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F Munier

Publications and source records attributed to F Munier.

At least 37 records · Page 2Linked to original sources
PubMed1998

[Diagnostic imaging of intraocular lesions in the child].

BACKGROUND: A certain diagnosis, as soon as possible, is indispensable in children with intraocular lesions, the presence of retinoblastoma always being a possibility. PATIENTS: From our casuistic of 418 children since 1970 and from the literature, we currently adopt the following attitude. Where the media are clear, a drawing and fundus photographs are made. Echography is performed in all cases. Ultrasound biomicroscopic examination is carried out in all lesions where involvement of the anterior segment is suspected. RESULTS: Where echography shows no calcifications, computed tomography (CT) is indicated. CT may also enable a possible lesion extension, particularly to the optic nerve, to be studied. CONCLUSIONS: Magnetic resonance imaging (RMI) is the procedure of choice for evaluating secondary retinal detachment, massive extension of retinoblastoma and for detecting any early involvement of the pineal gland (pinealoblastoma), or any other associated lesion. In case of unilateral unifocal sporadic retinoblastoma, however, no CT or MRI is performed, except where there is a suspected extension into the optic nerve or the orbit. Echography remains the most economical, rapid and safest means of diagnosis even in difficult cases.

Brain Neoplasms↗
PubMed1998

[Mutational screening of peripherin/RDS genes, rhodopsin and ROM-1 in 69 index cases with retinitis pigmentosa and other retinal dystrophies].

PURPOSE: Phenotypic, genetic and molecular characterization of 69 index patients with retinitis pigmentosa (RP) and various inherited retinal diseases. PATIENTS AND METHOD: patients went through complete ocular examination and blood samples were drawn for mutational screening of three candidate genes: rhodopsin (RHO), peripherin/RDS, and ROM-1. RESULTS: the most frequent type of RP among our population was the autosomal dominant (43.6%). Three RHO mutations were found among the RP patients. A RDS mutation was detected in three unrelated families segregating dominant macular dystrophy. DISCUSSION AND CONCLUSIONS: 18% of the autosomal dominant RP patients presented a RHO mutation; RDS R172W mutation was present in 25% of the dominant macular dystrophies.

Adult↗
PubMed1997

[Ocular phenotype in a child with chondrodysplasia punctata, rhizomelic form].

Chondrodysplasia calcificans punctata (CDP) is a rare congenital syndrome characterized by calcific stippling of the hyaline cartilage. CDP is classified into 4 types: the autosomal dominant Conradi-Hünermann type, the autosomal recessive rhizomelic type, the X-linked dominant form and the X-linked recessive form. We present a child affected with a rhizomelic CDP born from consanguinous parents. The ocular phenotype consisted of microphakia associated with a progressive bilateral "cataracta cortico-zonularis suturata". At 11 years of age, a phacoemulsification and intraocular lens implantation was performed in the left eye.

Cataract↗
PubMed1996

Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21.

OBJECTIVE: To identify the chromosomal location of the gene involved in the pathogenesis of autosomal dominant radial drusen (malattia leventinese). PATIENTS: Eighty-six members of four families affected with radial drusen; one family of American origin and three families of Swiss origin. METHODS: Family members were clinically examined for the presence of radial drusen. Affected patients and potentially informative spouses were genotyped with short tandem repeat polymorphisms distributed across the autosomal genome. The clinical and genotypic data were subjected to linkage analysis. RESULTS: Fifty-six patients were found to be clinically affected. Significant linkage was observed between the disease phenotype and markers known to lie on the short arm of chromosome 2. The maximum two-point lod score (Zmax) observed for all four families combined was 10.5 and was obtained with marker D2S378. Multipoint analysis yielded a Zmax of 12, centered on marker D2S378. The lod-1 confidence interval was 8 cM, while the disease interval defined by observed recombinants was 14 cM. CONCLUSIONS: The gene responsible for autosomal dominant radial drusen has been mapped to the short arm of chromosome 2. This is an important step toward actually isolating the disease-causing gene. In addition, this information can be used to evaluate other familial drusen phenotypes such as Doyne's macular dystrophy for a possible allelic relationship.

Adolescent↗
PubMed1996

[Medullo-epithelioma: presentation of 3 cases].

Three cases of medullo-epithelioma are reported from a study of almost 350 cases of retinoblastomas or pseudo-retinoblastomas. The cases concern one female and two male children of 1,5, 2,5 and 6 years of age respectively at the time of diagnosis. Suspected of carrying retinoblastoma, two of the children were enucleated. Histological examination revealed the presence of a benign medullo-epithelioma in one case and a malignant condition in the other. The third case was treated by brachytherapy which led to total destruction of the tumor. A new iridian focus opposite the original tumor appeared one year later and was in turn destroyed by cobalt applicator.

