Biomedical subjects
Publications and source records attributed to J C Hache.
By using the single strand conformational analysis to search for point mutations in the choroideremia gene, we have identified an intronic polymorphism within the intron 2 of the CHM gene. We have studied the frequency of this polymorphism in the population from South of France.
PURPOSE: We tried to better characterize non organic ocular disorders in children and adolescents: particularly clinical, perimetric and electrophysiological features. METHODS: We performed a prospective study in 25 cases during a period of 16 months. RESULTS: Non organic ocular disorders were seen among young girls between 9 and 11 years, mostly with bilateral, symmetrical and rapid visual loss. The symptoms were variable in time and responded favorably to suggestion. The ocular examination was normal. Visual field was abnormal in 52% of cases and very often showed a spiral (or snail) picture or a tubular constriction. 7' pattern visual evoked potentials were present in 88% of cases. The acuity was 20/20 in 92% of cases after the consultation and 100% later. CONCLUSION: The ophthalmic and electrophysiologic examination confirmed our diagnosis and eliminated more severe pathology.
PURPOSE: Type II measangiocapillary glomerulonephritis is related to dense deposits within the glomerular basal membrane and the basal membrane of the pigment epithelium (Bruch's membrane). Being a vasculitis, an angiographic study by indocyanine green (ICG) could possibly enlarge the semiologic features of this disease. METHODS: The indocyanine green angiographic changes in 3 patients with predialitic renal failure due to type II measangiocapillary glomerulonephritis (MCGN II) (dense deposit disease) are reported. A complete ophthalmologic examination, electroretinography, electro-oculography, fluorescein and indocyanine green angiography (ICG) were performed for each patient. RESULTS: Abnormal hyperfluorescent dots were seen on the same part of the fundus on both fluorescein and ICG angiography, though these locations were different for each of the three patients. These results seem to link the deposits to vascular changes within the choriocapillaris, which opposes them to drusen encountered in age related macular degeneration (ARMD). It appears that the choriocapillary lesions could be similar to the glomerular disease. CONCLUSION: Beyond the diagnostic challenges related to the nephrologic disease, it is known that subretinal neovascularization occurs in some cases of MCGN II, although the pathophysiologic mechanism of the deposits is probably not the same as in ARMD. Therefore, ICG angiography should be performed when MCGN II is first known, serving as an initial examination for further follow-up.
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The gene involved in juvenile retinoschisis (RS) has previously been localized, by genetic linkage analyses, to Xp22.1-p22.2, between DXS274 and DXS43/DXS207; it is closely linked to the latter markers. From our recent data, this interval represents a genetic distance of approximately 10 cM. In the present study, we have studied 14 French families with X-linked juvenile RS by using four CA polymorphisms that are closely linked to the RS locus and that have recently been included in an Xp22.1-p22.2 high-resolution map. Complete cosegregation with the disease locus was observed for three of them, DXS207, DXS418, and DXS999, which further confirms the locus homogeneity for RS and the close linkage to this region. One recombinant was found with the most proximal marker, AFM291wf5, thereby defining this marker as the new proximal boundary of the candidate region for RS. Under the assumption that DXS207 and DXS43 constitute the distal boundary, the present study further reduces the region containing the disease gene to a interval of 3-4 cM. The results reported here should facilitate the eventual cloning of the RS gene.
The cranio-mandibular syndrome (CMS) is often secondary to an cranio-facial asymmetry (CFA); it associate a painful masticatory dysfunction syndrome with functional and aching clinical signs in relation with a functional torticollis required for oculo-labyrinthal equilibration maintenance. Our anatomical and functional MRI protocol uses tridimensional study of semi-circular canals (SCC) up relation to the medial cerebral axis (MCA), and permit to measure precisely these CFA and propose, with a multispecialist approach, an adapted treatment of the SCM. Application of MRI to SCC asymmetry looks to its future use for spatial intracranial referencial of cerebral structures.
In cooperation with the C.H.U.-Lille (Eye Department) we set up an interregional and european project. We explain the possibilities and difficulties of remote diagnosis. The aim is to build up a network between different ophthalmological centers and so to give access to different centers of expertise to have a faster and more reliable diagnosis for the benefit of the patient.
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A 45-year-old woman presented with a 10 year history of asymmetrical facial flushing and sweating after exertion or in hot weather. During these episodes the right side of her face remained dry and white, while the left side normally flushed. Sweating was impaired on the left side in the limbs and trunk. She also had areflexia in the lower limbs and slow pupillary reactions to light and darkness, as seen in Adie's syndrome. The topography of the sweating disorder suggested that the lesion involved the sympathetic pathways at the level of spinal cord. The relationship with the harlequin syndrome and related disorders is discussed.
