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Biomedical subjects

F Valtot

Publications and source records attributed to F Valtot.

At least 19 recordsLinked to original sources
PubMed1998

Founder effect in GLC1A-linked familial open-angle glaucoma in Northern France.

Open-angle glaucoma (POAG) is a highly prevalent cause of visual impairment. Six families grouping 71 living patients affected with juvenile-onset and middle-age POAG (age at diagnosis ranging from 10 to 65 years) were linked to the GLC1A locus. All patients carried a mutation of an evolutionarily conserved asparagine residue to a lysine at position 480 (N480K) in the olfactomedin-homology domain, which is encoded by the third exon of the GLC1A gene. The N480K mutation was also identified in 14 unaffected carriers who are at high risk of developing POAG. Although four of the families had ancestors identified in Northern France, the pedigrees could not be interconnected by genealogical investigation. However, haplotype analysis indicated that all the carriers had inherited the N480K mutation from the same founder. Screening of a selected set of 67 POAG patients who originated from Northern France and underwent trabeculectomy before the age of 50, detected one patient with the N480K mutation associated with the same disease haplotype already characterized in the 6 families. This group of 72 POAG patients is the largest one having a GLC1A mutation in common and provides a unique tool to investigate the factors influencing the variable expressivity of the GLC1A gene.

Adolescent↗
PubMed1997

Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma.

Primary open-angle glaucoma (POAG) is a highly prevalent cause of irreversible blindness which associates cupping of the optic disc and alteration of the visual field, elevation of intraocular pressure being a major risk factor. Provided diagnosis is made at an early stage, treatments are available to prevent visual impairment. A locus, GLC1A, has been mapped on chromosome 1q23-q25 in several families affected with juvenile-onset POAG (JOAG) and also in some families affected with juvenile and middle-age onset POAG. Recently, three mutations of the TIGR (Trabecular meshwork-Induced Glucocorticoid Response) gene were shown to be responsible for the disease in several American families and in unrelated POAG patients. We now describe five new mutations in eight French families. All mutations known to date appear to concentrate in the evolutionarily conserved C-terminal domain of TIGR which bears homology to frog olfactomedin, an extracellular matrix glycoprotein of the olfactory epithelium, to rat and human neuronal olfactomedin-related proteins and to F11C3.2, a protein from Caenorhabditis elegans . Moreover, this conserved domain of TIGR is encoded by a single exon to which mutation screening could be limited. Surprisingly, the TIGR message, which is abundantly transcribed in the trabecular meshwork and also in the ciliary body and the sclera, is not expressed in the optic nerve whose degeneration is, however, the primary lesion of POAG.

Adolescent↗
PubMed1997

Genetic heterogeneity of primary open angle glaucoma and ocular hypertension: linkage to GLC1A associated with an increased risk of severe glaucomatous optic neuropathy.

The GLC1A locus for autosomal dominant juvenile and middle age onset primary open angle glaucoma (OAG) has been mapped to chromosome 1q21-q31. OAG, however, is a heterogeneous disease. We tested linkage of OAG and ocular hypertension (OHT), a major risk factor for OAG, to GLC1A in eight French families with multiple cases of juvenile and middle age onset OAG. There was strong evidence of genetic heterogeneity, four families being linked to GLC1A and two or three others being unlinked, depending on whether the complete OAG phenotype was analysed alone or jointly with OHT. Peak intraocular pressure (IOP) did not differ significantly between the two groups of families, while linkage to GLC1A conferred a highly increased risk of developing OAG and of having severe glaucomatous optic neuropathy. Testing linkage of familial OAG to GLC1A may therefore have prognostic value too.

Adult↗
PubMed1997

[Treatment of refractory glaucomas by transscleral cyclophotocoagulation using semiconductor diode laser. Analysis of 50 patients followed-up over 19 months].

PURPOSE: To evaluate the effects of transscleral cyclophotocoagulation with the diode laser for refractory glaucoma with respect to intra-ocular pressure, reduction of medical therapy and complications. METHODS: The diode laser system (Iris Medical Instrument, Oculight SLX) was used to treat 50 eyes of 47 patients with therapy resistant glaucoma and a poor prognosis with filtering surgery. All eyes had maximal hypotonic therapy and 40 (82%) patients were using carbonic anhydrase inhibitors. Laser energy was delivered to the eye through a quartz glass fiber optic probe [13 to 20 spots over 270 degrees using 3.5 J (1.75 W x 2.0 sec)]. The mean follow-up was 19.4 +/- 9.1 months (from 12 to 29 months). RESULTS: Intra-ocular pressure significantly decreased from mean baseline 32.4 +/- 9.1 mmHg to 19.7 +/- 8.1 mmHg at the end of the follow-up (p < 0.001). An intra-ocular-pressure below 20 mmHg was obtained in 66% of the eyes. In 13 patients the carbonic anhydrase inhibitors were discontinued. Six of the 8 painful eyes had pain relief. Visual acuity decreased in 17 (34%): cataract progression in 5 eyes, uncontrolled intra-ocular-pressure in 4 eyes, glaucoma progression despite controlled intra-ocular-pressure in 3 eyes, corneal dystrophy in 3 eyes. Chronic uveitis occurred in 5 (10%) eyes. No conjonctival, scleral or direct lens damage was detected. CONCLUSION: Contact transscleral cylophotocoagulation with the diode laser system can be successfully used to reduce intra-ocular-pressure in therapy resistant glaucoma. The incidence of complications is low with no loss of vision related to cyclodestruction.