Brachytherapy↗
PubMed1995

[New retinal tumors in hereditary retinoblastoma].

364 eyes from 230 patients with retinoblastoma diagnosed and treated at the Lausanne University Eye Clinic from 1964 to June 1994 were retrospectively analyzed with respect to the risk of developing new tumour foci following initial therapy. Among them, 119 eyes from 90 hereditary affected patients were included, consisting of 86 bilateral cases and 4 unilateral cases. The mean follow-up was 65.5 months (5.5 years). A total of 46 new retinal tumours were detected in 21 patients. These new tumours had a size less than 1 disc diameter in 75% and were peripherally located in 78% of the cases, with a statistically significant preference for the horizontal meridians. No new tumours developed in the macular area. 50% appeared in children younger than 1 year and 80% before 2 years of age. 50% of the eyes with recurrences developed new tumours before 7.5 months following diagnosis, and 75% before 14 months. All patients showing recurrences did so before the age of 4.5.

Adolescent↗
PubMed1995

[Clinical applications of molecular diagnosis of retinoblastoma ain 15 families].

PURPOSE: In 40% retinoblastoma (Rb) results from a hereditary mutation of the Rb susceptibility gene (RB1). In this study, we tested the usefulness of intragenic DNA analysis for ophthalmologic follow-up in affected families. METHODS: Molecular analysis was performed on 103 DNA samples of 15 Rb families. We used 7 intragenic polymorphic markers and one within the ESD gene for mutation linkage analysis. FINDINGS: DNA analysis was informative in 88% of relatives at risk of developing Rb. Among them, the presence of a mutated RB1 allele was excluded in 46%, while 29% were unaffected carriers and 25% had inherited the Rb predisposition. CONCLUSION: In the majority of familial Rb, the DNA analysis allows the identification of children carrying a RB1 mutation and who will need a close ophthalmologic follow-up under general anesthesia. When the mutated gene is absent, ophthalmological examination under narcosis is unnecessary. Finally, identification of asymptomatic carriers improve the accuracy of genetic counselling.

Adult↗
PubMed1995

[Familial uveal melanoma].

BACKGROUND: Familial uveal melanoma are rare and a few number of cases has been described in literature until now. An autosomal dominant inheritance was proposed. MATERIAL AND METHOD: From the 2169 patients examined and/or treated in the Jules Gonin Hospital for an uveal melanoma from 1969, we identified 11 patients from 9 families in which at least two members were affected. We compared the clinical data of the familial melanoma with those of the sporadic cases of our collective with the Kruskal-Wallis Tests. The following parameters were studied: age and sex of patients, largest and smallest tumor diameter, height and volume of tumor, distance between tumor and optic nerve and macula, distance of tumor to the equator. Age and sex were also compared with literature. RESULTS: Among the 11 patients, nine were treated with an accelerated proton beam, one with Cobalt60 applicator and one has been enucleated. The median age was 58 years among the probands and 54.6 years among the sporadic cases of the collective. Sex ratio is superposable between both groups: male 45.5%, female 54.5% among the probands and male 48.6%, female 51.4% among the sporadic cases. The comparison between both groups with the Kruskal-Wallis Tests did not show any significant statistical difference. CONCLUSION: An uveal melanoma occurring at least in two members of the same family is not due to chance alone. Genetic factors associated to external factors are probably responsable.

Adolescent↗
PubMed1995

[Regressive bilateral retinoblastoma. Clinical and genetic study. Apropos of a case].

The authors report the observation of a 35-year-old patient, mother of 5 children 4 of whom are carriers of bilateral retinoblastomas. Two of these children presented lesions suggestive of retinoma retinoblastoma association. The patient had peripheral retinal lesions evoking the diagnosis of regressive bilateral retinoblastoma. At present, the term retinoma or retinocytoma seems to be more adequate. The genetic study of this family was done with D esterase and DNA molecular biology.

Adult↗
PubMed1994

[Unusual presentation of retinoblastoma].

Among the 185 retinoblastoma patients seen at the Lausanne Retinoblastoma Clinic from 1963-1993, 24 (14%) first presented with another sign than classical leukocoria (60.5%) or strabismus (21.5%). Most of these atypical signs were related to inflammatory complications of unrecognized retinoblastoma; they consisted of low vision (1.5%), hypopyon (2%), ocular redness and pain (1.5%), ocular redness and buphtalmia (1.5%), as well as photophobia and headaches (1.5%). The presence of unexplained chronic ocular signs during childhood should always raise the possibility of an underlying retinal malignancy.

Child↗
PubMed1993

Retinoblastoma. Unusual warning and clinical signs.

