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Biomedical subjects

M T Trese

Publications and source records attributed to M T Trese.

At least 73 records · Page 4Linked to original sources

Linkage mapping of new X-linked juvenile retinoschisis kindreds using microsatellite markers.

X-linked retinoschisis (RS) is an inherited bilateral eye disorder with variable clinical manifestations. Previous studies have localized RS locus to the region Xp22.1-p22.3 on the short arm of the X-chromosome. In an attempt to map the RS locus more precisely, we have performed linkage analysis in four previously unreported kindreds of different geographic origins using six microsatellite markers - DXS987, DXS207, DXS999, DXS443, DXS365 and DXS274 -- all located in the region Xp22.1-p22.3. Two point analysis suggests linkage to DXS207 (Zmax = 1.8 at theta max = 0) and DXS999, DXS443, DXS365 and DXS274 (Zmax = 1.2 at theta max = 0). Multipoint analysis has confirmed this linkage with these same markers (Zmax = 2.107 at theta = 0). There are no recombinants between the disease phenotype and the above markers. These results indicate that RS gene in our families is located in the same inclusion interval (between DXS987 and DXS274) reported for other RS families. Furthermore, they confirm the lack of genetic/locus heterogeneity of RS.

Chromosome Mapping↗

Visual acuity of eyes after vitrectomy for retinopathy of prematurity: follow-up at 5 1/2 years. The Cryotherapy for Retinopathy of Prematurity Cooperative Group.

PURPOSE: To provide long-term follow-up on the structural status and visual function at 5 1/2 years of age for 128 eyes of 98 infants who participated in the multicenter randomized clinical trial of cryotherapy for retinopathy of prematurity in whom total retinal detachment developed from retinopathy of prematurity (ROP) by the 3-month study examination. Fifty-four patients had lensectomy-vitrectomy procedures in one or both eyes before 1 year of age (n=72 eyes), and 44 patients did not (n=56 eyes). METHODS: When the children were 5 1/2 years of age, an eye examination was performed and residua of ROP was assessed. Recognition acuity (Early Treatment of Diabetic Retinopathy Study chart) and grating visual acuity (Teller acuity card procedure) assessments were undertaken by testers who were masked to the status of each of the child's eyes. RESULTS: At least partial retinal attachment was present at 5 1/2 years in 21% compared with 28% at 1 year of age (not significant). All except one of the eyes tested at 5 1/2 years had vision limited to light perception or no light perception, regardless of whether a vitrectomy had been performed. One eye that underwent vitrectomy had minimal pattern vision. The two eyes that were reported previously to have minimal pattern vision at 1 year of age were blind at the longer-term follow-up. CONCLUSIONS: The poor visual outcome after a lensectomy-vitrectomy procedure for retinal detachment due to ROP demands that emphasis be placed on prevention of retinal detachment in premature infants.

Child, Preschool↗

Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy.

Familial exudative vitreoretinopathy (FEVR) is a hereditary eye disorder characterized by avascularity of the peripheral retina, retinal exudates, tractional detachment, and retinal folds. The disorder is most commonly transmitted as an autosomal dominant trait, but X-linked transmission also occurs. To initiate the process of identifying the gene responsible for the X-linked disorder, linkage analysis has been performed with three previously unreported three- or four-generation families. Two-point analysis showed linkage to MAOA (Zmax = 2.1, theta max = 0) and DXS228 (Zmax = 0.5, theta max = 0.11), and this was further confirmed by multipoint analysis with these same markers (Zmax = 2.81 at MAOA), which both lie near the gene causing Norrie disease. Molecular genetic analysis further reveals a missense mutation (R121W) in the third exon of the Norrie's disease gene that perfectly cosegregates with the disease through three generations in one family. This mutation was not detected in the unaffected family members and six normal unrelated controls, suggesting that it is likely to be the pathogenic mutation. Additionally, a polymorphic missense mutation (H127R) was detected in a severely affected patient.

Base Sequence↗

The incidence of corneal abnormalities in the Silicone Study. Silicone Study Report 7.

