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1.
Retin Cases Brief Rep ; 14(4): 364-367, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-29443807

RESUMEN

PURPOSE: To report multimodal imaging in a novel case of angioid streaks in a patient with Turner syndrome with 10-year follow-up. METHODS: Case report of a patient with Turner syndrome and angioid streaks followed at Bellevue Hospital Eye Clinic from 2007 to 2017. Fundus photography, fluorescein angiography, and optical coherence tomography angiography were obtained. RESULTS: Angioid streaks with choroidal neovascularization were noted in this patient with Turner syndrome without other systemic conditions previously correlated with angioid streaks. CONCLUSION: We report a case of angioid streaks with choroidal neovascularization in a patient with Turner syndrome. We demonstrate that angioid streaks, previously associated with pseudoxanthoma elasticum, Ehlers-Danlos syndrome, Paget disease of bone, and hemoglobinopathies, may also be associated with Turner syndrome, and may continue to develop choroidal neovascularization, suggesting the need for careful ophthalmic examination in these patients.


Asunto(s)
Estrías Angioides/diagnóstico , Estrías Angioides/etiología , Neovascularización Coroidal/etiología , Síndrome de Turner/complicaciones , Inhibidores de la Angiogénesis/uso terapéutico , Estrías Angioides/tratamiento farmacológico , Bevacizumab/uso terapéutico , Neovascularización Coroidal/diagnóstico , Neovascularización Coroidal/tratamiento farmacológico , Femenino , Angiografía con Fluoresceína , Estudios de Seguimiento , Humanos , Inyecciones Intravítreas , Imagen Multimodal , Tomografía de Coherencia Óptica , Factor A de Crecimiento Endotelial Vascular/antagonistas & inhibidores , Agudeza Visual , Adulto Joven
3.
Ophthalmology ; 123(7): 1541-52, 2016 07.
Artículo en Inglés | MEDLINE | ID: mdl-27084564

RESUMEN

PURPOSE: To define the phenotypic characteristics of the bullous variant of central serous chorioretinopathy (CSC) using multimethod imaging. DESIGN: Retrospective, observational case series. PARTICIPANTS: Twenty-one eyes of 14 patients with bullous retinal detachment resulting from CSC (bullous CSC group) and 122 eyes of 84 patients with chronic CSC without bullous retinal detachment (nonbullous CSC group). METHODS: We performed a retrospective review of clinical and multimethod imaging data of patients who sought treatment from the authors with bullous retinal detachment resulting from CSC between January 2010 and November 2015. Multimethod imaging comprised color photography, fluorescein angiography, fundus autofluorescence, and high-resolution optical coherence tomography. Consecutive cases of chronic CSC without bullous retinal detachment, seen during the same period, comprised a comparative group. MAIN OUTCOME MEASURES: Qualitative and quantitative characteristics of the choroid, retinal pigment epithelium, and retina were compared between the 2 groups. RESULTS: Mean age of the bullous CSC group was 53.8 years. There was no difference in age, visual acuity, corticosteroid use, or the proportion of white patients and men between the 2 groups (all P > 0.132). Peripheral nonperfusion occurred only in eyes with bullous retinal detachment (38% of cases). Retinal pigment epithelial tears were seen in 95% of eyes in the bullous group and none of the eyes in the nonbullous CSC group. The bullous CSC group demonstrated a greater number of pigment epithelial detachments (PEDs) and more eyes demonstrated PEDs with internal hyperreflectivity (both P < 0.016). Mean subfoveal choroidal thickness in the bullous CSC group (463.1±83.1 µm) was not different compared with that of the nonbullous CSC group (400.6±100.6 µm; P = 0.993). More eyes in the bullous CSC group demonstrated hyperreflectivity around large choroidal vessels and at the level of the choriocapillaris on OCT (P < 0.001). Retinal folds and subretinal fibrin were identified in a greater proportion of eyes in the bullous CSC group (both P < 0.001). CONCLUSIONS: Bullous retinal detachment is a rare manifestation of chronic CSC and is characterized by a unique constellation of phenotypic and multimethod imaging features.


