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2.
J AAPOS ; 27(4): 208-211, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37321343

RESUMO

Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive bile acid synthesis disorder caused by pathologic variants in CYP27A1, a gene involved in bile acid synthesis. Impaired function in this gene leads to accumulation of plasma cholestanol (PC) in various tissues, often in early childhood, resulting in such clinical signs as infantile diarrhea, early-onset bilateral cataracts, and neurological deterioration. The current study aimed to identify cases of CTX in a population of patients with a greater CTX prevalence than the general population, to facilitate early diagnosis. Patients diagnosed with early-onset, apparently idiopathic, bilateral cataracts between the ages of 2 and 21 years were enrolled. Genetic testing of patients with elevated PC and urinary bile alcohol (UBA) levels was used to confirm CTX diagnosis and determine CTX prevalence. Of 426 patients who completed the study, 26 met genetic testing criteria (PC ≥ 0.4 mg/dL and positive UBA test), and 4 were confirmed to have CTX. Prevalence was found to be 0.9% in enrolled patients, and 15.4% in patients who met the criteria for genetic testing.


Assuntos
Catarata , Xantomatose Cerebrotendinosa , Pré-Escolar , Humanos , Criança , Adolescente , Adulto Jovem , Adulto , Xantomatose Cerebrotendinosa/diagnóstico , Xantomatose Cerebrotendinosa/epidemiologia , Xantomatose Cerebrotendinosa/genética , Prevalência , Colestanol , Ácidos e Sais Biliares , Catarata/diagnóstico , Catarata/epidemiologia , Catarata/genética
3.
J Binocul Vis Ocul Motil ; 72(4): 205-211, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36037434

RESUMO

PURPOSE: Age-related divergence insufficiency-esotropia (ARDIE) is characterized by greater esodeviation at distance than near. This study aims to compare the outcomes of unilateral and bilateral surgical approaches. PATIENTS AND METHODS: Sixty-two cases treated at the Kellogg Eye Center, the University of Michigan, from 1995 to 2018 were retrospectively reviewed. One surgeon used unilateral procedures including unilateral medial rectus recession (n = 24, group 1) or unilateral recession-resection (n = 18, group 2) with an adjustable suture. Another surgeon used bilateral medial rectus recession with fixed sutures (n = 20, group 3). RESULTS: For patients with distance esodeviation <15∆, postoperative distance deviations in both group 1 and group 3 were not statistically different (p = .352). For patients with esodeviations 15-20∆, postoperative distance deviations in all 3 groups were also not statistically different (p = .142). Similarly, patients with deviations >20∆ did not show significantly different postoperative distance alignment (p = .082) between group 2 and 3. Overall, group 2 had the highest overall success rate (90%) (mean at distance = 1.17∆ exodeviation, at near = 2.33∆ exodeviation). CONCLUSION: Both unilateral medial rectus recession ± lateral rectus resection and bilateral medial rectus recession surgical approaches produced similar favorable outcomes in ARDIE.


Assuntos
Esotropia , Exotropia , Humanos , Esotropia/cirurgia , Estudos Retrospectivos , Procedimentos Cirúrgicos Oftalmológicos/métodos , Visão Binocular , Resultado do Tratamento
4.
J AAPOS ; 25(4): 203.e1-203.e11, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34271207

RESUMO

PURPOSE: To describe 10-week and 12-month outcomes following treatment for divergence insufficiency-type esotropia in adults. METHODS: In this prospective observational study, 110 adults with divergence insufficiency-type esotropia, with a distance esodeviation measuring 2Δ to 30Δ and at least 25% larger at distance than near, and binocular diplopia present at least "sometimes" at distance, were enrolled at 28 sites when initiating new treatment. Surgery, prism, or divergence exercises/therapy were chosen at the investigator's discretion. Diplopia was assessed at enrollment and at 10-week and 12-month outcome examinations using a standardized diplopia questionnaire (DQ). Success was defined as DQ responses of "rarely" or "never" when looking straight ahead in the distance, with no alternative treatment initiated. RESULTS: Of the 110 participants, 32 (29%) were prescribed base-out prism; none had received prior treatment for esotropia. Success criteria were met by 22 of 30 at 10 weeks (73%; 95% CI, 54%-88%) and by 16 of 26 at 12 months (62%; 95% CI, 41%-80%). For the 76 (68%) who underwent strabismus surgery (82% of whom had been previously treated with prism), success criteria were met by 69 of 74 at 10 weeks (93%; 95% CI, 85%-98%) and by 57 of 72 at 12 months (79%; 95% CI, 68%-88%). CONCLUSIONS: In this study cohort, both base-out prism as initial therapy and strabismus surgery (usually following prism) were successful in treating diplopia for most adults with divergence insufficiency-type esotropia when assessed during the first year of follow-up.


