A, Patel P, Adkins T, Gass JD. Spectrum of pattern dystrophy in pseudoxanthoma elasticum. Arch Ophthalmol. 2005 Jul. 123(7):923-8. [QxMD MEDLINE Link].

11. Albert DM, et al. Pseudoxanthoma elasticum (PXE)-angioid streaks/systemic associations. Principles and Practice of Ophthalmology Clinical Practice. Philadelphia: WB Saunders; 1994.

12. 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. [QxMD MEDLINE Link].

13. 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. [QxMD MEDLINE Link].

14. Clarkson JG, Altman RD. Angioid streaks. Surv Ophthalmol. 1982 Mar-Apr. 26(5):235-46. [QxMD MEDLINE Link].

15. 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. [QxMD MEDLINE Link].

16. Connor PJ Jr, et al. Pseudo-xanthoma elasticum and angioid streaks: a review of 106 cases. Am J Med. 1961. 30:537-43.

17. Engelman MW, Fliegelman MT. Pseudoxanthoma elasticum. Cutis. 1978 Jun. 21(6):837-40. [QxMD MEDLINE Link].

18. 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. [QxMD MEDLINE Link].

19. 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. [QxMD MEDLINE Link].

20. 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. [QxMD MEDLINE Link].

21. Gunther JB, Altaweel MM. Bevacizumab (Avastin) for the treatment of ocular disease. Surv Ophthalmol. 2009 May-Jun. 54(3):372-400. [QxMD MEDLINE Link].

22. Iqbal A, Alter M, Lee SH. Pseudoxanthoma elasticum: a review of neurological complications. Ann Neurol. 1978 Jul. 4(1):18-20. [QxMD MEDLINE Link].

23. Martinez-Hernandez A, Huffer WE. Pseudoxanthoma elasticum: dermal polyanions and the mineralization of elastic fibers. Lab Invest. 1974 Aug. 31(2):181-6. [QxMD MEDLINE Link].

24. Sawa M, Ober MD, Freund KB, Spaide RF. Fundus autofluorescence in patients with pseudoxanthoma elasticum. Ophthalmology. 2006 May. 113(5):814-20.e2. [QxMD MEDLINE Link].

25. 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. [QxMD MEDLINE Link].

26. Hess K, Raming K, Charbel Issa P, Herrmann P, Holz FG, Pfau M. Inner retinal degeneration associated with optic nerve head drusen in pseudoxanthoma elasticum. Br J Ophthalmol. 2021 Oct 20. [QxMD MEDLINE Link].

27. Risseeuw S, Ossewaarde-van Norel J, Klaver CCW, Colijn JM, Imhof SM, van Leeuwen R. VISUAL ACUITY IN PSEUDOXANTHOMA ELASTICUM. Retina. 2019 Aug. 39 (8):1580-1587. [QxMD MEDLINE Link].

Andrew A Dahl, MD, FACS Assistant Professor of Surgery (Ophthalmology), New York College of Medicine (NYCOM); Director of Residency Ophthalmology Training, The Institute for Family Health and Mid-Hudson Family Practice Residency Program; Staff Ophthalmologist, Telluride Medical Center

Andrew A Dahl, MD, FACS is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, American Intraocular Lens Society, American Medical Association, American Society of Cataract and Refractive Surgery, Contact Lens Association of Ophthalmologists, Medical Society of the State of New York, New York State Ophthalmological Society, Outpatient Ophthalmic Surgery Society

Disclosure: Nothing to disclose.

Diego Calonje, MD Consulting Staff, Department of Ophthalmology, Private Practice

Disclosure: Nothing to disclose.

Sherif M El-Harazi, MD, MPH Private Practice in Ophthalmology

Sherif M El-Harazi, MD, MPH is a member of the following medical societies: American Academy of Ophthalmology, American Medical Association, American Society of Cataract and Refractive Surgery, International Society of Refractive Surgery

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Steve Charles, MD Founder and CEO of Charles Retina Institute; Clinical Professor, Department of Ophthalmology, University of Tennessee College of Medicine

Disclosure: Received royalty and consulting fees for: Alcon Laboratories.

Hampton Roy, Sr, MD † Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences

Hampton Roy, Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

V Al Pakalnis, MD, PhD Professor of Ophthalmology, University of South Carolina School of Medicine; Chief of Ophthalmology, Dorn Veterans Affairs Medical Center

V Al Pakalnis, MD, PhD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, South Carolina Medical Association

Disclosure: Nothing to disclose.

• Print this section
• Print the entire contents of
• Print the entire contents of article