Asunto(s)
Coriorretinopatía Serosa Central/patología , Adulto , Anciano , Coriorretinopatía Serosa Central/diagnóstico por imagen , Femenino , Angiografía con Fluoresceína , Humanos , Masculino , Persona de Mediana Edad , Imagen Multimodal , Imagen Óptica/métodos , Fotograbar , Retina/diagnóstico por imagen , Retina/patología , Desprendimiento de Retina/diagnóstico por imagen , Desprendimiento de Retina/patología , Estudios Retrospectivos , Tomografía de Coherencia Óptica/métodos
4.
Open Ophthalmol J ; 7: 48-53, 2013 Sep 06.
Artículo en Inglés | MEDLINE | ID: mdl-24082979

RESUMEN

PURPOSE: To report one year outcomes of focal Navigated Retina Laser Therapy (NAVILAS) for diabetic macular edema (DME). METHODS: Retrospective cohort series of 7 diabetic patients treated with NAVILAS focal laser. Statistical analysis included descriptive and continuous variables (Best-corrected logMAR Visual Acuity and time-domain optical coherence tomography (OCT) parameters) which were compared using a non-parametric procedure, the Friedman tests for repeated measures. A p-value of less than 0.05 was considered to denote statistical significance. RESULTS: diabetic patients (4 male; 3 female) with an average age of 60.8 years (range 48-85 years) were included. All treated eyes were phakic; patients had an average hemoglobin A1C of 9.1 (range 7.8-11.7) at baseline and 8.0 (range 7.4-8.4) at 12 months. Six of the 7 patients had intravitreal bevacizumab injections prior to focal laser treatment with 1 patient having had more than 1 prior injection (total 3). At 12 months, median logMAR improved from 0.695 (± interquartile range 0.574) to 0.477 (± 0.573, p <0.001). OCT median central foveal thickness decreased from 248 (± 112) to 220 µm (± 41, p <0.001); total macular volume decreased from 7.84 (± 0.8) to 7.44 mm3 (± 0.7, p = 0.117); and largest macular subfield thickness decreased from 354 (± 116) to 289 µm (± 42, p <0.001). All patients were treated without complications. CONCLUSIONS: Focal NAVILAS showed to be safe and effective in treating DME with improvement in visual acuity and macular edema on OCT over 12 months in this case series. In clinical practice, combined treatment with focal laser including NAVILAS and anti-vascular endothelial growth factor may provide long-term improvement in DME.

5.
Retina ; 33(3): 559-65, 2013 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-23042101

RESUMEN

PURPOSE: To investigate the posterior segment in cases of clinically evident intraocular inflammation for punctate reflections consistent with that expected to arise from inflammatory cells. METHODS: Patients with ocular inflammatory diseases imaged with spectral-domain optical coherence tomography (SD-OCT) were retrospectively reviewed. RESULTS: There were 7 patients with mean age of 66.7 years, and the diagnosis was toxoplasmosis in 5 eyes, multiple evanescent white dot syndrome in 1 eye, and posttraumatic outer retinitis in 1 eye. At baseline, the SD-OCT showed vitreous cells as numerous punctate spots in the vitreous in all seven eyes. The SD-OCT also showed similar-sized hyperreflective dots in the retina in all seven eyes. During follow-up, reduced vitreous cellular infiltration was correlated with a decrease in the number of the punctate spots visible by SD-OCT. CONCLUSION: Eyes with intraocular inflammation had SD-OCT images of the vitreous containing punctate spots of a size consistent with that expected from inflammatory cells. Similarly sized punctate spots were seen within the retina in regions of retinitis. Additional characterization of the optical section should permit stereological estimations of actual cell counts per unit volume.


Asunto(s)
Oftalmopatías/diagnóstico , Macrófagos/patología , Tomografía de Coherencia Óptica , Uveítis Posterior/diagnóstico , Cuerpo Vítreo/patología , Anciano , Anciano de 80 o más Años , Coriorretinitis/diagnóstico , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Toxoplasmosis Ocular/diagnóstico
7.
Ophthalmic Genet ; 32(2): 97-100, 2011 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-21366429

RESUMEN

PURPOSE: To describe the retinal imaging findings in the index patient with Heimler syndrome (OMIM #234580). DESIGN: Non-interventional case report. METHODS: A 29-year-old woman with Heimler syndrome developed bilateral vision loss. Fluorescein angiography (FA), fundus autofluorescence (FAF), spectral domain optical coherence tomography (SD-OCT) and electroretinography (ERG) were performed to assess the retinal anatomy and function. RESULTS: FA showed mottling of the retinal pigment epithelium (RPE) in the posterior pole and periphery of the retina. FAF revealed hyper and hypoautofluorescent dots corresponding to the RPE mottling observed on FA. SD-OCT documented loss of the inner/outer segments boundary, and RPE thinning. ERG testing excluded generalized rod-cone dysfunction. CONCLUSION: We report an adult-onset macular dystrophy in one of the previously reported patients with Heimler syndrome and hypothesize that this syndrome is probably an expression of a ciliopathy.


