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Biomedical subjects

M T Trese

Publications and source records attributed to M T Trese.

At least 55 records · Page 3Linked to original sources
PubMed1999

Evaluation of the peripherin/RDS gene as a candidate gene in families with age-related macular degeneration.

Age-related macular degeneration (AMD) is a heterogeneous group of disorders and is the leading cause of blindness in the elderly. While degeneration changes in the macula can occur at any time in life, it is the most common cause of severe visual impairment with advancing age. The disease affects approximately 11 million Americans and causes loss of central vision, impairing activities such as reading. The exact cause of the disorder is not known. In this report, we studied two unrelated families having familial-type AMD, with the assumption that mutations in the peripherin/retinal degeneration slow (RDS) gene could contribute to the disease phenotype. Our extensive analyses have identified two silent mutations (84D and 106V) in one family in the same allele of exon 1 which segregated in 3 patients with AMD. However, the fourth affected individual in the same family, as well as 40 normal controls, did not contain this mutation. Further analysis of exon 2 and exon 3 in both families did not show any other sequence alterations. Since one of these silent mutations (106V) has been reported to exist in certain general populations and the other mutation (84D) failed to segregate completely in the family, it is unlikely that these mutations are pathogenic. The results of the study suggest that the peripherin/RDS gene is not a major factor responsible for AMD in the families analyzed.

Aged↗
PubMed1999

Agreement between grating acuity at age 1 year and Snellen acuity at age 5.5 years in the preterm child. Cryotherapy for Retinopathy of Prematurity Cooperative Group.

PURPOSE: To examine the relation between grating acuity at age 1 year and Snellen acuity and grating acuity at 5.5 years, in preterm children with birth weights less than 1251 g. METHODS: Subjects were participants in the multicenter study of Cryotherapy for Retinopathy of Prematurity. The Teller acuity card (TAC; Vistech Consultants, Dayton, OH) procedure was used to measure monocular grating acuity in children at ages 1 and 5.5 years. Early-treatment diabetic retinopathy study (ETDRS) charts were used to measure the childrens' monocular recognition (Snellen) acuity at age 5.5 years. Data are presented for 575 eyes with measurable TAC grating acuity at 1 year and 111 eyes that had no measurable acuity at 1 year. RESULTS: Among eyes with normal acuity at 1 year, 86.8% showed normal Snellen acuity, and 94.3% showed normal grating acuity at 5.5 years. Among eyes that were blind (i.e., had no measurable TAC grating acuity) at 1 year, 96.8% showed no quantifiable Snellen acuity, and 89.2% showed no quantifiable grating acuity at 5.5 years. Only 2.4% of eyes had acuity in the range between normal and blind at 1 year (i.e., measurable grating acuity <1.6 cyc/deg); thus, the predictive value of acuity scores in this range could not be determined. Correlation analysis indicated that the relative position within the normal range of an eye's grating acuity score at 1 year was not predictive of the relative position within the normal range of that eye's acuity score at 5.5 years. CONCLUSIONS: Among a large population of low-birth-weight infants, eyes with normal grating acuity at age 1 year generally showed normal Snellen and grating acuity at age 5.5 years, and eyes that had no quantifiable acuity at 1 year remained blind at 5.5 years. Relative position of an eye's acuity score within the normal range was not predictive of the relative position of that eye's later acuity score.

Blindness↗
PubMed1998

Refractive changes associated with scleral buckling and division in retinopathy of prematurity.

OBJECTIVE: To examine the refractive changes that occur in infant eyes with retinopathy of prematurity (ROP) retinal detachments that are subjected to scleral buckling and subsequent division of the scleral buckle. METHODS: A retrospective medical record review of infants with ROP who were managed with an encircling scleral buckle that was subsequently divided and who underwent refraction evaluation during and after division of the scleral buckle. RESULTS: Seven eyes from 6 patients had scleral exo-plants placed for stage 4 ROP retinal detachments at a mean postconceptional age of 48 weeks. The mean refractive error in eyes with the scleral buckle was -11 diopters (D) (range, -5 to -25 D) with an induced mean anisometropia of -9.5 D. After division of the scleral buckle at a mean of 36 weeks postoperatively, the average post-scleral buckle refractive error was -5.68 D, resulting in a mean myopic reduction of 5.5 D. CONCLUSIONS: Scleral buckling in infants with ROP results in large myopic shifts, which are significantly reduced after division of the scleral buckle. This highlights the importance of repeated refraction testing in infants after placement and division of the scleral buckle to avoid refractive amblyopia.

Birth Weight↗
PubMed1998

Familial exudative vitreoretinopathy. Results of surgical management.