Visual evoked potentials (VEP) were recorded in the right and left parietal and occipital regions of 40 right-handed controls in a facial recognition task. VEP were studied first according to the renown of the faces, then according to their emotional expression. Asymmetry was noted between the hemispheres: P100 was of greater amplitude and longer latency in the left occipital region. Later components (P400 and P600) were of greater amplitude and longer latency in the right parietal region in all situations. P100 latency on the left side was shorter for renowned faces than for non-renowned faces (P = 0.05). P600 latency was shorter on the right (P < 0.03) and left (P < 0.05) sides for smiling than for non-smiling faces. When the subjects were asked to look for emotional expression of the face (smiling or non-smiling) P400 was very ample and P600 of little amplitude. When the subjects were asked to recognize the face (renowned or not renowned) P600 was very ample and P400 of little amplitude. Thus, there seems to be a differential treatment of information: automatic and rapid to detect emotion (P400), controlled, tardy (P600) and involving memory in the search for renown.
Vitreoretinochoroidopathy with microcornea, glaucoma and cataract must be considered to be a distinctively autosomal dominant affection. The authors present evidence in the form of 18 carriers of the same anomaly detected with a pedigree extending up to six generations. Microcornea and vitreoretinochoroidal dystrophy are the prime characteristics; hypertonia and cataract are induced complications. The syndrome may be attributed to a hereditary dysgenesis affecting the anterior part of the globe with trabecular and preequatorial corneal alterations. The dystrophy has a slow development as shown by the clinical and electroretinographic course. Present treatment only consists of controlling ocular hypertonia and cataract.
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In a patient with posterior medullary haemorrhage, first upbeat and later downbeat nystagmus occurred in the primary position. The lesion was limited to the posterior and medial part of the medulla. Clinical and electro-oculographic examination first showed upbeat nystagmus in the primary position and upgaze, with downbeat nystagmus in downgaze. Two and a half months later, there was downbeat nystagmus in the primary position and downgaze and upbeat nystagmus in upgaze.
The perceptual latency (PL) to detect stimuli during visual field measurement is not a usual routine test. An automated perimeter ('moniteur ophtalmologique') was used to measure the central 30 degrees of vision with static targets in 50 normal subjects. The visual field was divided into four areas. The purpose of this study was to compare the PL in each area. An increase in the PL was observed, the nasal superior area being longer than the inferior temporal area. It seems that this psychophysical test is transmitted by a specific class of retinal ganglion cells: Y cells. We believe that PL could be a tool for detecting retinal ganglion cell damage.
The authors present part of a study concerning inherited retinal dystrophies as recorded among the inhabitants of the Nord-Pas-de-Calais region of France. This retrospective study, covering eighteen years (from 1972 to 1989) and covering a population of nearly 4 millions inhabitants, has enabled us to assess the prevalence of each disease. 1,660 cases have been detected and 650 pedigrees have been established. The spatial distribution of the patients in reference to their places of origin in relation to the spatial division of area into "communes" or districts roughly corresponded to the population density and revealed a few centres of dominant retinal dystrophies in rural areas. The analysis of the distribution and inheritance of the various forms of retinitis pigmentosa confirmed the results obtained in other recent and similar studies carried out in other countries. The age pyramid of the detected cases followed that of the population under surveillance. Detection of all dystrophies increased up to the age of 35, then followed the normal decreasing pattern for older generations. As for retinoschisis, detection usually took place in the first fifteen years after birth; for Stargardt's disease, it has occurred up to the age of 20 and for Best's dystrophy, the process was the most extensive and the slowest to appear. The global number of dystrophies studied, corresponded to a prevalence of 1:1,490, which allowed us to estimate that the number of cases in France was 33,800. If we apply the phenomenon to all the populations of the European Community, we must consider that more than 300,000 patients are now affected by disabling hereditary retinal dystrophies.
The authors evaluated a family with X-linked progressive cone dystrophy and special attention was paid to female carriers. Twenty-four members of the family were examined. One generation II--male and five generation III--males were affected. Two generation II--females who, in each case had affected children, but who were asymptomatic, underwent electrophysiological evaluations. The electroretinograms were found to be subnormal in both patients with alterations of cone-mediated responses and color vision. The discovery of abnormalities in female carriers emphasized the necessity of systematically performing electroretinography, together with color vision testing and pedigree examination, when assessing so called sporadic cone dystrophy or in cases where the modes of inheritance are not clear.
A 26-year-old patient presented with acute chiasmal syndrome. Computerized Tomography and Magnetic Resonance Imaging demonstrated an intrachiasmal hematoma which was evacuated via a right subfrontal approach. Histological examination revealed an arteriovenous malformation. In 21 similar cases in the literature, surgery generally resulted in the improvement of ophthalmological signs. In 3/4 of the cases, histology identified a subjacent lesion (arteriovenous malformation, cavernoma, venous angioma, glioma).