Asunto(s)
Degeneración Macular/etiología , Adulto , Amelogénesis Imperfecta/complicaciones , Amelogénesis Imperfecta/diagnóstico , Ceguera , Electrorretinografía , Femenino , Angiografía con Fluoresceína , Pérdida Auditiva Sensorineural/complicaciones , Pérdida Auditiva Sensorineural/diagnóstico , Humanos , Degeneración Macular/diagnóstico , Uñas Malformadas/complicaciones , Uñas Malformadas/diagnóstico , Epitelio Pigmentado de la Retina/patología , Tomografía de Coherencia Óptica , Agudeza Visual
8.
Ophthalmic Genet ; 32(2): 80-2, 2011 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-21391811

RESUMEN

PURPOSE: To investigate the association of the rs2301995 haplotype-tagging single nucleotide polymorphism (htSNP) in the elastin gene (ELN) with polypoidal choroidal vasculopathy (PCV) in European-American patients. METHODS: Association analysis of allele and genotype frequencies, determined by TaqMan assays, was performed for the rs2301995 haplotype-tagging single nucleotide polymorphism (htSNP) in the ELN locus in fifty-six patients with PCV, 368 patients with advanced age-related macular degeneration (AMD) and 368 age- and ethnically-matched unaffected controls. RESULTS: The ELN rs2301995 SNP was not statistically significantly associated with the PCV phenotype (P = 0.9). The frequency of the minor allele of the rs2301995 SNP was practically identical in the PCV, AMD and control groups (6.3% vs. 5.4% vs. 7.1%). CONCLUSION: The PCV phenotype in European-American patients is not associated with rs2301995 SNP in the ELN locus.


Asunto(s)
Enfermedades de la Coroides/genética , Coroides/irrigación sanguínea , Elastina/genética , Enfermedades Vasculares Periféricas/genética , Polimorfismo de Nucleótido Simple , Población Blanca/genética , Anciano , Genotipo , Humanos , Degeneración Macular/genética
9.
Am J Ophthalmol ; 149(6): 939-946.e1, 2010 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-20378094

RESUMEN

PURPOSE: To explore whether monthly intravitreal ranibizumab injections are associated with a lower rate of new choroidal neovascularization (CNV) in fellow eyes of patients with unilateral neovascular age-related macular degeneration. DESIGN: Retrospective data analysis of randomized, controlled clinical trials. METHODS: Incidence of new CNV in fellow eyes was calculated at 12 and 24 months from 2 clinical trials (the Minimally Classic/Occult Trial of the Anti-VEGF Antibody Ranibizumab in the Treatment of Neovascular Age-Related Macular Degeneration [MARINA] study and the Anti-VEGF Antibody for the Treatment of Predominantly Classic Choroidal Neovascularization in Age-Related Macular Degeneration [ANCHOR] study), based on fluorescein angiographic reading center criteria and investigator evaluation. Patients treated with monthly ranibizumab (0.3 and 0.5 mg) were compared with those receiving a sham injection (MARINA) or photodynamic therapy (ANCHOR). RESULTS: In MARINA, new CNV developed in fellow eyes in 20.3% of the 0.3-mg ranibizumab group by 12 months and in 30.4% by 24 months. The conversion rate in the 0.5-mg ranibizumab group was 21.1% and 38.0% by 12 and 24 months, respectively. In the sham group, 26.4% converted by 12 months and 36.3% converted by 24 months. In ANCHOR, fellow eyes in 15.9% of the 0.3-mg ranibizumab group converted by 12 months and fellow eyes in 23.8% converted by 24 months. The conversion rate in the 0.5-mg ranibizumab group was 24.3% and 35.1% by 12 and 24 months, respectively. In the photodynamic therapy group, 25.4% converted by 12 months and 38.8% converted by 24 months. Differences in conversion rates at 12 and 24 months between the 0.3-mg or 0.5-mg ranibizumab groups and respective controls (sham or photodynamic therapy) were not statistically significant. CONCLUSIONS: Results of this study do not support the hypothesis that monthly ranibizumab injections reduce the rate of CNV development in untreated fellow eyes.