Adolescent↗
PubMed1996

Age-dependent penetrance and mapping of the locus for juvenile and early-onset open-angle glaucoma on chromosome 1q (GLC1A) in a French family.

The GLC1A locus for autosomal dominant primary open-angle glaucoma (POAG) with juvenile onset (before 20 years) has been mapped to chromosome 1q21-q31. Recently, a French-Canadian family was described in which both juvenile-onset and middle-age or early-onset POAG were observed and linked to GLC1A. We now describe a second POAG family with variable age of onset (range 11-51, median 36 years of age). Linkage to GLC1A was established with a maximum lod score of 6.21 at the D1S452 locus. A recombination event in a severely glaucomatous patient restricted the distal boundary of the GLC1A interval proximal to the AFM154xc9 marker. This study strengthens the idea that early-onset POAG may also be determined by the GLC1A genetic region.

Adolescent↗
PubMed1995

[Treatment of refractory glaucoma by diode semiconductor laser cyclophotocoagulation].

PURPOSE: Ciliary photocoagulation was used to reduce pressure in eyes with refractory glaucoma or to suppress pain in blind painful eyes. The efficiency of transscleral cyclophotocoagulation (TSCPC) with a clinical diode laser system (Iris Medical Instrument, Oculight SLX) was evaluated. METHODS: This diode laser system (wavelengh: 810 nm) provides light energy to the eye through a specially designed quartz glass fiberoptic probe allowing precise location centered 1.2 mm behind the limbus, i.e. in front of the ciliary body. Thirty eight eyes in 38 patients with refractory glaucoma underwent TSCPC with the diode laser. RESULTS: Three months after surgery, intra-ocular pressure was controlled at 20 mmHg or below in 70% of the patients. Patients who most failed with the TSCPC had higher initial IOP (neovascular and congenital glaucoma). Seventy five percent of the painful glaucoma were painless after the laser treatment. Only a few cases (10%) of transient secondary hypertony were observed. The inflammatory response (21%) was mild and transient. No case of scleral perforation, no case of posterior uveitis, cararact or hypotony were observed. CONCLUSION: The transscleral ciliary photocoagulation laser diode system is efficient to reduce intraocular pressure in refractory glaucoma. Complications are mild compared with other methods of cyclophotocoagulation. A long-term study is necessary to evaluate the results on IOP and the incidence of hypotony.

Adolescent↗
PubMed1995

[Treatment of refractory glaucoma with Nd:YAG laser cyclophotocoagulation].

We treated 54 eyes of 51 patients with refractory glaucoma by using contact transscleral Neodymium: YAG laser cyclophotocoagulation; 32 burns (7 watts during 0.7 second) were applied to each eye by positionning the anterior edge of the probe at 0.5 to 1 mm from the limbus. The mean preoperative intraocular pressure (IOP) was 33.7 mmHg and the mean postoperative IOP was 25.6 mmHg with a follow-up of five months. There was a decrease of IOP in 72.3% of the cases. The postoperative IOP was controlled (IOP < 21 mmHg) in 41.3% of the treated eyes. Pain decreased in 6.7% of the cases that had no control of IOP and they could stop their medical treatment. During the follow-up period we observed neither early post operative hypertonia nor phtisis bulbi. Three eyes had scleral perforations. Laser treatment can be repeated if necessary in no controlled IOP cases. We had less complications with the laser treatment than with cyclocryoapplication. We described the advantages of the contact probe used.

Adult↗
PubMed1995

[Treatment of refractory glaucoma with high density focused ultrasonics].

The efficacy of therapeutic ultrasound was retrospectively assessed in 456 patients who presented with uncontrolled glaucoma refractory to maximal medical therapy and filtration surgery from April 1987 to January 1992. Treatment was performed under local anaesthesia in ambulatory outpatients. Therapeutic ultrasound induced local destruction of the ciliary epithelium and a thickening of the sclera. A 47% decrease in intraocular pressure (IOP) was obtained from the mean preoperative (33.8 mmHg) and the mean postoperative (18.2 mm Hg) values. After a 33-month mean follow-up, 65% of treated eyes had an IOP less than or egal to 20 mmHg. Therapeutic ultrasound was effective in most of the glaucomas, especially in open angle, closed angle, aphakic, pseudophakic and post-silicone oil glaucoma. The main complications were immediate ocular hypertension and corneoscleral alterations. Phtysis bulbi occurred in 5.7% of the eyes. The therapeutic interest of ultrasound were compared with those of the other cyclodestruction techniques.