OBJECTIVE: The purpose of the study was to report the results of surgical management of familial exudative vitreoretinopathy (FEVR). DESIGN: The study design was a retrospective clinical study. PARTICIPANTS: A consecutive series of 52 eyes of 26 patients with FEVR were studied. INTERVENTION: All eyes underwent a complete ocular examination and were graded using a new classification system. Depending on the severity of disease, eyes were treated with peripheral laser photocoagulation, scleral buckling, or vitrectomy. MAIN OUTCOME MEASURES: Preoperative and postoperative visual functions and anatomic status of the macula were the main parameters evaluated. RESULTS: A total of 40 eyes were treated. Seven eyes required no treatment and five eyes had inoperable retinal detachments. Fifteen eyes were treated with peripheral laser ablation initially and 25 eyes presenting with retinal detachments required vitreoretinal surgery. Of the 15 eyes treated initially with laser, 8 eyes required no further treatment, whereas 7 eyes progressed to retinal detachment requiring vitreoretinal surgery. A total of 32 eyes (including 7 previously lasered eyes) underwent vitreoretinal surgery. Twenty-nine of these 32 eyes had at least 6 months of follow-up. At the last follow-up visit, the macula was attached completely in 18 eyes (62.1%). Visual acuity ranged from 20/25 to light perception, with 10 (34.5%) of the 29 eyes achieving Snellen acuities of 20/100 or better. Two eyes (6.3%) progressed to no light perception. CONCLUSION: These data suggest that surgical intervention can be beneficial in selected cases of FEVR.

Adolescent↗
PubMed1998

Long-term postoperative results of a consecutive series of stages 4 and 5 retinopathy of prematurity.

OBJECTIVE: The purpose of the study was to assess the long-term, anatomic, and functional results of a consecutive series of stages 4 and 5 retinopathy of prematurity (ROP) eyes after surgical management. DESIGN: A retrospective analysis of 42 eyes of 21 children yielded 34 eyes of 19 children who were operated on for stages 4 and 5 ROP. PARTICIPANTS: In 33 of 34 eyes, it was possible to have age-appropriate vision testing. The children were followed for a mean of 44 months. RESULTS: Seventy-six percent of eyes (25 of 33) in which vision testing was possible had partial or complete attachment of the posterior pole. Fifteen percent of all eyes achieved 20/300 or better visual acuity. Thirty percent of all eyes achieved 20/800 or better visual acuity. Forty-eight percent of eyes achieved ambulatory vision of 20/ 1900 visual acuity or better, and 72% of eyes achieved light perception or better vision. All eyes were managed similarly for their preoperative screening, surgical therapy, and postoperative refractive correction by one vitreoretinal surgeon and one pediatric ophthalmologist. CONCLUSION: Timely surgical intervention and appropriate postoperative care can result in useful vision in stages 4 and 5 ROP.

Birth Weight↗
PubMed1998

Plasmin enzyme-assisted vitrectomy in traumatic pediatric macular holes.

OBJECTIVE: This study aimed to evaluate the benefit of plasmin enzyme-assisted macular hole surgery on a consecutive series of pediatric patients with traumatic macular holes. DESIGN: Prospective noncomparative case series operated on at William Beaumont Hospital between July 13, 1996, and November 16, 1996, and observed for at least 6 months. PARTICIPANTS: During this interval, the authors operated on four eyes from four consecutive patients who were 14 years of age or younger with traumatic macular holes. INTERVENTION: The patients underwent plasmin enzyme-assisted pars plana vitrectomy with membrane peeling, fluid-gas exchange, and postoperative positioning. The enzyme used was 0.4 international unit (IU) of autologous plasmin enzyme. MAIN OUTCOME MEASURES: Snellen lines of improvement in visual acuity and rate of final visual acuity of 20/40 or greater, and incidence of complications and reoperations were measured. RESULTS: All four macular holes were closed successfully. Follow-up was from 6 to 12 months. There were no reoperations. Visual acuity improved from four to eight lines in all eyes. Three eyes (75%) achieved a postoperative visual acuity of 20/40 or better. Three eyes (75%) had transient, posterior, subcapsular cataracts develop: two of the eyes after surgery and one as a result of the initial injury. CONCLUSION: The treatment of pediatric traumatic macular holes with plasmin enzyme-assisted vitrectomy, membrane peeling, and gas-fluid exchange resulted in closure of the macular holes with significant visual improvement.

Adolescent↗
PubMed1998

Good visual acuity in an adult population with marked posterior segment changes secondary to retinopathy of prematurity.

