gms | German Medical Science

22nd Annual Meeting of the German Retina Society

German Retina Society

26.06. - 27.06.2009, Berlin

Incontinentia pigmenti: 11 patients with ocular involvement

Meeting Abstract

  • Miriam Doblhofer - Charité University Eye Clinic of Berlin, Campus Benjamin Franklin
  • G. Willerding - Charité University Eye Clinic of Berlin, Campus Benjamin Franklin
  • D. Ottenberg - Charité University Eye Clinic of Berlin, Campus Benjamin Franklin
  • N. E. Bechrakis - University Eye Clinic of Innsbruck
  • C. Jandeck - Artemis Laser Clinic, Frankfurt / Main
  • M.H. Foerster - Charité University Eye Clinic of Berlin, Campus Benjamin Franklin

German Retina Society. 22nd Annual Meeting of the German Retina Society. Berlin, 26.-27.06.2009. Düsseldorf: German Medical Science GMS Publishing House; 2009. DocRG2009-35

doi: 10.3205/09rg36, urn:nbn:de:0183-09rg366

This is the translated version of the article.
The original version can be found at: http://www.egms.de/de/meetings/rg2009/09rg36.shtml

Published: June 29, 2009

© 2009 Doblhofer et al.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by-nc-nd/3.0/deed.en). You are free: to Share – to copy, distribute and transmit the work, provided the original author and source are credited.


Outline

Text

Background: Incontinentia pigmenti (IP or Bloch-Sulzberger-Syndrom) is a rare x linked dominant multisystem disorder involving the eye. Dermatological findings are most often the first observed, a skin biopsy can lead to the diagnosis and molecular genetic examination is possible. Up to 77% of the patients show ocular involvement with retinal vascular occlusions and pigment epithelial changes with risk of visual loss.

Method: We report on 11 female patients, who presented to our clinic between 1996 and 2009. In 7 eyes (4 patients) treatment was necessary: 4 obtained lasercoagulation, 3 a vitrectomy and one a lensectomy. In 7 patients Bloch-Sulzberger-Syndrom was diagnosed but no ocular treatment was necessary.

Result: Three patients developed retinal detachment, 2 of them after Vitrectomy. Eyes which obtained laser coagulation were stable afterwards without any further complications. In 4 patients strabismus was present, visual testing was only possible in one patient during follow up, due to short follow up periods or mental retardation. 5 patients had a positive family history for IP.

Conclusion: Incontinentia pigmenti is most often diagnosed by dermatologist or neurologist due to the bullous and desquamating skin lesions or cerebral strokes. Ocular complications can be severe. Differential diagnoses should include ROP, Norrie’s disease and familiar exsudative vitreoretinopathy.