Adolescent↗
PubMed1994

[Linkage between juvenile glaucoma and chromosome 1q in 2 French families].

Primary open-angle glaucoma is a major cause of irreversible blindness in Western countries for which there is presently no curative treatment. Linkage of hereditary juvenile glaucoma with chromosome 1q21-q23 was recently described in 2 American families. Here we have studied two large French pedigrees with a similar form of familial autosomal dominant juvenile-onset glaucoma. Linkage of glaucoma with chromosome 1 was confirmed in these 2 families. Maximal lod-score of 7.60 was reached at the D1S212 marker for a recombination fraction of 4.4%. The typing of this marker should facilitate the screening of glaucoma families and the identification of individuals at risk for the disease. It will also provide a reference to evaluate the genetic heterogeneity of glaucoma.

Adolescent↗
PubMed1992

[Ultrasonic treatment of hypertonia caused by intraocular silicone oil].

The authors treated 53 patients with uncontrolled glaucoma in silicone oil filled eyes with high intensity focused ultrasound. The silicone oil filled eyes present unusually difficult problems in glaucoma management, since the silicone oil rapidly obstructs filtration openings, and laser techniques have not been effective. The mean pretreatment pressure was 34.2 mmHg. The patients were followed for a mean of 17 months. Seventy-five per cent of ultrasound treated eyes had successful reduction of intraocular pressure to below 20 mmHg with or without concomitant medical treatment at two years after treatment. The complication rate was low in this group of eyes. Five eyes developed hypotonia and three eyes had full thickness scleral perforations but were effectively controlled and developed no other complications during two years of follow-up. This technique appears more effective than cyclo-destructive techniques alone.

Adolescent↗
PubMed1992

Therapeutic ultrasound for the treatment of glaucoma.

We present a summary of the results obtained on 1142 treatments of 1072 eyes treated in our hospital during the last 5 years. Ultrasound has been used to treat 843 eyes with refractory glaucoma and also to restore failed trabeculectomy filtering blebs in 229 eyes. The single treatment success rate with success defined as an IOP > or = 20 mm Hg was 59% at one year and 46% at 3 years. In cases of failed blebs, ultrasound treatment performed 3 to 12 weeks after trabeculectomy revived the blebs of 82% of the phakic eyes when 5 FU subconjunctival injections were performed in the following days.

Glaucoma↗
PubMed1989

Treatment of glaucoma with high intensity focused ultrasound.

Focused high intensity therapeutic ultrasound has been used since 1982 by Coleman and all, to treat patients with uncontrollable intraocular pressure. Three mechanisms may be responsible for lowering intraocular pressure: decreased aqueous humor production in the ciliary epithelium, transscleral outflow of aqueous humor, and increased uveal outflow. We began the use of focused ultrasound to treat glaucoma in April 1987. Up to now (April 1988), we have treated 220 patients. We describe results from patients that had a follow up of 3, 6, 12 months. Successful treatment resulting in pressure less than 20 mm Hg, was obtained in over 80% of patients treated at 90 days post treatment and of 50% after 6 and 12 months. The complication rate is low. Retreatment is safe and effective. Additionally, the use of U.S. to open closed filtering blebs, recently postoperative, has been a success in 90% of the treated eyes after 3 months. The follow-up period of this study is short which makes conclusions about long-term effects and side effects not possible.

Follow-Up Studies↗
PubMed1985

[Results 1 year after trabeculoretraction by 360 degree argon laser in the treatment of open-angle glaucoma].

On 210 glaucomatous patients (119 men, 91 women), 390 eyes with open angle chronic glaucoma, we have performed an argon laser trabeculoplasty according to Wise technique (360 degrees in one time). ALT was presented as an alternative to surgery. Therefore results were appreciated so that ALT allowed or not to avoid surgery. After one year, the rate of failures was: on all the 390 eyes: 15 p. cent on O.A.C.G. simplex: 6.7 p. cent on myopic glaucoma: 7 p. cent on pigmentary glaucoma: 29.5 p. cent on capsular glaucoma: 6 p. cent after trabeculectomy: 62 p. cent on aphakic glaucoma: 50 p. cent on secondary glaucoma: 33 p. cent on combined glaucoma: 0 p. cent In the group of successful results, ALT allowed to lower medical treatment in at less 70 p. cent after one year of follow-up except for pigmentary glaucoma where, in almost all cases, medication before ALT had to be continued.

Age Factors↗