Asunto(s)
Inhibidores de la Angiogénesis/uso terapéutico , Anticuerpos Monoclonales/uso terapéutico , Neovascularización Coroidal/tratamiento farmacológico , Neovascularización Coroidal/epidemiología , Fotoquimioterapia , Anciano , Anticuerpos Monoclonales Humanizados , Neovascularización Coroidal/diagnóstico , Femenino , Angiografía con Fluoresceína , Humanos , Incidencia , Inyecciones , Degeneración Macular/diagnóstico , Degeneración Macular/tratamiento farmacológico , Degeneración Macular/epidemiología , Masculino , Fármacos Fotosensibilizantes/uso terapéutico , Porfirinas/uso terapéutico , Ranibizumab , Retratamiento , Estudios Retrospectivos , Tomografía de Coherencia Óptica , Verteporfina , Agudeza Visual/fisiología , Cuerpo Vítreo
10.
Am J Ophthalmol ; 148(1): 70-8.e1, 2009 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-19403115

RESUMEN

PURPOSE: To describe a neovascular pattern associated with treatment-refractory neovascular age-related macular degeneration (AMD). DESIGN: A retrospective observational case series. SETTING: Clinical practice. PATIENT POPULATION: Twelve eyes of 12 patients with neovascular AMD in which a poor anatomic response to anti-vascular endothelial growth factor (VEGF) therapy was related to polypoidal choroidal vasculopathy (PCV). OBSERVATION PROCEDURE: Slit-lamp biomicroscopy, optical coherence tomography, fluorescein and indocyanine green angiography. MAIN OUTCOME MEASURES: Snellen visual acuity (VA), anatomic response to therapy including presence or absence of retinal edema, hemorrhage, and lipid exudates. RESULTS: New or persistent PCV was identified in a cohort of patients demonstrating increasing macular exudation despite regular intravitreal ranibizumab (Lucentis; Genentech Inc, South San Francisco, California, USA) or bevacizumab (Avastin; Genentech Inc) injections for a minimum of 6 months. Treatment with verteporfin photodynamic therapy (PDT), PDT/anti-VEGF combination therapy, or continued anti-VEGF monotherapy resulted in complete resolution of exudation in 9 of 12 patients and partial resolution of exudation in the remaining 3 patients. CONCLUSION: Treatment-refractory neovascular AMD may harbor vascular abnormalities such as PCV. Modifications in therapeutic protocols may be indicated in order to improve visual and anatomic outcomes in this population.


Asunto(s)
Coroides/irrigación sanguínea , Neovascularización Coroidal/etiología , Degeneración Macular/etiología , Enfermedades Vasculares Periféricas/complicaciones , Anciano , Anciano de 80 o más Años , Inhibidores de la Angiogénesis/uso terapéutico , Neovascularización Coroidal/diagnóstico , Neovascularización Coroidal/tratamiento farmacológico , Colorantes , Terapia Combinada , Resistencia a Medicamentos , Femenino , Angiografía con Fluoresceína , Humanos , Verde de Indocianina , Degeneración Macular/diagnóstico , Degeneración Macular/tratamiento farmacológico , Masculino , Persona de Mediana Edad , Enfermedades Vasculares Periféricas/diagnóstico , Enfermedades Vasculares Periféricas/tratamiento farmacológico , Fotoquimioterapia , Fármacos Fotosensibilizantes/uso terapéutico , Porfirinas/uso terapéutico , Estudios Retrospectivos , Tomografía de Coherencia Óptica , Factor A de Crecimiento Endotelial Vascular/antagonistas & inhibidores , Verteporfina , Agudeza Visual/fisiología
11.
Am J Ophthalmol ; 148(1): 79-82.e2, 2009 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-19327744

