Article
Incontinentia pigmenti: 11 patients with ocular involvement
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Published: | June 29, 2009 |
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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.