Assuntos
Esotropia , Estrabismo , Adulto , Esotropia/cirurgia , Humanos , Músculos Oculomotores/cirurgia , Procedimentos Cirúrgicos Oftalmológicos , Estudos Prospectivos , Estudos Retrospectivos , Resultado do Tratamento , Visão Binocular
5.
Am J Ophthalmol ; 222: 166-173, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-32777375

RESUMO

PURPOSE: To report the results of contralateral recession-resection of the horizontal muscles in oculomotor nerve palsy with aberrant regeneration to correct both the strabismus and the ptosis in one procedure. DESIGN: Retrospective case series. METHODS: This is an institutional study on patients with oculomotor nerve palsy with aberrant innervation who had contralateral eye muscle surgery in 2 different centers. Patients were included if they have both exotropia and aberrant regeneration with a ptosis that improved on adduction. All patients had contralateral lateral rectus recession and medial rectus resection. Ductions, versions, angle of misalignment, and degree of ptosis were evaluated before surgery and at last follow-up. RESULTS: Eleven patients were identified. The mean age at surgery was 15.0 ± 9.2 years. Five patients were male (45%). Trauma was the cause in 8 (72%) cases. The mean angle of exotropia was 42 ± 14 prism diopters. The mean degree of ptosis was 3.9 ± 1.6 mm. The mean lateral rectus recession was 8.2 ± 1.1 mm, and the mean medial rectus muscle resection was 6.7 ± 0.9 mm. The mean follow-up was 6.4 ± 2.5 months. After surgery, none of the patients had residual exotropia >10 prism diopters. The mean degree of ptosis after surgery was 0.9 ± 0.8 mm. None of the patients required further surgery for ptosis or strabismus. CONCLUSION: Contralateral eye muscle in third nerve palsy with aberrant innervation offers the advantage of simultaneous correction of both strabismus and ptosis through a single procedure.


Assuntos
Movimentos Oculares/fisiologia , Músculos Oculomotores/cirurgia , Doenças do Nervo Oculomotor/cirurgia , Procedimentos Cirúrgicos Oftalmológicos/métodos , Visão Binocular/fisiologia , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Masculino , Músculos Oculomotores/fisiopatologia , Doenças do Nervo Oculomotor/fisiopatologia , Estudos Retrospectivos , Fatores de Tempo , Resultado do Tratamento , Adulto Jovem
6.
Sci Rep ; 10(1): 19986, 2020 11 17.
Artigo em Inglês | MEDLINE | ID: mdl-33203948

RESUMO

Nanophthalmos is a rare condition defined by a small, structurally normal eye with resultant high hyperopia. While six genes have been implicated in this hereditary condition (MFRP, PRSS56, MYRF, TMEM98, CRB1,VMD2/BEST1), the relative contribution of these to nanophthalmos or to less severe high hyperopia (≥ + 5.50 spherical equivalent) has not been fully elucidated. We collected probands and families (n = 56) with high hyperopia or nanophthalmos (≤ 21.0 mm axial length). Of 53 families that passed quality control, plausible genetic diagnoses were identified in 10/53 (18.8%) by high-throughput panel or pooled exome sequencing. These include 1 TMEM98 family (1.9%), 5 MFRP families (9.4%), and 4 PRSS56 families (7.5%), with 4 additional families having single allelic hits in MFRP or PRSS56 (7.5%). A novel deleterious TMEM98 variant (NM_015544.3, c.602G>C, p.(Arg201Pro)) segregated with disease in 4 affected members of a family. Multiple novel missense and frameshift variants in MFRP and PRSS56 were identified. PRSS56 families were more likely to have choroidal folds than other solved families, while MFRP families were more likely to have retinal degeneration. Together, this study defines the prevalence of nanophthalmos gene variants in high hyperopia and nanophthalmos and indicates that a large fraction of cases remain outside of single gene coding sequences.