RESUMEN

PURPOSE: To evaluate vitreomacular relations in different stages of age-related macular degeneration (AMD) without the influence of genetics and environmental factors. DESIGN: Retrospective, observational case series. METHODS: This was a multicenter study consisting of 29 previously untreated subjects with active exudative (wet) AMD in one eye and active nonexudative (dry) AMD in the fellow eye who were compared with 10 previously untreated subjects with end-stage geographic atrophy in one eye and an end-stage fibrotic (disciform) scar in the fellow eye. All subjects were studied with ultrasonography to identify the presence of posterior vitreous detachment (PVD) and by optical coherence tomography to detect vitreomacular adhesion (VMA). RESULTS: The incidence of PVD in eyes with nonexudative AMD was 20 (69%) of 29, compared with 6 (21%) of 29 with active exudative AMD (P = .002). VMA was present in 11 (38%) of 29 of eyes with exudative AMD and in only 3 (10%) of 29 eyes with nonexudative AMD (P = .008). The incidence of PVD in geographic atrophy was 7 (70%) of 10, compared with 4 (40%) of 10 with disciform scar (P = .44). VMA was present in 2 (20%) of 10 eyes with disciform scars and in 0 (0%) of 10 eyes with geographic atrophy (P = .48). CONCLUSIONS: PVD may protect against exudative AMD, whereas VMA may promote exudative AMD. This phenomenon is not evident in end-stage disease because of an increased incidence of PVD and a decreased incidence of VMA in eyes with disciform scars. Genetic and environmental factors do not seem to influence these observations.


Asunto(s)
Mácula Lútea/patología , Degeneración Macular/complicaciones , Cuerpo Vítreo/patología , Desprendimiento del Vítreo/etiología , Anciano , Anciano de 80 o más Años , Neovascularización Coroidal/etiología , Exudados y Transudados , Femenino , Angiografía con Fluoresceína , Humanos , Incidencia , Mácula Lútea/diagnóstico por imagen , Degeneración Macular/diagnóstico , Masculino , Degeneración Retiniana/complicaciones , Estudios Retrospectivos , Adherencias Tisulares , Tomografía de Coherencia Óptica , Ultrasonografía , Cuerpo Vítreo/diagnóstico por imagen , Desprendimiento del Vítreo/diagnóstico por imagen
12.
Arch Ophthalmol ; 127(1): 71-5, 2009 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-19139342

RESUMEN

OBJECTIVE: To describe the phenotypes of 5 patients with NR2E3 mutations. METHODS: Two patients with familial and 3 with sporadic early-onset nyctalopia and retinal pigment abnormalities were screened for mutations in the NR2E3 gene (OMIM 604485). The clinical course, fundus features, visual field test results, and fluorescein angiographic and electrophysiologic findings were compared. RESULTS: Three different mutations in NR2E3 were identified: R311Q and 2 novel mutations--missense change Q350R and an in-frame deletion of phenylalanine at position 71 (delF71) in exon 2. Three patients who were homozygous for R311Q had posterior subcapsular cataracts and a concentric ring of round pigment clumps. Electroretinograms were extinguished. A fourth patient, a 24-year-old man who was heterozygotic for R311Q and Q350R, had Goldmann-Favre syndrome. A fifth patient, a 10-year-old boy with heterozygotic mutations R311Q and delF71, had diminished foveal reflexes and subtle pigmentary changes, perhaps a forme fruste of Goldmann-Favre syndrome. Both of these patients had an identical spectral electroretinographic pattern characteristic of enhanced S-cone syndrome. CONCLUSIONS: Molecular genetic testing is essential for establishing the correct diagnosis in patients with NR2E3 mutations because of the variable phenotype associated with these degenerations. Two novel NR2E3 mutations are described that are associated with Goldmann-Favre syndrome and enhanced S-cone syndrome.


Asunto(s)
Proteínas del Ojo/genética , Mutación del Sistema de Lectura , Mutación Missense , Receptores Citoplasmáticos y Nucleares/genética , Degeneración Retiniana/genética , Factores de Transcripción/genética , Adulto , Catarata/diagnóstico , Catarata/genética , Niño , Análisis Mutacional de ADN , Electrorretinografía , Angiografía con Fluoresceína , Humanos , Masculino , Persona de Mediana Edad , Ceguera Nocturna/diagnóstico , Ceguera Nocturna/genética , Receptores Nucleares Huérfanos , Fenotipo , Reacción en Cadena de la Polimerasa , Células Fotorreceptoras Retinianas Conos/patología , Degeneración Retiniana/diagnóstico , Epitelio Pigmentado de la Retina/patología , Opsinas de Bastones/genética , Síndrome , Trastornos de la Visión/diagnóstico , Trastornos de la Visión/genética , Campos Visuales
13.
Retin Cases Brief Rep ; 3(2): 118-20, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-25391051