PURPOSE: To show that good visual acuity can be compatible with marked posterior segment changes secondary to retinopathy of prematurity (ROP) in the adult population. METHODS: A retrospective chart review of adult patients with regressed ROP. We found 14 eyes in 12 patients who were older than 21 years with a visual acuity of 20/60 or better associated with marked posterior segment changes secondary to ROP. RESULTS: Of the 14 eyes, 11 were myopic, with six eyes having the spherical equivalent of > or = -6.00. Best-corrected visual acuities ranged from 20/15-20/60. One eye had a macular fold. Thirteen eyes had macular ectopia. CONCLUSIONS: Good vision can be compatible with marked posterior segment changes secondary to ROP in an adult population. This emphasizes the need to follow these patients closely during childhood and treat them promptly for any amblyogenic condition that could prevent them from reaching their full visual potential.

Adult↗
PubMed1997

Identification of a polymorphic missense (G338D) and silent (106V and 121L) mutations within the coding region of the peripherin/RDS gene in a patient with retinitis punctata albescens.

Retinitis punctata albescens is a progressive retinal disorder which shows a variety of clinical manifestations. It is very similar to retinitis pigmentosa, but the affected individuals do not show intraretinal pigmentation. In this report we studied one sporadic type retinitis punctata albescens patient with the assumption that mutation in the peripherin/RDS gene could contribute to the disease phenotype. We have analyzed the sample from an affected individual by single-strand conformation polymorphism following polymerase chain reaction amplification of the exons of the peripherin/RDS gene. The amplified products were sequenced by the dideoxy chain termination method. DNA sequencing of the exon-1 revealed two silent mutations (106V and 121L) and of exon-3 one missense mutation (G338D)in the affected individual. These mutations were not found in unrelated individuals in certain normal population. The above data suggest that sporadic retinitis punctata albescens is not caused by mutations within the coding sequence of the peripherin/RDS gene.

Adolescent↗
PubMed1997

Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity.

BACKGROUND: Retinopathy of prematurity (ROP) is a retinal vascular disease occurring in infants with short gestational age and low birth weight and can lead to retinal detachment (ROP stages 4 and 5). X-linked familial exudative vitreoretinopathy is phenotypically similar to ROP and has been associated with mutations in the Norrie disease (ND) gene in some cases. OBJECTIVE: To determine if similar mutations in the ND gene may play a role in the development of advanced ROP. METHODS: Clinical examination and molecular genetic analysis were performed on 16 children, including 2 dizygotic and 1 monozygotic twin pairs, and their parents from 13 families. RESULTS: Sequencing of the amplified products revealed missense mutations (R121W and L108P) in the third exon of the ND gene in 4 patients. These mutations were not present in an unaffected premature twin, 2 children with regressed stage 3 ROP, the parents, or in 50 unrelated healthy control subjects. CONCLUSION: These findings suggest that mutations in the ND gene may play a role in the development of severe ROP in premature infants.

DNA Mutational Analysis↗
PubMed1997

Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy.

X-linked Familial Exudative Vitreoretinopathy (XLFEVR) is a hereditary eye disorder that affects both the retina and the vitreous body. It is characterized by an abnormal vascularization of the peripheral retina. It has been previously shown by linkage and candidate gene analysis that XLFEVR and Norrie disease are allelic. In this report we describe four novel mutations (R41K, H42R, K58N, and Y120C) in the Norrie disease gene associated with one X-linked and four sporadic cases of FEVR. One mutation (H42R) was found to be segregating with the disease in three generations (X-linked family), and the others are sporadic. These sequence alterations changed the encoded amino acids in the Norrie disease protein and were not found in 17 unaffected family members or in 36 randomly selected normal individuals. This study provides additional evidence that mutations in the same gene can result in FEVR and Norrie disease. It also demonstrates that it may be beneficial for clinical diagnosis to screen for mutations in the Norrie disease gene in sporadic FEVR cases.

Blindness↗
PubMed1997

Vitreoretinal surgery for complications of congenital retinoschisis.

PURPOSE: To report the results of vitreoretinal surgery for the management of complications associated with congenital retinoschisis in children. METHODS: We conducted a review of consecutive children with complications of congenital retinoschisis treated with advanced vitreoretinal techniques. Nine eyes of seven patients with congenital retinoschisis had vitreoretinal surgery for one of the following complications of congenital retinoschisis: hemorrhage within a large schisis cavity with a dense vitreous hemorrhage; rapid progression of schisis threatening the macula; obscuration of the macula by the overhanging inner wall of a schisis cavity; a combined schisistraction retinal detachment; or a combined schisis-rhegmatogenous retinal detachment. Vitreoretinal surgery consisted of vitrectomy, inner schisis wall retinectomy, fluid-gas exchange, endolaser treatment, and perfluoropropane gas injection. After vitreoretinal surgery, patients were followed up for a mean of 26 months (range, 9 to 67 months). Retinal reattachment, visual acuity, and visual fields were used as outcome measures. RESULTS: Eight of nine eyes had successful retinal reattachment. Six eyes postoperatively had improved visual acuity or visual field, or both. One eye had stabilization of visual acuity, and two eyes had a decrease in visual acuity. CONCLUSION: In children with complications of congenital retinoschisis, vitreoretinal surgery with excision of the inner wall of the peripheral schisis cavity may be effective in achieving retinal reattachment, thereby improving visual acuity or visual field size.