OBJECTIVE: To determine factors that were prognostic of corneal abnormalities in eyes following surgery for severe proliferative vitreoretinopathy. DESIGN: Subgroup analysis of the Silicone Study. SETTINGS: Community and university-based ophthalmology clinics. MATERIALS: Eyes with attached maculae at the 24-month follow-up examination that did not have a pre-existing corneal abnormality. INTERVENTIONS: Vitrectomy surgery with long-acting gas or silicone oil. OUTCOME MEASURES: Epithelial and/or stromal edema, corneal opacity and/or previous corneal transplant. RESULTS: The incidence of corneal abnormalities at 24 months was 27% and did not differ significantly between treatment groups. Prognostic factors were preoperative aphakia or pseudophakia (P = .003), preoperative iris neovascularization (P = .006), reoperation (P = .001), the absence of a fluid/gas exchange (P = .03), corneal touch by silicone oil (P = .02), and the presence of aqueous cells (P = .009) or aqueous flare (P = .08). In a multivariate analysis, independent prognostic factors were iris neovascularization (relative risk [RR] = 13.1), aphakia or pseudophakia (RR = 3.0), postoperative aqueous flare (RR = 5.4), and reoperations (RR = 3.4). Corneal abnormalities were correlated with poor visual acuity and hypotony (P < .001). CONCLUSIONS: To our knowledge, this is the first study to document that the incidence rates of corneal abnormalities are equivalent between oil and gas. The incidence of corneal abnormalities in gas-filled eyes was higher than expected, and remained high in oil-filled eyes, despite the use of an inferior iridectomy. Successful surgical repair of the retinal detachment with a single operation, and prevention and early management of corneal touch by silicone oil should help to prevent corneal abnormalities. If rubeosis iridis or severe aqueous flare is present, preoperative treatment with intense topical and possibly periocular steroids might reduce inflammation, which might mediate corneal damage.

Adult↗

The role of inner wall retinectomy in the management of juvenile retinoschisis.

PURPOSE: The purpose of this paper is to describe the technique and application of relief of vitreous traction and inner wall retinectomy in the management of juvenile retinoschisis (JRS). In addition, during the course of this study a previously undescribed form of tractional retinal detachment associated with retinal schisis was observed. METHODS: Six eyes of four children with visual field and/or central vision loss underwent vitrectomy (in five of the six eyes the lenses were preserved), inner wall retinectomy and photocoagulation for rhegmatogenous/schisis retinal detachment, tractional retinal detachment and reduced central vision secondary to intraschisis hemorrhage overhanging the macula. RESULTS: The children were followed up for 1 to 4 years. All eyes showed anatomic reattachment. Three of the four eyes that could be tested for vision showed improved visual function postoperatively. One eye showed marked enlargement of visual field and central visual acuity improvement from 20/200 preoperatively to 20/50 postoperatively. CONCLUSION: Inner wall retinectomy can be a useful ajunct in the management of the retinal complication of JRS. Appropriate case selection of eyes with associated central traction retinal detachment can result in improved visual field and central visual acuity. The success of this technique suggests that the mechanical and/or pharmacological relief of vitreous traction may be able to alter the clinical course of JRS.

Child↗

Improved surgical treatment of familial exudative vitreoretinopathy in children.

PURPOSE: To evaluate current surgical results in patients with familial exudative vitreoretinopathy and study the histologic findings of epiretinal membranes obtained at the time of surgery. METHODS: We performed phakic pars plana vitrectomy and membrane peeling on five patients (six eyes) with familial exudative vitreoretinopathy, who ranged in age from 18 months to 9 years and had traction retinal detachment. Membranes from two eyes (two patients) were analyzed by light and electron microscopy. RESULTS: The macula was reattached in all six eyes. Visual acuity improved after surgery in five of the six eyes, with two eyes improving from a preoperative visual acuity of 20/400 to a postoperative visual acuity of 20/25 and 20/60. Electron microscopic analysis of the membranes from two patients disclosed thick fibrocellular fragments with vascular elements and astrocytes. CONCLUSION: With current surgical techniques, there appears to be improvement in the anatomic reattachment rate and visual outcome in patients with familial exudative vitreoretinopathy. Amblyopia, reproliferation, and vitreous hemorrhage may limit long-term improvement in vision.

Basement Membrane↗

Lens-sparing vitrectomy with perfluorocarbon liquid for the primary treatment of giant retinal tears.

PURPOSE: To evaluate the surgical success of vitrectomy without initial lensectomy in the primary treatment of retinal detachment associated with giant tears without proliferative vitreoretinopathy. METHODS: Thirty-four consecutive phakic eyes with idiopathic giant retinal tears underwent vitrectomy, injection of perfluorocarbon liquid, endolaser, and gas tamponade. Encircling scleral buckling was performed in 14 of 34 patients. Preoperative visual acuity ranged from 20/25 to hand motions. Giant tear size ranged from 90 degrees to 330 degrees. Follow-up ranged from 10 to 64 months. RESULTS: Anatomic retinal re-attachment was achieved intraoperatively in all eyes. The re-operation rate was 14% for eyes that underwent scleral buckling with the initial vitrectomy and 45% in eyes without primary scleral buckling. In 59% of eyes with cataract formation, 32% underwent cataract surgery with or without intraocular lens implantation. Best-corrected final visual acuity ranged from 20/15 to 20/400. CONCLUSION: Most phakic eyes with giant retinal tear not associated with proliferative vitreoretinopathy can be re-attached successfully with initial preservation of the lens.