RESUMEN

PURPOSE: To report the long-term follow-up of a case of enhanced S-cone syndrome (ESCS). METHODS: Retrospective chart review. RESULTS: The patient was misdiagnosed with atypical retinitis pigmentosa at 17 years of age. Twenty-seven years of follow-up showed slow deterioration but relative preservation of vision. The most striking clinical feature was the formation of a ring of heavy round pigment clumping around the vascular arcades. Electroretinogram was reported as extinguished in advanced stages of the condition. Genetic testing revealed the most common mutation of the NR2E3 gene reported in the Goldmann-Favre syndrome/ESCS entity. CONCLUSION: Visual acuity can be relatively preserved over the course of ESCS. In advanced stages, genetic testing can be a valuable diagnostic tool.

14.
Retin Cases Brief Rep ; 3(2): 224-7, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-25391082

RESUMEN

PURPOSE: To report a case of bullous retinal detachment complicated by peripheral retinal ischemia and neovascularization in a patient with chronic central serous chorioretinopathy (CSC). RESULTS: Focal laser photocoagulation to the active retinal pigment epithelial leaks in the posterior pole resulted in resolution of the bullous detachment and regression of the retinal neovascularization. CONCLUSIONS: Patients with chronic CSC and a large, dependent serous detachment with peripheral retinal ischemia and neovascularization may be managed by focal treatment to active pigment epithelial leaks alone. This could spare patients of the adverse effects associated with widespread laser treatment and reduce the risk of visual loss due to vitreous hemorrhage and/or more severe complications resulting from progressive retinal ischemia.

15.
Invest Ophthalmol Vis Sci ; 49(9): 3806-11, 2008 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-18502988

RESUMEN

PURPOSE: To investigate the prevalence of sequence variants in the ATM gene and to determine the frequency of major age-related macular degeneration (AMD)-associated variants in CFH, CFB, and 10q26 loci in patients with idiopathic perifoveal telangiectasia (IPT). METHODS: Thirty patients with diagnoses of IPT underwent standard ophthalmologic evaluation that included visual acuity testing, fundus photography, and fluorescein angiography. DNA was screened for variations in the ATM gene by a combination of denaturing high-performance liquid chromatography and direct sequencing. Major AMD-associated alleles in CFH, CFB, and 10q loci were screened by PCR-restriction fragment-length polymorphism. RESULTS: Nineteen female and 11 male patients (average age, 59 years) with a median visual acuity of 20/50 were evaluated. Six patients were of Asian-Indian origin, one was Hispanic, and 23 were of European-American ancestry. Nine of 30 (30%) patients had diabetes mellitus, 18 of 30 (60%) patients had hypertension, and 12 of 30 (40%) patients had a history of smoking. Screening of the ATM gene revealed a null allele in 2 of 23 (8.7%) patients of European ancestry, previously disease-associated missense alleles in 4 of 23 (17.4%) patients, and common missense alleles in 7 of 23 (30.4%) patients. No variants were identified in the ATM gene in patients of Asian or Hispanic origin. Frequencies of major AMD-associated alleles in CFH, CFB, and 10q loci in the IPT cohort were similar to those in the ethnically matched general population. CONCLUSIONS: At least 26%, and maybe up to 57%, of IPT patients of European-American descent carried possibly disease-associated ATM alleles. Vascular risk factors such as hypertension, diabetes, and smoking may be associated with the pathogenesis of the disease.


Asunto(s)
Ataxia Telangiectasia/genética , Proteínas de Ciclo Celular/genética , Proteínas de Unión al ADN/genética , Variación Genética , Proteínas Serina-Treonina Quinasas/genética , Proteínas Supresoras de Tumor/genética , Adulto , Anciano , Ataxia Telangiectasia/diagnóstico por imagen , Ataxia Telangiectasia/patología , Proteínas de la Ataxia Telangiectasia Mutada , Femenino , Fóvea Central/diagnóstico por imagen , Fóvea Central/patología , Humanos , Mácula Lútea/diagnóstico por imagen , Mácula Lútea/patología , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Radiografía , Agudeza Visual
16.
Retina ; 28(2): 201-11, 2008 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-18301024