Assuntos
Oftalmopatias Hereditárias/genética , Mutação da Fase de Leitura/genética , Hiperopia/genética , Proteínas de Membrana/genética , Microftalmia/genética , Mutação de Sentido Incorreto/genética , Serina Proteases/genética , Alelos , Estudos de Coortes , Olho/metabolismo , Feminino , Humanos , Masculino , Linhagem , Estados Unidos
8.
JAMA Ophthalmol ; 137(11): 1312-1316, 2019 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-31536098

RESUMO

IMPORTANCE: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive bile acid synthesis disorder caused by mutations in CYP27A1, the gene encoding sterol 27-hydroxylase, which results in elevated levels of plasma cholestanol and urinary bile alcohols. Clinical symptoms and signs may include early-onset chronic diarrhea, juvenile-onset bilateral cataracts, cholestatic jaundice, tendon xanthomas, and progressive neurological deterioration. Although initiation of treatment at a young age can prevent disease complications, diagnosis often occurs after the onset of permanent neurologic damage. Strategies are needed to facilitate early diagnosis. OBJECTIVE: To evaluate the prevalence of CTX in a patient population diagnosed with early-onset idiopathic bilateral cataracts. DESIGN, SETTING, AND PARTICIPANTS: This interim analysis of the Cerebrotendinous Xanthomatosis Prevalence Study was conducted in 26 active US sites from November 2015 to June 2017. The study included patients diagnosed as having idiopathic bilateral cataracts from ages 2 to 21 years. Potentially eligible study participants were identified through retrospective medical record review or on receiving care for cataracts at an active site. Data were analyzed from July 2017 to October 2018. MAIN OUTCOMES AND MEASURES: Measurement of plasma cholestanol levels and optional urine bile alcohol screening were performed. A plasma cholestanol concentration of 0.4 mg/dL or greater or a positive urine bile alcohol result prompted CYP27A1 genetic testing to confirm the diagnosis of CTX. RESULTS: Of 170 tested patients, 88 (51.8%) were male, and the median (range) age was 10 (2-49) years. A total of 3 patients (1.8%) had biochemical and genetic confirmation of newly diagnosed CTX (plasma cholestanol level greater than 1.0 mg/dL, positive urine bile alcohol result, and disease-causative mutations in CYP27A1). The mean (range) age at cataract diagnosis for patients with CTX was 12 (8-16) years. Reported symptoms included abnormal gait or balance (n = 3), learning disability (n = 2), cognitive decline (n = 2), seizures (n = 2), frequent bone fractures (n = 2), and chronic diarrhea (n = 1). CONCLUSIONS AND RELEVANCE: To date, 1.8% of patients in this study were diagnosed as having CTX, which is approximately 500-fold the currently estimated prevalence of CTX in the general population (3 to 5 per 100 000). These data suggest that juvenile-onset idiopathic bilateral cataracts may be useful as a screening marker for CTX and that ophthalmologists can play an important role in facilitating early identification of this condition.

