Ophthalmologic Manifestations of Pseudoxanthoma Elasticum Workup

  • Author: Andrew A Dahl, MD; Chief Editor: Hampton Roy Sr, MD   more...
 
Updated: Apr 30, 2012
 

Laboratory Studies

  • Complete blood cell (CBC) count
  • Serum electrolytes
  • Calcium and phosphorus
  • Blood glucose
Next

Imaging Studies

Spectral domain optical coherence tomography (SD-OCT) can identify angioid streaks in the Bruch membrane.[4]

Previous
Next

Procedures

  • Skin biopsy
Previous
Next

Histologic Findings

Histopathologic studies from skin biopsy show characteristic changes consisting of fragmented elastic fibers, which may be calcified in the deeper layers of the dermis.

Previous
Proceed to Treatment & Management
 
 
Contributor Information and Disclosures
Author

Andrew A Dahl, MD  Director of Ophthalmology Teaching, Mid-Hudson Family Practice Institute, The Institute for Family Health; Assistant Professor of Surgery (Ophthalmology), New York College of Medicine

Andrew A Dahl, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Ophthalmology, American College of Surgeons, American Medical Association, American Society of Cataract and Refractive Surgery, and Wilderness Medical Society

Disclosure: Nothing to disclose.

Coauthor(s)

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

Disclosure: Nothing to disclose.

Sherif M El-Harazi, MD, MPH  Consulting Staff, Department of Ophthalmology, Sherif El-Harazi, MD

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, and International Society of Refractive Surgery

Disclosure: Nothing to disclose.

Specialty Editor Board

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, and South Carolina Medical Association

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: Medscape Salary Employment

Steve Charles, MD  Director of Charles Retina Institute; Clinical Professor, Department of Ophthalmology, University of Tennessee College of Medicine; Adjunct Professor of Ophthalmology, Columbia College of Physicians and Surgeons; Clinical Professor Ophthalmology, Chinese University of Hong Kong

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

Disclosure: Alcon Laboratories Consulting fee Consulting; OptiMedica Ownership interest Other; Topcon Medical Lasers Consulting fee Consulting

Lance L Brown, OD, MD  Ophthalmologist, Affiliated With Freeman Hospital and St John's Hospital, Regional Eye Center, Joplin, Missouri

Disclosure: Nothing to disclose.

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, and Pan-American Association of Ophthalmology

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. Oct 15 1993;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. Jun 2000;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. Oct 1997;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. Dec 2009;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. Apr 2008;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. Oct 2009;148(4):584-590.e2. [Medline].

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

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

  9. Audo I, Vanakker OM, Smith A, et al. Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?. Invest Ophthalmol Vis Sci. Sep 2007;48(9):4250-6. [Medline].

  10. 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). May 2006;20(5):629-31. [Medline].

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

  12. Coleman K, Ross MH, Mc Cabe M, Coleman R, Mooney D. Disk drusen and angioid streaks in pseudoxanthoma elasticum. Am J Ophthalmol. Aug 15 1991;112(2):166-70. [Medline].

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

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

  15. Finger RP, Charbel Issa P, Ladewig MS, et al. Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches. Surv Ophthalmol. Mar-Apr 2009;54(2):272-85. [Medline].

  16. Goodman RM, Smith EW, Paton D, Bergman RA, Siegel CL, Ottesen OE. Pseudoxanthoma Elasticum: A Clinical And Histopathological Study. Medicine (Baltimore). Sep 1963;42:297-334. [Medline].

  17. Grand MG, Isserman MJ, Miller CW. Angioid streaks associated with pseudoxanthoma elasticum in a 13-year-old patient. Ophthalmology. Feb 1987;94(2):197-200. [Medline].

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

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

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

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

 
Previous
Next
 
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.