Close
New

Medscape is available in 5 Language Editions – Choose your Edition here.

 

Ophthalmologic Manifestations of Pseudoxanthoma Elasticum Differential Diagnoses

  • Author: Andrew A Dahl, MD, FACS; Chief Editor: Hampton Roy, Sr, MD  more...
 
Updated: May 09, 2016
 
 

Diagnostic Considerations

Paget disease

Angioid streaks: Pseudoxanthoma elasticum is the most common systemic disorder associated with angioid streaks. Angioid streaks are also found in patients with Ehlers-Danlos syndrome (EDS) another hereditary disorders of collagen, usually inherited in an autosomal dominant manner, characterized by joint hypermobility, skin extensibility, and tissue fragility. Other ocular findings in EDS include epicanthal folds, keratoconus, high myopia, posterior staphyloma, retinal detachment, blue sclera, and ectopia lentis. Systemic associations of EDS include thin, hyperplastic skin that heals poorly; hyperextensible joints that may predispose to recurrent falls; cardiovascular diseases, including dissecting aneurysms, spontaneous rupture of large blood vessels, and mitral valve prolapse; bleeding diatheses; diaphragmatic hernias; and diverticula of the GI and respiratory tracts. Angioid streaks can also be seen in association with Paget disease, Marfan syndrome, and sickle cell disease.

Differential Diagnoses

  • Angioid Streaks

  • Ehlers-Danlos syndrome

  • Marfan syndrome

  • Paget disease

  • Sickle Cell Disease

 
 
Contributor Information and Disclosures
Author

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.

Coauthor(s)

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.

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

Disclosure: Nothing to disclose.

Specialty Editor Board

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 Director of Charles Retina Institute; Clinical Professor, Department of Ophthalmology, University of Tennessee College of Medicine

Steve Charles, MD is a member of the following medical societies: American Academy of Ophthalmology, American Society of Retina Specialists, Macula Society, Retina Society, Club Jules Gonin

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

Chief Editor

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.

Additional Contributors

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.

References
  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. [Medline].

  2. 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].

  3. 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].

  4. 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].

  5. 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].

  6. 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].

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

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

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

  10. 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].

  11. 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].

  12. Clarkson JG, Altman RD. Angioid streaks. Surv Ophthalmol. 1982 Mar-Apr. 26(5):235-46. [Medline].

  13. 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].

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

  15. Engelman MW, Fliegelman MT. Pseudoxanthoma elasticum. Cutis. 1978 Jun. 21(6):837-40. [Medline].

  16. 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].

  17. 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].

  18. 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].

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

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

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

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

  23. 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].

Previous
Next
 
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.