9.
Ophthalmol Retina ; 3(9): 791-801, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31147303

RESUMO

PURPOSE: To describe the range of ocular manifestations in cutis marmorata telangectatica congenita (CMTC). DESIGN: Multicenter, retrospective, nonconsecutive case series. PARTICIPANTS: Patients with a diagnosis of CMTC referred for ophthalmologic evaluation between January 1, 2015, and December 31, 2018. METHODS: Evaluation of ocular findings at presentation, systemic manifestations suggestive of a diagnosis of CMTC, genetic testing, and visual outcomes after treatment. MAIN OUTCOME MEASURES: Visual acuity, findings on ophthalmoscopy, and results of fluorescein angiography. RESULTS: Nine patients with CMTC diagnosed clinically based on stereotypical cutaneous vascular malformations were included. The median age at presentation was 8 weeks (range, 2 weeks-4 years). Six patients were female and 3 were male. Avascular retina was identified on dilated fundus examination, fluorescein angiography, or both in 11 eyes of 6 patients. Retinal neovascularization was present bilaterally in 2 patients at presentation. One patient demonstrated retinal venous tortuosity, and another patient showed mild straightening of nasal retinal vessels in both eyes. Two patients (2 eyes) demonstrated retinal detachment (RD). Both were managed surgically. One infant demonstrated RD, whereas the other child showed extensive neovascularization and later progressed to combined tractional-rhegmatogenous detachment. A unique constellation of lacy peripheral capillary anomalies with prominent terminal vascular bulbs was noted in 3 patients. Granular pigment abnormalities were noted in the macula in 5 patients. Two patients demonstrated glaucoma, 1 requiring surgical intervention. Two patients demonstrated features of Adams-Oliver syndrome, with genetic testing identifying a Notch1 mutation in 1 patient. CONCLUSIONS: Retinal vascular abnormalities in CMTC may occur more frequently than recognized previously. Given the variability of ocular involvement and the potential for rapidly progressive retinal vascular abnormalities and development of RD, complete ophthalmologic evaluation including measurement of intraocular pressure, gonioscopy, dilated fundus examination, and fluorescein angiography is recommended in infants with suspected CMTC shortly after birth. The distinct pattern of lacy capillary anomalies with prominent terminal bulbs seen in CMTC has not been described in other syndromes of vascular dysgenesis. Therefore, ophthalmic examination may be a valuable method to distinguish CMTC from other disorders demonstrating similar dermatologic and systemic manifestations.


Assuntos
Descolamento Retiniano/patologia , Neovascularização Retiniana/patologia , Vasos Retinianos/patologia , Dermatopatias Vasculares/patologia , Telangiectasia/congênito , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Livedo Reticular , Masculino , Estudos Retrospectivos , Telangiectasia/patologia
10.
J AAPOS ; 22(5): 340-343, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-30075294

RESUMO

BACKGROUND: Statins, known to possess anti-inflammatory characteristics, have recently been identified as potentially reducing the risk of developing thyroid eye disease (TED) in Graves disease patients. The current study investigates the effect of oral statin therapy on strabismus related to TED. METHODS: This is a retrospective review of patients with a diagnosis of both TED and restrictive strabismus. Oral statin users and nonusers were analyzed for smoking status, previous radioactive iodine, thyroidectomy, number of decompressions, motility restriction, amount of strabismus, number of surgeries, surgical dose, and number of muscles involved on radiography. RESULTS: Thirty patients (average age, 63.9 years; 50% male; 59% current/former smokers) were included: 12 statin users and 18 nonusers. Statin users averaged fewer decompressions (1.3 in users vs 2.4 in nonusers [P = 0.04]). Statin users on average had 15 mm of total strabismus surgery compared with 21.4 mm in the nonuser group (P = 0.09) and had fewer muscles involved radiographically (4.3 vs 5.1 [P = 0.08]) CONCLUSIONS: Compared to nonusers, statin users tended to have fewer decompressions, less restriction, fewer surgeries, and fewer muscles involved despite having more current smokers (36% vs 5%), more males, more RAI, and fewer thyroidectomies, all of which are associated with worse TED. In our cohort of patients with TED and strabismus, statin therapy significantly reduced the number of orbital decompressions. Oral statin therapy also trended toward reducing the number and amount of strabismus surgeries as well as radiographic indication of muscle involvement, although these did not meet statistical significance.


Assuntos
Oftalmopatia de Graves/tratamento farmacológico , Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Estrabismo/prevenção & controle , Adulto , Idoso , Idoso de 80 Anos ou mais , Descompressão Cirúrgica/estatística & dados numéricos , Feminino , Oftalmopatia de Graves/complicações , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Estrabismo/cirurgia
11.
Adv Exp Med Biol ; 1074: 447-455, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29721975

