title: Ophthalmological findings in series of incontinentia pigmenti patients from Serbia.
abstract: BACKGROUND
  Incontinentia pigmenti (IP) is a rare complex X-linked genodermatosis in which skin changes are combined with anomalies of other organs. Mutations of the NEMO gene localized on chromosome Xq28 are responsible for IP. Clinical manifestations of IP according to evolution and prognosis can be considered as skin changes and dental, eye and central nervous system changes.
  
  
  OBJECTIVE
  The aim of our study was to investigate type and frequency of ocular features in Serbian population.
  
  
  METHODS
  We investigated the total of 9 families with 22 subjects, 20 females and 2 males, at the Institute of Dermatovenerology, Clinical Centre of Serbia, in the period from 1989 to 2009. Our subjects were diagnosed clinically by a dermatologist and the diagnosis confirmed by cutaneous histopathology and ultrastructural analysis. The pedigrees, karyotype analyses, routine laboratory findings, additional specialized clinical examinations were done for all subjects.
  
  
  RESULTS
  Among 22 IP patients from our study, different ophthalmological anomalies were observed in 16% of subjects. In female subjects, all of them with clinical characteristics of IP, we observed the following anomalies: retinal detachment, microphthalmia, cataract, strabismus and nystagmus.
  
  
  CONCLUSIONS
  Compared to available literature data, our percentage of IP patients with anomalies was lower. It may be due to differences in examined populations or due to the fact that the patients in our study were firstly admitted to the Institute of Dermatology. Ophthalmological findings may be often considered as very severe anomalies in IP. It is very important to detect IP as early as possible, medically help and monitor these patients.
authors.affiliation: Institute of Dermatology Clinical Centre of Serbia Deligradska 34, 11000 Belgrade, Serbia.
authors.forename: Snezana
authors.initials: S
authors.lastname: Minić
authors.forename: Gerd E K
authors.initials: GE
authors.lastname: Novotny
authors.forename: Ivan
authors.initials: I
authors.lastname: Stefanović
authors.forename: Miljana
authors.initials: M
authors.lastname: Obradović
authors.forename: Dusan
authors.initials: D
authors.lastname: Trpinac
mesh_terms: D000328:Adult; D005128:Eye Diseases / Q000150:complications* / Q000175:diagnosis; D005260:Female; D006801:Humans; D007184:Incontinentia Pigmenti / Q000150:complications* / Q000235:genetics; D007223:Infant; D008297:Male; D008875:Middle Aged; D010375:Pedigree