Adolescent↗
PubMed1997

Vitrectomy for retained lens fragments after phacoemulsification.

PURPOSE: Posterior lens fragments after phacoemulsification can be a serious complication of cataract surgery. This study is designed to evaluate the clinical features of eyes after pars plana vitrectomy has been performed to remove posteriorly dislocated lens fragments after phacoemulsification. METHODS: The authors performed a retrospective chart review of 126 consecutive eyes of 126 patients with dislocated lens fragments after phacoemulsification, managed with pars plana vitrectomy at Associated Retinal Consultants of Michigan. These eyes were operated on from January 1986 through January 1996. RESULTS: The relation of the intervals between cataract surgery and vitrectomy to various postoperative clinical parameters was studied. Clinical features at presentation included elevated intraocular pressure (IOP over 25 mmHg) in 52.4% of the eyes, uveitis in 69.6%, and corneal edema in 50.8%. Initial visual acuity was 20/400 or worse in 73.8% of the eyes. The mean preoperative visual acuity was 20/278 (median, 20/400), whereas the mean final visual acuity was 20/40 (median, 20/50) after a mean follow-up of 18.9 months. Retinal detachments were found in 20 eyes: 7 before vitrectomy and 13 during or after it. After surgery, 44% of eyes achieved a final visual acuity of 20/40 or better and 90% were 20/400 or better. The distribution of best-corrected final visual acuities among the eyes showed statistically significant differences based on the type of intraocular lens (IOL) used, with posterior chamber IOL greater than anterior chamber IOL, and anterior chamber IOL greater than aphakia. Reasons for a poor visual outcome included persistent corneal edema (four eyes), retinal detachment (two eyes), central retinal vein occlusion (two eyes), age-related macular degeneration (two eyes) glaucoma (one year), and endophthalmitis (one eye). CONCLUSIONS: There were no statistically significant differences between early (< 7 days) and delayed (8 days or more) vitrectomy when increased IOP, corneal edema, choroidal effusions, cystoid macular edema, and visual acuity were analyzed. The use of vitrectomy to remove posteriorly dislocated lens fragments has been shown to be an effective treatment method that significantly reduces the inflammatory response and hastens visual recovery.

Adult↗
PubMed1997

Lens clarity after lens-sparing vitrectomy in a pediatric population.

PURPOSE: The purpose of the study is to assess lens clarity after pediatric lens-sparing vitrectomy. METHODS: The study offers a retrospective analysis of 85 eyes of 77 pediatric patients who underwent lens-sparing vitrectomy for tractional retinal detachment or opaque media, and who were observed for 10 to 55 months. RESULTS: A total of 57 eyes maintained clear lenses at last follow-up examination. Cataract was found in 13 (15%) of the 85 eyes. Fifteen eyes (18%) had undergone lens removal as part of reoperation for progressive ocular disease. CONCLUSION: Sixty-seven percent of pediatric lenses remained clear after lens-sparing vitrectomy.

Cataract↗
PubMed1997

Ocular findings in cutis marmorata telangiectatica congenita. Bilateral exudative vitreoretinopathy.

BACKGROUND: Cutis marmorata telangiectatica congenita is a rare, cutaneous, reticulated, vascular anomaly characterized by congenital persistent cutis marmorata, telangiectasis, and phlebectasis. While systemic abnormalities frequently are associated with cutis marmorata telangiectatica congenita, ophthalmic abnormalities are quite rare and include congenital glaucoma and congenital, bilateral, total retinal detachments with secondary glaucoma. METHODS: The authors report a case of bilateral, tractional retinal detachments associated with peripheral fibrovascular proliferation simulating familial exudative vitreoretinopathy in a female child with cutis marmorata telangiectatica congenita. Molecular genetic analysis of the Norrie's disease gene was performed. RESULTS: After vitrectomy, the posterior poles of both eyes were reattached successfully. No abnormalities of the Norrie's disease gene were identified. CONCLUSIONS: Bilateral exudative vitreoretinopathy is a rare ophthalmic manifestation associated with cutis marmorata telangiectatica congenita.

Child, Preschool↗