RESUMO

Valproic acid (VPA) has been reported to inhibit cancer cell growth and has therapeutic use in retinal diseases. However, the mechanism of this action remains unclear. In order to explore this mechanism, primary human retinal pigment epithelial (hRPE) cell cultures were established. Cell viability was assessed by the trypan blue exclusion method (T), and the cell proliferation was measured by 3H-thymidine incorporation (3H-thy). P38 synthesis was quantitated by using 14C-methionine-labeled P38 (14C-P38) by using P38-specific antibody. SB203580 (SB), a selective inhibitor of p38 MAPK, was also used to test the specificity of P38 stimulation. Antinuclear staining (NS) studies were performed by DAPI. Statistical significance was established by student's t-test. We observed that VPA (1 mM) inhibited 10% fetal bovine serum (FBS)-stimulated cell proliferation (1.75 ± 0.37 vs. 3.25 ± 0.68 cells per 1 µl ± SEM, p < 0.05, n = 4). VPA also stimulated 14C-P38 synthesis in a dose-dependent manner. SB (30 µM) inhibited VPA (4 mM)-stimulated 14C-P38 synthesis (197.74 ± 41.17 vs. 425.89 ± 59.17, CPM ± SEM, p < 0.05, n = 4) and increased hRPE cell proliferation (1.79 ± 0.45 vs. 4.93 ± 1.12 cells per 1 µl ± SEM, p < 0.05, n = 4); NS demonstrated VPA-induced cell damage. We conclude that VPA inhibits hRPE cell growth via P38 MAP mechanism and may be of therapeutic value in treating or preventing proliferative eye diseases.


Assuntos
Sistema de Sinalização das MAP Quinases/efeitos dos fármacos , Epitélio Pigmentado da Retina/efeitos dos fármacos , Ácido Valproico/farmacologia , Núcleo Celular/efeitos dos fármacos , Proliferação de Células/efeitos dos fármacos , Células Cultivadas , Relação Dose-Resposta a Droga , Avaliação Pré-Clínica de Medicamentos , Indução Enzimática/efeitos dos fármacos , Humanos , Proteínas Quinases p38 Ativadas por Mitógeno/biossíntese , Proteínas Quinases p38 Ativadas por Mitógeno/genética
12.
Br J Ophthalmol ; 100(9): 1280-4, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-26969710

RESUMO

PURPOSE: To review the prevalence of preoperative and postoperative intorsion in patients with strabismus and Graves' eye disease (GED), and to correlate the intorsion with coexisting superior rectus (SR) and superior oblique (SO) muscle enlargement as a possible mechanism causing intorsion in these patients. METHODS: Charts of consecutive patients with GED who underwent strabismus surgery between 1 January 2010 and 1 April 2013 were retrospectively reviewed. Of these, patients with orbital CT or MRI scan were identified for further analysis. Clinical characteristics documented included age, gender, horizontal and vertical deviation, subjective torsional deviation, specific extraocular muscles (EOMs) operated upon, EOM enlargement on CT/MRI scans and width and thickness of SO, SR group and inferior rectus (IR). RESULTS: Charts of 45 patients (14 males and 31 females) were reviewed. Mean age was 56.8±12.5 years. Of these, seven (15.6%) patients demonstrated intorsion, and 38 (84.4%) patients demonstrated extorsion preoperatively. But after strabismus surgery, 15 (39.5%) of the 38 patients with preoperative extorsion demonstrated postoperative intorsion and 23 (60.5%) patients continued to show postoperative extorsion. On analysis of CT/MRI scans in these patients, only an increase in the thickness of SR group and the thickness/width of SO muscle were significantly associated with preoperative and postoperative intorsion; while age, gender, preoperative horizontal or vertical deviation and IR recession were unrelated to preoperative or postoperative intorsion. Postoperative intorsion was also associated with smaller degrees of preoperative extorsion (<3.5°). CONCLUSIONS: Preoperative SR and/or SO muscle enlargement appear to be a primary contributing factor relating to preoperative and postoperative intorsion in patients with GED-associated strabismus. Patients with only small amounts of preoperative extorsion (<3.5°) in the presence of tight IRs should be carefully evaluated for possible SR and/or SO involvement by CT or MRI scan to predict those at risk for and plan for prevention/treatment of postoperative intorsion.