RESUMEN

BACKGROUND: Retinal angiomatous proliferation (RAP) is a distinct form of neovascularization in patients with age-related macular degeneration. Lacking definitive sequential histopathologic evidence of its intraretinal versus choroidal origin, the clinical observations of early stages of RAP lesions may provide clues to help further expand our understanding of this entity. METHODS: Five eyes of four patients with early Stage 1 RAP were examined. Fundus photography, fluorescein and indocyanine green angiography as well as time-domain and spectral-domain optical coherence tomography were performed. Images were assessed to determine the characteristics of neovascularization in early stage RAP lesions and the response of the lesions to treatment or observation. RESULTS: The analysis of the selected cases suggests a choroidal origin of the neovascular complex with the early formation of a retinal choroidal anastomosis without evidence of underlying occult Type 1 neovascularization. Three eyes responded to a single treatment with intravitreal ranibizumab (0.5 mg) and 2 eyes (1 patient) resolved spontaneously without treatment. CONCLUSION: The neovascularization in RAP may originate not only from deep retinal capillaries but also from the choroid. We therefore propose the more descriptive term "Type 3 neovascularization" for this entity to emphasize the intraretinal location of the vascular complex and distinguish this type from the two types of neovascularization previously described by J. Donald Gass in his classic text.


Asunto(s)
Fístula Arteriovenosa/diagnóstico , Coroides/irrigación sanguínea , Neovascularización Retiniana/diagnóstico , Vasos Retinianos/anomalías , Anciano , Anciano de 80 o más Años , Anticuerpos Monoclonales/uso terapéutico , Anticuerpos Monoclonales Humanizados , Fístula Arteriovenosa/tratamiento farmacológico , Colorantes , Femenino , Angiografía con Fluoresceína , Fondo de Ojo , Humanos , Verde de Indocianina , Inyecciones , Degeneración Macular/diagnóstico , Degeneración Macular/tratamiento farmacológico , Masculino , Ranibizumab , Neovascularización Retiniana/clasificación , Neovascularización Retiniana/tratamiento farmacológico , Vasos Retinianos/patología , Tomografía de Coherencia Óptica , Agudeza Visual , Cuerpo Vítreo
17.
Invest Ophthalmol Vis Sci ; 49(1): 364-71, 2008 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-18172114

RESUMEN

PURPOSE: To determine whether variants in the candidate genes TLR4, CCL2, and CCR2 are associated with age-related macular degeneration (AMD). METHODS: This study was performed in two independent Caucasian populations that included 357 cases and 173 controls from the Netherlands and 368 cases and 368 controls from the United States. Exon 4 of the TLR4 gene and the promoter, all exons, and flanking intronic regions of the CCL2 and CCR2 genes were analyzed in the Dutch study and common variants were validated in the U.S. study. Quantitative (q)PCR reactions were performed to evaluate expression of these genes in laser-dissected retinal pigment epithelium from 13 donor AMD and 13 control eyes. RESULTS: Analysis of single nucleotide polymorphisms (SNPs) in the TLR4 gene did not show a significant association between D299G or T399I and AMD, nor did haplotypes containing these variants. Univariate analyses of the SNPs in CCL2 and CCR2 did not demonstrate an association with AMD. For CCR2, haplotype frequencies were not significantly different between cases and controls. For CCL2, one haplotype containing the minor allele of C35C was significantly associated with AMD (P = 0.03), but this did not sustain after adjustment for multiple testing (q = 0.30). Expression analysis did not demonstrate altered RNA expression of CCL2 and CCR2 in the retinal pigment epithelium from AMD eyes (for CCL2 P = 0.62; for CCR2 P = 0.97). CONCLUSIONS: No evidence was found of an association between TLR4, CCR2, and CCL2 and AMD, which implies that the common genetic variation in these genes does not play a significant role in the etiology of AMD.


