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1.
Telemed J E Health ; 30(2): 341-353, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-37585566

RESUMEN

Background: The current medical scenario is closely linked to recent progress in telecommunications, photodocumentation, and artificial intelligence (AI). Smartphone eye examination may represent a promising tool in the technological spectrum, with special interest for primary health care services. Obtaining fundus imaging with this technique has improved and democratized the teaching of fundoscopy, but in particular, it contributes greatly to screening diseases with high rates of blindness. Eye examination using smartphones essentially represents a cheap and safe method, thus contributing to public policies on population screening. This review aims to provide an update on the use of this resource and its future prospects, especially as a screening and ophthalmic diagnostic tool. Methods: In this review, we surveyed major published advances in retinal and anterior segment analysis using AI. We performed an electronic search on the Medical Literature Analysis and Retrieval System Online (MEDLINE), EMBASE, and Cochrane Library for published literature without a deadline. We included studies that compared the diagnostic accuracy of smartphone ophthalmoscopy for detecting prevalent diseases with an accurate or commonly employed reference standard. Results: There are few databases with complete metadata, providing demographic data, and few databases with sufficient images involving current or new therapies. It should be taken into consideration that these are databases containing images captured using different systems and formats, with information often being excluded without essential detailing of the reasons for exclusion, which further distances them from real-life conditions. The safety, portability, low cost, and reproducibility of smartphone eye images are discussed in several studies, with encouraging results. Conclusions: The high level of agreement between conventional and a smartphone method shows a powerful arsenal for screening and early diagnosis of the main causes of blindness, such as cataract, glaucoma, diabetic retinopathy, and age-related macular degeneration. In addition to streamlining the medical workflow and bringing benefits for public health policies, smartphone eye examination can make safe and quality assessment available to the population.


Asunto(s)
Retinopatía Diabética , Telemedicina , Humanos , Inteligencia Artificial , Teléfono Inteligente , Reproducibilidad de los Resultados , Retinopatía Diabética/diagnóstico , Telemedicina/métodos , Ceguera
2.
Cardiol Young ; 26(3): 477-84, 2016 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-25904230

RESUMEN

BACKGROUND: CHDs form a complex and heterogeneous group of clinical entities, with high morbidity and mortality. With the advancement of surgical and invasive techniques and clinical treatment, the survival of these patients has increased significantly, and there are reports of a high prevalence of ocular abnormalities in this group. The objective of this study was to estimate the prevalence of ocular findings in children and adolescents diagnosed with CHD. METHODS: A systematic search was conducted in the following databases: MEDLINE (via PubMed), EMBASE, and Cochrane CENTRAL, in addition to a manual search on studies published on the patient, from inception until August, 2014. Observational studies assessing the prevalence of ocular abnormalities in children and adolescents with CHDs were included. RESULTS: Of the 2413 articles identified, eight were included, comprising a total of 1061 patients. Among them, the lowest and highest prevalences observed were 6.3 and 65%, respectively. The weighted average prevalence of ocular abnormalities was 32.5% (CI95% 19.3-49.3). Strabismus, cataracts, and retinopathy were the most frequently observed alterations. CONCLUSION: The prevalence of ocular abnormalities in children and adolescents with CHDs was 32.5%, demonstrating that ocular consequences are not uncommon in this population and may have relevant clinical impact. These results reinforce the need for ophthalmological evaluation of patients with CHDs.


Asunto(s)
Anomalías del Ojo/epidemiología , Cardiopatías Congénitas/complicaciones , Adolescente , Niño , Humanos , Estudios Observacionales como Asunto
3.
BMC Ophthalmol ; 14: 163, 2014 Dec 23.
Artículo en Inglés | MEDLINE | ID: mdl-25539893