Assuntos
Oftalmopatia de Graves/diagnóstico , Músculos Oculomotores/diagnóstico por imagem , Procedimentos Cirúrgicos Oftalmológicos/métodos , Complicações Pós-Operatórias , Estrabismo/cirurgia , Descompressão Cirúrgica , Feminino , Seguimentos , Oftalmopatia de Graves/complicações , Oftalmopatia de Graves/cirurgia , Humanos , Hipertrofia , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Músculos Oculomotores/cirurgia , Estudos Retrospectivos , Estrabismo/diagnóstico , Estrabismo/etiologia , Tomografia Computadorizada por Raios X
13.
Adv Exp Med Biol ; 854: 765-72, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26427487

RESUMO

Age-related macular degeneration (AMD) is a leading cause of legal blindness in developed countries. Several new drugs are now available to reduce the sight threatening complications of this disease, however, all are useful in only a small fraction of patients and none of them prevents disease development. An understanding of the pathogenesis of the retinal and macular degeneration is the first step in developing preventive and fully effective treatment options for this condition. Lifelong oxidative stress seems to be an etiologic factor. In this study, we used cultured human retinal pigment epithelial cells to study the mechanism of cell death and survival in cells exposed to oxidative stress. Our studies demonstrate that valproic acid (VPA), an epigenetic factor, reduces apoptosis in hRPE cells that were subjected to hydrogen peroxide-induced oxidative injury by alteration in P38 kinase activity. Since VPA has been shown to have therapeutic use in other neuronal diseases, better understanding of the mechanism of this VPA anti-apoptotic activity may enhance its development as a therapeutic agent.


Assuntos
Apoptose/efeitos dos fármacos , Células Epiteliais/efeitos dos fármacos , Peróxido de Hidrogênio/farmacologia , Epitélio Pigmentado da Retina/citologia , Ácido Valproico/farmacologia , Proteínas Quinases p38 Ativadas por Mitógeno/metabolismo , Proliferação de Células/efeitos dos fármacos , Sobrevivência Celular/efeitos dos fármacos , Células Cultivadas , Relação Dose-Resposta a Droga , Células Epiteliais/metabolismo , Humanos , Oxidantes/farmacologia , Estresse Oxidativo/efeitos dos fármacos , Espécies Reativas de Oxigênio/metabolismo
14.
Am J Ophthalmol ; 153(4): 602-8, 608.e1, 2012 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-22206805

RESUMO

PURPOSE: To evaluate the impact of full correction vs undercorrection on the magnitude of the myopic shift and postoperative visual acuity after unilateral intraocular lens (IOL) implantation in children. DESIGN: Retrospective case control study. METHODS: The medical records of 24 children who underwent unilateral cataract surgery and IOL implantation at 2 to <6 years of age were reviewed. The patients were divided into 2 groups based on their 1-month-postoperative refraction: Group 1 (full correction) -1.0 to +1.0 diopter (D) and Group 2 (undercorrection) ≥+2.0 D. The main outcome measures included the change in refractive error per year and visual acuity for the pseudophakic eyes at last follow-up visit. The groups were compared using the independent groups t test and Wilcoxon rank sum test. RESULTS: The mean age at surgery (Group 1, 4.2±0.9 years, n=12; Group 2, 4.5±1.0 years, n=12; P=.45) and mean follow-up (Group 1, 5.8±3.7 years; Group 2, 6.1±3.5 years; P=.69) were similar for the 2 groups. The change in refractive error (Group 1, -0.4±0.5 D/y; Group 2, -0.3±0.2 D/y; P=.70) and last median logMAR acuity (Group 1, 0.4; Group 2, 0.4; P=.54) were not significantly different between the 2 groups. CONCLUSIONS: We did not find a significant difference in the myopic shift or the postoperative visual acuity in children aged 2 to <6 years of age following unilateral cataract surgery and IOL implantation if the initial postoperative refractive error was near emmetropia or undercorrected by 2 diopters or more.


