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Biomedical subjects

J Francois

Publications and source records attributed to J Francois.

At least 37 records · Page 2Linked to original sources

Electroretinographical study of the hypoplasia of the optic nerve.

Out of 22 sporadic cases of hypoplasia of the optic nerve, 16 were bilateral and 6 unilateral. The sex distribution was equal in the bilateral cases, while all our unilateral cases were females. Visual impariment was severe in all our cases. There was total blindness or only light perception. The pupillary reflexes were absent or very slow. Only one case had a rather good visual acuity (1/10) with a constricted visual field. In addition to the typical aspect of hypoplasia of the optic disc, some cases showed an obvious or suspected retinal degereration, such as a marked choroidal pattern with pigmentary dystrophy of the posterior pole. The ERG was normal in most cases, and showed no modification with increasing age. No supranormal recordings were obtained. Out of 36 eyes, 12 had a subnormal response. Seven showed an involvement only of the scotopic response, one only of the photopic response and four of both responses. The reduction of the ERG amplitude was rather mild in most cases. The ERG was never extinguished. The temporal characteristics were normal in all our cases with two exceptions.

Adolescent↗

[Hereditary optic atrophies].

Congenital or infantile autosomal recessive optic atrophy is rare. The autosomal recessive syndrome of optic atrophy associated with diabetes is less rare. Dominant juvenile optic atrophy occurs frequently. Behr's heredo-familial optic atrophy, with its neurological mainfestations and its recessive autosomal inheritance, is rare. Sex-linked optic atrophy is exceptional. Leber's optic neuritis occurs frequently. Its heredity is apparently sex-linked, but no classical mode of transmission can be applied. Cytoplasmic heredity is the most probable.

Diabetes Complications↗

Genetic aspects of childhood tumours.

Present concepts on the etiology of childhood tumours are reviewed. The difference in clinical manifestations of the hereditary and nonhereditary types are illustrated with data on retinoblastoma and on nephroblastoma. Notwithstanding these differences it is most likely that the fundamental etiologic process is the same in both and that it consists in successive mutational events. The possible consequences of the association of retinoblastoma with a deletion of chromosome 13 in some cases are discussed. Several explanations for the association of Wilms' tumour and aniridia are also discussed.

Abnormalities, Multiple↗

[Hemorrhagic macular choroidopathy in young subjects].

The haemorrhagic macular choroidopathy is a characteristic and rather frequent disease, which is seen in young subjects. We observed it in 23 patients, aged between 12 and 51 years. The disease resembles the presumed histoplasmin choroiditis, described in the American literature. In our cases, histoplasmosis can nevertheless be excluded and in the American cases it is not proven. In fact, the etiology is still unknown, but in 13 of our cases the origin may have been a disseminated choroiditis.

Adult↗

Photocoagulation in diabetic retinopathy: focal treatment or partial retinal ablation?

Diabetic retinopathies treated by two different techniques were followed photographically and fluoro-angiographically. With the argon laser we treated the fluoro-angiographical lesions (210 eyes, follow-up 6 to 29 months) and with the xenon arc we made a barrage around the posterior pole without treating the lesions specifically (54 eyes, follow-up 12 to 36 months). In fact, we compared two different techniques and not two types of photocoagulators. After reviewing our results we may conclude that widespread coagulation (indirect method) is better than the topical treatment alone, but the combination of both techniques is the most suitable method.

Argon↗

[Difficulties in genetic counseling in phakomatosis].

It is often difficult to establish a valid pedigree in a family, a member of which shows one or another phakomatosis. It is indispensable to examine all the members of the family in order to detect the "formes frustes" or the atypical and abortive forms, which are frequent, and in order to establish a genetic prognosis and to give a genetic counseling, taking the penetrance into account.

Angiomatosis↗