RESUMEN

BACKGROUND: Studies show great variability in the prevalence of hyperopia among children. This study aimed to synthesize the existing knowledge about hyperopia prevalence and its associated factors in school children and to explore the reasons for this variability. METHODS: This systematic review followed PRISMA guidelines. Searching several international databases, the review included population- or school-based studies assessing hyperopia through cycloplegic autorefraction or cycloplegic retinoscopy. Meta-analysis of hyperopia prevalence was performed following MOOSE guidelines and using the random effects model. RESULTS: The review included 40 cross-sectional studies. The prevalence of hyperopia ranged from 8.4% at age six, 2-3% from 9 to 14 years and approximately 1% at 15 years. With regard to associated factors, age has an inverse association with hyperopia. The frequency of hyperopia is higher among White children and those who live in rural areas. There is no consensus about the association between hyperopia and gender, family income and parental schooling. CONCLUSION: Future studies should use standardized methods to classify hyperopia and sufficient sample size when evaluating age-specific prevalence. Furthermore, it is necessary to deepen the understanding about the interactions among hyperopic refractive error and accommodative and binocular functions as a way of identifying groups of hyperopic children at risk of developing visual, academic and even cognitive function sequelae.


Asunto(s)
Hiperopía/epidemiología , Adolescente , Distribución por Edad , Niño , Preescolar , Estudios Transversales , Humanos , Prevalencia , Factores de Riesgo , Distribución por Sexo
4.
Eur J Ophthalmol ; 34(2): 357-366, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37113027

RESUMEN

Retinitis pigmentosa (RP) is a group of inherited rod-cone dystrophies, noted for a high genotypical and phenotypical heterogeneity.Traditionally, VA, visual field, and electroretinography have been used to assess RP progression. However, visual acuity and visual field tests are essentially subjective and, especially in the late stages of the disease, are unable to confidently reveal minor progression. Therefore, there is a need for novel examination modalities that rely on quantitative, structural measurements. In this regard, several non-invasive imaging techniques have been studied, including spectral-domain optical coherence tomography, optical coherence tomography angiography, and fundus autofluorescence. By correlating surrogate biomarkers with functional measurements of the disease, these techniques may be able to develop reliable outcome meters that can be used to gain a deeper understanding of the underlying causes of the disease and to assess the effectiveness of therapy even before an actual loss of vision occurs.In this review, we will summarize the recent imaging findings and biomarkers that have been identified in RP patients. Our goal is to provide information that can promptly aid in selecting patients for clinical trials and new gene therapies, monitoring the disease progression, and evaluating treatment outcomes.


Asunto(s)
Retinitis Pigmentosa , Humanos , Retinitis Pigmentosa/diagnóstico por imagen , Retinitis Pigmentosa/genética , Electrorretinografía , Campos Visuales , Tomografía de Coherencia Óptica , Biomarcadores , Imagen Multimodal , Retina
5.
Eur J Ophthalmol ; 34(1): 39-51, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36972471

RESUMEN

Best Vitelliform Macular Dystrophy (BVMD) is a dominantly inherited retinal disease caused by dominant variants in the BEST1 gene. The original classification of BVMD is based on biomicroscopy and color fundus photography (CFP); however, advancements in retinal imaging provided unique structural, vascular, and functional data and novel insights on disease pathogenesis. Quantitative fundus autofluorescence studies informed us that lipofuscin accumulation, the hallmark of BVMD, is unlikely to be a primary effect of the genetic defect. It could be due to a lack of apposition between photoreceptors and retinal pigment epithelium in the macula with subsequent accumulation of shed outer segments over time. Optical Coherence Tomography (OCT) and adaptive optics imaging revealed that vitelliform lesions are characterized by progressive changes in the cone mosaic corresponding to a thinning of the outer nuclear layer and then disruption of the ellipsoid zone, which are associated with a decreased sensitivity and visual acuity. Therefore, an OCT staging system based on lesion composition, thus reflecting disease evolution, has been recently developed. Lastly, the emerging role of OCT Angiography proved a greater prevalence of macular neovascularization, the majority of which are non-exudative and develop in late disease stages. In conclusion, effective diagnosis, staging, and clinical management of BVMD will likely require a deep understanding of the multimodal imaging features of this disease.


Asunto(s)
Mácula Lútea , Distrofia Macular Viteliforme , Humanos , Distrofia Macular Viteliforme/diagnóstico por imagen , Distrofia Macular Viteliforme/genética , Retina/patología , Epitelio Pigmentado de la Retina/patología , Mácula Lútea/patología , Tomografía de Coherencia Óptica/métodos , Angiografía con Fluoresceína/métodos , Imagen Multimodal , Bestrofinas/genética
6.
Eur J Ophthalmol ; 33(4): NP80-NP84, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-35607265

RESUMEN

PURPOSE: To describe the clinical characteristics of two patients affected by extensive macular atrophy with pseudodrusen-like (EMAP). METHODS: Two patients affected by EMAP underwent multimodal imaging, including fundus autofluorescence and optical coherence tomography. RESULTS: The patients showed the typical clinical appearance with macular atrophy with larger vertical axis surrounded by pseudodrusen-like deposits involving the midperiphery, associated with paving stone lesions in the retinal periphery. CONCLUSION: EMAP is a complex condition sharing clinical characteristics of age-related macular degeneration. Further studies are warranted to identify the early biomarker of the disease.