Asunto(s)
Quimiocina CCL2/genética , Degeneración Macular/genética , Receptores CCR2/genética , Receptor Toll-Like 4/genética , Adulto , Anciano , Anciano de 80 o más Años , Alelos , Análisis Mutacional de ADN , Exones/genética , Femenino , Haplotipos , Humanos , Degeneración Macular/diagnóstico , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Polimorfismo de Nucleótido Simple , Población Blanca/genética
18.
Ophthalmic Genet ; 28(4): 192-7, 2007 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-18161617

RESUMEN

PURPOSE: The etiology and genetic cause of pseudo-vitelliform macular detachment with cuticular drusen (PVMD/CD) are unknown; nor is it clear if this phenotype represents a separate disease entity, or is a sub-phenotype of disorders with overlapping clinical presentation. To answer this question, we screened a cohort of patients affected with PVMD/CD for variation in six plausible candidate genes (ABCA4, VMD2, TIMP-3, peripherin/RDS, fibulin 5 (FIBL5) and complement factor H (CFH)) associated with diseases of overlapping phenotypes. METHODS: Twenty-eight patients, diagnosed with pseudo-vitelliform macular detachment and cuticular drusen, were evaluated by clinical examination, fundus photography, fluorescein angiography and autofluorescence imaging. DNA from all study subjects were screened for variants in the ABCA4, VMD2, TIMP-3, peripherin/RDS, FIBL5 and CFH genes by a combination of DHPLC, array screening and direct sequencing. RESULTS: All patients presented with cuticular drusen; pseudo-vitelliform detachment was seen in 21 cases, while atrophic changes following regression of the detachment were seen in the remaining 7 subjects. Visual acuity ranged from 20/20 to CF. The screening revealed an I32V mutation in peripherin/RDS in one patient and 2ABCA4 variants, T897I and G1961E, in 2 more patients. No amino acid-altering variants were detected in VMD2, TIMP-3, and FIBL5 genes. The frequency of the CFH Y402H variant in this cohort corresponded to that detected in the general population. CONCLUSIONS: Screening of 6 candidate genes detected possibly disease-associated mutations in only 3/28 (10.7%) of patients presenting with PVMD/CD, eliminating these genes as causal for this phenotype.


Asunto(s)
Mácula Lútea/patología , Desprendimiento de Retina/genética , Drusas Retinianas/genética , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad
19.
Retina ; 27(8): 1101-6, 2007 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-18040253

RESUMEN

PURPOSE: To compare noninvasive autofluorescence (AF) photography with conventional fundus photography and fluorescein angiography (FA) in the detection of basal laminar drusen (BLD). METHODS: A retrospective case review of 20 patients with BLD studied with AF and conventional imaging was performed. Three selected patients with different degrees of BLD are presented. AF imaging employed an excitation filter at 580 nm and a barrier filter at 695 nm with acquisition by a Topcon 50X fundus camera. Corresponding detail regions in each image were enlarged for comparison. The AF detail image was registered by a projective transformation in Matlab (Mathworks 7.0, Natick, MA) with the color photograph/red free photograph (RF) and/or FA image detail for exact superimposition in Photoshop and lesion comparison. RESULTS: Each visible drusen in the color or RF photograph corresponded when superimposed to a focal hypoautofluorescent lesion in the AF image. However, similar to the starry sky pattern in FA, the AF lesions significantly outnumbered the clinically evident drusen. When BLD lesions were not advanced enough to show the classic starry sky fluorescein hyperfluorescence, the BLD were detectable with AF. CONCLUSIONS: In our case series, AF imaging demonstrated a higher level of sensitivity when compared with conventional fundus photography and is less invasive than FA for the detection of BLD. Fundus AF, therefore, is valuable for diagnosing and following BLD, particularly since these patients are at risk for development of pseudovitelliform detachment which may simulate CNV.


Asunto(s)
Lámina Basal de la Coroides/patología , Drusas Retinianas/diagnóstico , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Angiografía con Fluoresceína , Fluorescencia , Humanos , Masculino , Persona de Mediana Edad , Fotograbar , Estudios Retrospectivos
20.
Compr Ophthalmol Update ; 8(3): 155-67, 2007.
Artículo en Inglés | MEDLINE | ID: mdl-17651545

RESUMEN

Pregnancy can cause multiple physiologic and non-physiologic changes throughout the body; the eye is no exception. Ocular changes during pregnancy can be physiologic or pathologic, or these changes can be an effect of a pre-existing condition. While many of theses changes are reversible, some may lead to lasting visual impairment. The aim of this review is to give an overview of the currently available literature on ocular changes during pregnancy.


Asunto(s)
Oftalmopatías/etiología , Presión Intraocular/fisiología , Complicaciones del Embarazo , Refracción Ocular/fisiología , Visión Ocular/fisiología , Oftalmopatías/fisiopatología , Femenino , Humanos , Embarazo , Factores de Riesgo
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