title: [Ocular manifestations associated with nephronophthisis and genetic study in three Tunisian families].
abstract: OBJECTIVE
  Nephronophthisis is a familial interstitial nephropathy with an autosome recessive mode of transmission. In some cases, it is associated with ocular manifestations such as retinitis pigmentosa in Senior-Løken syndrome. We report ocular abnormalities and genetic results in three affected Tunisian families.
  
  
  METHODS
  Twenty-two members of these three families underwent a complete ophthalmologic examination (visual acuity, slit lamp biomicroscopy, ophthalmoscopy, and retinal electrophysiology). For genetic study, all individuals were genotyped and underwent a genomic sequence.
  
  
  RESULTS
  Twenty-two subjects, nine of whom presented nephronophthisis, were included in this study. Retinitis pigmentosa was found in three cases. Our genetic study demonstrated that patients belonging to family 1 had homozygous deletions in NPHP1, all affected individuals from family 3 were linked to NPHP4 and presented a deletion in exons 2 and 3. Results are pending for patients in family 2.
  
  
  CONCLUSIONS
  Senior-Løken syndrome is a rare hereditary disease that combines familial juvenile nephronophthisis and retinitis pigmentosa. This association was described in the literature in 39%-43% of cases. In our study, it was approximately 33% of cases. The genetic study can sometimes obviate the need for renal puncture, especially when the homozygous deletion of NPHP1 gene is confirmed.
authors.affiliation: Service d'Ophtalmologie, CHU Habib Bourguiba, Sfax, Tunisie. dorra_sellami@yahoo.fr
authors.forename: D
authors.initials: D
authors.lastname: Sellami
authors.forename: K
authors.initials: K
authors.lastname: Makni
authors.forename: H
authors.initials: H
authors.lastname: Chaker
authors.forename: M
authors.initials: M
authors.lastname: Kharrat
authors.forename: N
authors.initials: N
authors.lastname: Hentati
authors.forename: K
authors.initials: K
authors.lastname: Kammoun
authors.forename: F
authors.initials: F
authors.lastname: Chabouni
authors.forename: M
authors.initials: M
authors.lastname: Ben Hamida
authors.forename: J
authors.initials: J
authors.lastname: Hachicha
authors.forename: R
authors.initials: R
authors.lastname: Salomon
authors.forename: C
authors.initials: C
authors.lastname: Antignac
authors.forename: H
authors.initials: H
authors.lastname: Ayadi
authors.forename: J
authors.initials: J
authors.lastname: Feki
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D009395:Nephritis, Interstitial / Q000150:complications* / Q000235:genetics*; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000209:etiology* / Q000235:genetics*; D014416:Tunisia