Assuntos
Implante de Lente Intraocular , Miopia/fisiopatologia , Pseudofacia/fisiopatologia , Acuidade Visual/fisiologia , Estudos de Casos e Controles , Extração de Catarata , Criança , Pré-Escolar , Seguimentos , Humanos , Período Pós-Operatório , Refração Ocular/fisiologia , Estudos Retrospectivos
15.
J AAPOS ; 14(6): 518-21, 2010 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-21147009

RESUMO

PURPOSE: To investigate the evolution of postoperative astigmatism after cataract extraction and lens implantation in children through a 6.5 mm limbal incision. METHODS: This is a retrospective longitudinal study of consecutive pediatric patients with adequate follow-up who underwent cataract extraction with intraocular lens implantation through a 6.5 mm limbal incision. Preoperative and 3-month postoperative astigmatism and spherical equivalent were compared. RESULTS: A total of 92 eyes of 73 children met the inclusion criteria. The mean cylindrical correction on the first postoperative day was 6.6 ± 2.3 D (range, 1.00-13.00 D). This dropped to 1.9 ± 1.7 D between 2 and 4 weeks and 1.2 ± 1.0 D (range, 0-3.25 D) by 3 months postoperatively. The mean spherical equivalent was +0.5 D on the first postoperative day and did not change significantly during the follow-up period. The mean astigmatism preoperatively (1.2 ± 0.8 D) and 3 months postoperatively (1.2 ± 1.0 D) were not statistically different (p = 0.9). There was no statistically significant change in astigmatism between 1 and 3 months and 1 and 2 years (p = 0.16, n = 33). CONCLUSIONS: Large cylindrical refractive errors after pediatric cataract surgery through a 6.5 mm limbal incision resolve postoperatively within 3 months.


Assuntos
Astigmatismo/fisiopatologia , Extração de Catarata , Implante de Lente Intraocular/efeitos adversos , Complicações Pós-Operatórias/fisiopatologia , Recuperação de Função Fisiológica , Adolescente , Astigmatismo/etiologia , Criança , Pré-Escolar , Progressão da Doença , Seguimentos , Humanos , Implante de Lente Intraocular/métodos , Polimetil Metacrilato , Complicações Pós-Operatórias/etiologia , Remissão Espontânea , Estudos Retrospectivos
16.
Adv Exp Med Biol ; 664: 419-28, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20238043

RESUMO

Age-related macular degeneration (AMD) is a major sight-threatening ocular disorder in the United States of America and the world, yet its etiology is not clearly understood, preventing the development of effective prevention or therapy. Connective tissue growth factor (CTGF) has been implicated in the pathological synthesis of peri-retinal fibrous tissue in patients with AMD. Very little is known about the mechanism of this interaction. In this study, the authors demonstrate that insulin like growth factor-1 (IGF-1) and glucose-stimulated CTGF production are not blocked by the MAP kinase pathway inhibitor, PD98059 in hRPE cells obtained from eyes of a patient with AMD in contrast to hRPE cells obtained from normal human eyes. This suggests that there may be abnormal CTGF synthesis regulation in AMD, which may play a role in fibrous peri-retinal membrane formation in patients with AMD-related proliferative vitreoretinopathy.


Assuntos
Fator de Crescimento do Tecido Conjuntivo/biossíntese , Células Epiteliais/metabolismo , Espaço Intracelular/metabolismo , Degeneração Macular/metabolismo , Retina/patologia , Epitélio Pigmentado da Retina/patologia , Transdução de Sinais , Radioisótopos de Carbono , Células Epiteliais/efeitos dos fármacos , Células Epiteliais/patologia , Fibrose , Flavonoides/farmacologia , Glucose/farmacologia , Humanos , Fator de Crescimento Insulin-Like I/farmacologia , Espaço Intracelular/efeitos dos fármacos , Degeneração Macular/patologia , Retina/efeitos dos fármacos , Retina/metabolismo , Transdução de Sinais/efeitos dos fármacos , Regulação para Cima/efeitos dos fármacos
17.
Curr Eye Res ; 34(10): 867-76, 2009 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-19895315

