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.

Anophthalmos↗

PubMedDate not supplied

[Associated forms of hereditary chorioretinal degeneration].

A retrospective study of 324 cases of chorioretinal heredodegeneration of all kinds shows an associated pathology in 44% of cases. These associated anomalies point out the need of a complete physical examination, a familial inquest keeping in mind genetic counseling. They are a good model for a high resolution cytogenetic study to find microdeletions which can allow to precise the genome's map.

Choroid Diseases↗

PubMedDate not supplied

[Heterogeneity of carnitine palmitoyltransferase deficiencies. Deficiency of CPT I in the hepatic form and CPT II in the muscular form].

Carnitine Palmitoyl Transferase (CPT) deficiencies are found in 2 different clinical forms: muscular and hepatic. The study of fibroblasts of 2 patients corresponding to each of these situations showed that these phenotypes are associated with different abnormalities of CPT, CPT I in the hepatic type and CPT II in the muscular type. The functional consequences of both abnormalities are different. In the hepatic type, CPT I deficiency induces a lack of long chain fatty acid (LCFA) oxidation in fibroblasts as well as, probably, in the patient's liver. In the muscular type, CPT II deficiency has no functional consequences in the fibroblast, contrary to what is observed in the patient's muscle. It is postulated that control of the mitochondrial LCFA oxidation in the liver and in the fibroblasts depends on CPT I, while it depends on CPT II in the muscle.

Acyltransferases↗

PubMedDate not supplied

[Jervell-Lange-Nielsen syndrome. 13 year-course of 2 familial cases].

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Adolescent↗