[Ocular manifestations associated with nephronophthisis and genetic study in three Tunisian families].
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.
Sellami
D
D
Service d'Ophtalmologie, CHU Habib Bourguiba, Sfax, Tunisie. dorra_sellami@yahoo.fr
Makni
K
K
Chaker
H
H
Kharrat
M
M
Hentati
N
N
Kammoun
K
K
Chabouni
F
F
Ben Hamida
M
M
Hachicha
J
J
Salomon
R
R
Antignac
C
C
Ayadi
H
H
Feki
J
J
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