[Prenatal diagnosis of various hereditary blinding diseases].
The availability of more and more reliable obstetrical echographies makes now possible to screen fetuses for microphtalmies and anophtalmies. More over, by mean of linkage studies with DNA markers within a family, we can identify the women who will transmit X-linked diseases, and realize a prenatal diagnosis. This technology can be applied to the following ophthalmological diseases: the X-linked retinoschisis, the choroideremia, the ocular albinism, the Noorie disease, and recently the retinoblastoma. From now on, the use of such a technology which makes it possible to detect ophthalmological diseases in the fetuses, is posing ethical problems especially in case of diseases without any survival prognosis involvement.
Michel-Awad
A
A
Service d'Ophtalmologie, Hôpital Laennec, Paris.
Kaplan
J
J
Briard
M L
ML
Turleau
C
C
de Grouchy
J
J
Munnich
A
A
Dufier
J L
JL
Frezal
J
J
D000853:Anophthalmos / Q000175:diagnosis / Q000235:genetics; D001766:Blindness / Q000517:prevention & control; D015785:Eye Diseases, Hereditary / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008297:Male; D008850:Microphthalmos / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
Diagnostic anténatal de certaines maladies héréditaires cécitantes.