Adolescent↗

Scleral buckling for retinopathy of prematurity.

PURPOSE: This study was undertaken to determine the anatomic effectiveness of scleral buckling on eyes with stages 4A, 4B, and 5 retinopathy of prematurity. METHODS: Seventy eyes of 44 infants had scleral buckling performed by one surgeon and were followed for at least 6 months. All except one child had previous bilateral peripheral ablation (cryo/laser). RESULTS: Twelve (70%) of 17 stage 4A eyes, 29 (67%) of 43 stage 4B eyes, and 4 (40%) of 10 stage 5 eyes had complete retinal reattachment or dry folds attached at their last follow-up visit. All eyes referred as stage 5 retinopathy of prematurity that reattached had a rhegmatogenous component. CONCLUSION: Scleral buckling appears to play a role in reducing progression from stage 4 to stage 5 retinopathy of prematurity.

Cryosurgery↗

Mapping studies of an X-linked familial exudative vitreoretinopathy.

Familial exudative vitreoretinopathy (FEVR) is a congenital hereditary, bilateral eye disorder which affects both retina and the vitreous body. As a first step toward the identification of the gene responsible for the X-linked disorder, we report here the results of DNA analyses from the patients and their parents of two families having members affected with FEVR. The results indicate that loci MIC2 and choroideremia are unlikely to be associated with the disease. Similar results are obtained with anonymous probes DXS7 and DXYS1 and microsatellite markers DXS426, DXS453 and DXS454. No signs of microdeletion, substitution and rearrangements in these loci could be detected. These data suggest that the above loci are probably not involved in determining the FEVR pathology.

Alleles↗

Pharmacologic induction of posterior vitreous detachment in the rabbit.

OBJECTIVE: To assay the proteolytic activity of plasmin on the vitreoretinal junction and to assess a potential facilitating effect on posterior vitreous detachment. METHODS: We injected 1 U of plasmin into the vitreous of rabbits. Some eyes underwent vitrectomy after plasmin injection. Electroretinography and electron microscopy were performed. RESULTS: In plasmin-treated eyes, electroretinography displayed a transient (3 days) decreased b-wave amplitude. Histologic examination demonstrated posterior vitreous detachment in eyes that received intravitreal plasmin followed by vitrectomy. CONCLUSION: Plasmin may prove to be a useful biochemical adjunct to mechanical vitrectomy.

Animals↗

X-linked recessive familial exudative vitreoretinopathy.

Familial exudative vitreoretinopathy is an inherited disorder characterized by retinal traction, peripheral vitreous opacities, and subretinal and intraretinal exudates. We observed a family in which four boys (the children of three sisters) were affected with this disorder and an X-linked recessive inheritance was apparent. The differential diagnosis includes retinopathy of prematurity, primary hyperplastic primary vitreous, Coats' disease, peripheral uveitis, retinoblastoma, and Norrie's disease, but this differentiation can usually be made on the basis of clinical findings alone. Knowledge of X-linked recessive transmission is important for correct diagnosis and for genetic counseling.

Child, Preschool↗

Lens-sparing vitreoretinal surgery in infants.

Lensectomy is routinely performed in infant eyes undergoing vitreoretinal surgery. Using a two-port system, we performed pars plicata vitrectomy and membrane peeling without removal of the crystalline lens. Surgical manipulations were done in the postequatorial region in eyes with areas of attached peripheral retina. Eight of 10 eyes showed no evidence of postoperative cataract formation. In no instance was a peripheral retinal break created. In selected cases, vitreoretinal surgery can be performed in infant eyes without the need for lens removal.

Child, Preschool↗

The pH of antibiotic vitreous infusion combinations: a potential cause of retinal toxicity.

Experiments were undertaken to measure the pH of solutions of commonly used intravitreal antibiotics in various irrigating solutions to determine whether a change in pH might be a factor in antibiotic-induced retinal toxicity. Such retinal toxicity has been particularly damaging when solutions of gentamicin have been used. The pHs of the following solutions were measured: gentamicin, amikacin, methicillin, tobramycin, and vancomycin, combined with balanced salt solution (BSS) PLUS (bicarbonate buffer), BSS (citrate/acetate buffer), and lactated Ringer's solution (lactate buffer). Each of these antibiotics induced a concentration-dependent decrease in pH of the solutions; gentamicin, amikacin and tobramycin produced the largest shifts. The results also demonstrated that BSS PLUS acts as the strongest buffer and lactated Ringer's as the weakest. We conclude that it is important to determine the pH of intraocular antibiotic irrigating solutions, not just the pH of the antibiotics.

Amikacin↗