Three clinical cases have been chosen to illustrate the pitfalls that can be encountered when warning signs other than leukokoria or strabismus indicate possible retinoblastoma. The first case, a four-year-old boy, was admitted to hospital after an accident, presenting uveitis, glaucoma and a subluxated lens. He was suffering from unilateral retinoblastoma, already exteriorized and the cause of death some months later. The second case, and 11-month-old female child was seen on fundus examination to present a yellowish elevated calcified mass which turned out to be tuberous sclerosis. The third patient, a 43-year-old male, father of two children suffering from retinoblastoma, was found on routine examination to be carrying a partially-calcified retinal tumour. Subsequent haemorrhaging rendered enucleation necessary and microscopic examination confirmed the diagnosis of retinoma. The diagnosis of retinoblastoma should always be kept in mind whenever an intraocular mass is revealed or where there are unexplained atypical ocular signs.

Adolescent↗
PubMed1992

Paternal selection favoring mutant alleles of the retinoblastoma susceptibility gene.

Penetrance and segregation rates of mutant Rb-1 alleles were assessed in all 51 members of eight kindreds with hereditary retinoblastoma by concomitant ophthalmologic examination and determination of seven intragenic restriction fragment length polymorphisms (RFLPs). Penetrance was in the range reported in the literature except for one family in which it was only 42.8%. However, the odds of transmitting a mutant Rb-1 allele from one generation to the next were 25:9 in this population, much above the Mendelian 1:1 ratio (P less than 0.025). This preferential transmission was discovered through the use of molecular information. Further analysis revealed that this distortion was due to preferential inheritance among children of male carriers (18:4, P less than 0.005). No difference from a 1:1 segregation ratio could be detected among the children of female carriers (7:5). These findings were consistent with a review of relevant data in the literature.

Alleles↗
PubMed1992

[Retinoma and phtisis bulbi: benign expression of retinoblastoma].

Systematic investigation of families of children suffering from retinoblastoma reveals more and more cases of retinoma or phthisis bulbi, cases which used to be called "spontaneous regression". Between 1975 and 1991, we have in this way discovered 11 cases (7%) certain to be carrying retinoma or phthisis bulbi, and a further 5 cases where the same diagnosis is highly probable. Of the 11 certain cases, 5 are unilateral, 6 bilateral, and 8 present family history of the disease. Of the total number of 17 eyes, 16 present retinoma, 1 phthisis bulbi. On clinical examination, all (100%) showed characteristic lesions in the form of greyish homogenous elevated masses in the vitreous cavity. 11 presented calcifications (69%) and in 14 disturbance of the pigment epithelium occurred (87%). The average follow-up is 4 years. Of the 11 patients, 8 are of procreating age and have up to now 25 offsprings. Amongst these, 15 have retinoblastoma (60%), 2 retinoma and phthisis bulbi (8%). All except one of the retinoblastoma cases are bilateral. This study would appear to show that retinoma occurs with a higher frequency than that which is usually given. The figures show clearly that retinoblastoma and retinoma derive from the same genetic disturbances, possibly at different times during cell maturation, and consequently require the same investigation and follow-up.

Adult↗
PubMed1992

[Loss of ganglion cells in the retina secondary to vincristine therapy].

We report the case of a 25-year-old black female from Zaire with AIDS diagnosed 2 years earlier. Nine months before her death, she was treated for a disseminated Kaposi sarcoma with vincristin, adryamycin and bleomycin. At that time, visual acuity was normal and ophthalmologic examination was unremarkable except for the presence of bilateral Drusen and a cotton wool spot OS. Three months after the onset of chemotherapy, the patient complained of progressive visual field constriction, which progressed to blindness within a 4 month period. Five months after the onset of the tri-therapy a bilateral CMV retinitis developed, which was successfully treated by intravitreous injections of ganciclovir. This therapy was stopped as soon as blindness was established, with subsequent massive bilateral recurrence of the CMV retinitis. Histologic examination showed complete atrophy of the retinal ganglion cells and areas of CMV retinitis. The optic nerve was demyelinated and exhibited astrocytic gliosis. Immunohistochemistry confirmed the presence of CMV in infected retina and revealed the absence in the optic nerve of the class III beta-tubulin isotype and of the 200 kd neurofilament subunit. In contrast, oculomotor nerves appeared intact. The presence of HIV in the eye and in the optic nerve was excluded using PCR technique. The retinal ganglion cell loss and optic nerve atrophy appeared to be purely degenerative in nature, since there was no evidence of vascular occlusion, inflammation or retrobulbar compressive process. We therefore conclude that blindness was caused by vincristine therapy. The patient actually received 22 mg of vincristin intravenously in 11 courses over 7 months, although discontinuation was recommended by us after 5 months.(ABSTRACT TRUNCATED AT 250 WORDS)

Acquired Immunodeficiency Syndrome↗