RESUMO

PURPOSE: To investigate the mitogenic activity of insulin-like growth factor-1 (IGF-1) on the proliferation of human retinal pigment epithelial cells (hRPE) and to elucidate the role of vascular endothelial growth factor (VEGF) and MAP kinase (MAPK) in the IGF-1 signaling cascade. METHODS: Human RPE specimens were obtained from postmortem non-pathological eyes and cultured in vitro through several passages. Cellular proliferation in the presence of increasing concentrations of IGF-1 and IGF-1 + PD98059 (a known MAPK inhibitor) was measured by [(3)H]thymidine incorporation; trypan blue exclusion studies (T) verified cell viability. Under the same experimental conditions, synthesis of VEGF was measured utilizing [(14)C]methionine immunoprecipitation and immunocytochemical methods as well as Western blot analysis. RESULTS: IGF-1 stimulated hRPE proliferation, as demonstrated by [(3)H]thymidine incorporation. There was also an IGF-1-induced increase in VEGF synthesis as measured quantitatively by [(14)C]methionine-VEGF immunoprecipitation. This was qualitatively confirmed by immunocytochemistry and Western blotting. PD98059 suppressed both IGF-1-induced cell proliferation as well as IGF-1-stimulated VEGF production. CONCLUSIONS: These studies suggest that IGF-1 is a mitogen for hRPE cells and also stimulates production of the angiogenic factor, VEGF. Additionally, PD98059 inhibits the production of VEGF, suggesting that the MAP kinase pathway is involved in IGF-1-mediated angiogenesis.


Assuntos
Proliferação de Células/efeitos dos fármacos , Fator de Crescimento Insulin-Like I/metabolismo , Epitélio Pigmentado da Retina/metabolismo , Técnicas de Cultura de Células , Sobrevivência Celular/efeitos dos fármacos , Relação Dose-Resposta a Droga , MAP Quinases Reguladas por Sinal Extracelular/metabolismo , Flavonoides/farmacologia , Regulação da Expressão Gênica/efeitos dos fármacos , Humanos , Fator de Crescimento Insulin-Like I/administração & dosagem , Sistema de Sinalização das MAP Quinases/efeitos dos fármacos , Neovascularização Fisiológica/efeitos dos fármacos , Epitélio Pigmentado da Retina/citologia , Epitélio Pigmentado da Retina/efeitos dos fármacos , Fator A de Crescimento do Endotélio Vascular/biossíntese , Fator A de Crescimento do Endotélio Vascular/genética , Vitreorretinopatia Proliferativa/metabolismo
18.
Pediatr Clin North Am ; 55(6): 1403-15, x, 2008 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19041466

RESUMO

Abnormal or failed development of vision in children may give rise to varying degrees of visual impairment and disability. Disease and organ-specific mechanisms by which visual impairments arise are presented. The presentation of these mechanisms, along with an explanation of established pathologic processes and correlative up-to-date clinical and social research in the field of pediatrics, ophthalmology, and rehabilitation medicine are discussed. The goal of this article is to enhance the practitioner's recognition and care for children with developmental disability associated with visual impairment.


Assuntos
Deficiências do Desenvolvimento/complicações , Baixa Visão , Visão Ocular/fisiologia , Criança , Deficiências do Desenvolvimento/fisiopatologia , Deficiências do Desenvolvimento/reabilitação , Avaliação da Deficiência , Humanos , Prognóstico , Baixa Visão/etiologia , Baixa Visão/fisiopatologia , Baixa Visão/reabilitação
19.
J AAPOS ; 12(2): 173-6, 2008 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-18423341

RESUMO

PURPOSE: To examine the relationship between axial length and keratometry measurement errors and intraocular lens (IOL) power calculations for pediatric eyes. METHODS: The sensitivity of IOL power calculation to errors in axial length and keratometry measurements was computed as a function of axial length and keratometry for the SRK II, Hoffer Q, Holladay I, SRK/T, and Haigis formulas. RESULTS: The sensitivity of the IOL power calculation to an axial length measurement error is increased at 4 to 14 D/mm error in axial length in children compared with 3 to 4 D/mm error in axial length in adults. The error in calculation is 0.8 to 1.3 D/D error in keratometry measurement for both children and adults. CONCLUSIONS: Axial length measurement errors in pediatric eyes may lead to large errors in IOL power calculations.


Assuntos
Córnea/anatomia & histologia , Implante de Lente Intraocular , Lentes Intraoculares , Adulto , Pré-Escolar , Olho/crescimento & desenvolvimento , Humanos , Lactente , Implante de Lente Intraocular/métodos , Valor Preditivo dos Testes , Sensibilidade e Especificidade , Resultado do Tratamento
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