Asunto(s)
Atrofia Geográfica , Degeneración Macular , Drusas Retinianas , Humanos , Atrofia , Angiografía con Fluoresceína , Fondo de Ojo , Atrofia Geográfica/diagnóstico , Atrofia Geográfica/complicaciones , Degeneración Macular/complicaciones , Degeneración Macular/diagnóstico , Retina , Drusas Retinianas/diagnóstico , Tomografía de Coherencia Óptica/métodos
7.
Case Rep Ophthalmol Med ; 2023: 5670538, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37035523

RESUMEN

Purpose: To describe the results of an intravitreal dexamethasone implant in managing autoimmune retinopathy (AIR). Methods: Two patients affected by AIR underwent intravitreal dexamethasone implantation and were followed by ocular coherence tomography, visual fields, and electroretinography. Results: The patients showed an interruption of the functional losses and remained stable with semestral injections. Conclusion: AIR is a complex condition with no standard treatment. The use of dexamethasone could be a valid option.

8.
Artículo en Inglés | MEDLINE | ID: mdl-38111841

RESUMEN

Fournier gangrene is a disease characterized by necrotizing fasciitis of the perineal and genital region, resulting from synergistic polymicrobiotic infection. Most infections can be localized to a cutaneous, urethral, or rectal source and can culminate in a fulminant sepsis. Current state of the art is systemic broad-spectrum antibiotics and serial aggressive debridement which result in superficial perineal defect of wide dimensions. We compiled all the cases of Fournier gangrene that required reconstruction after debridement in Centro Hospitalar Universitário Lisboa Central from 2018 to 2022. Inclusion criteria were reconstruction for Fournier defects and patients' age 18 to 90 years old. Exclusion criteria were patients who didn't require reconstruction or didn't complete it due to death or transfer to another healthcare institution. Reconstructive procedures and complication rates are reported as whole numbers and percentages of total. The initial search yielded 32 patients. There were 2 (6.2%) patients with defects that healed by secondary intention, 6 (18.7%) with delayed primary closure, 4 (12.5%) with implantation of the testicle in a medial thigh pocket, 12 (37.5%) with skin grafts, 4 (12.5%) with scrotal advancement flaps, 2 (6.2%) with flaps, and 2 (6.2%) with flaps and skin grafts in combination. Four outcomes were evaluated: number of patients, defect size, method of reconstruction, and wound-healing complications. Most reconstructive techniques provide reliable coverage and protection of testicular function with an acceptable cosmetic result. The reconstructive options need to be patient tailored in order to achieve long lasting results with a minimum of postoperative morbidity.

9.
Ophthalmol Sci ; 3(2): 100267, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-36824600

RESUMEN

Purpose: To identify the vascular biomarkers of peripheral capillary nonperfusion in patients affected by naive central retinal vein occlusion (CRVO), and to analyze their changes over the follow-up. Study Design: Consecutive prospective case series with a planned follow-up of 2 years. Participants: Thirty-five patients affected by CRVO and 35 healthy gender- and age-matched subjects were enrolled in the study. Methods: Ophthalmic examination included best corrected visual acuity (BCVA), ultrawidefield fluorescein angiography (UWFFA), OCT, and OCT angiography (OCTA). Main Outcome Measures: Vessel density (VD) at the superficial capillary plexus and deep capillary plexus (DCP) were calculated on OCTA images. The ischemic index (ISI) was calculated on UWFFA. Results: The mean baseline ISI was 37%, increasing to 40% at the end of the follow-up, whereas it was 4.9% in the patients' fellow eyes and 4.5% in the control group with no change over the follow-up. OCT angiography revealed VD reduction in the DCP, considering both 3 × 3 mm and 12 × 12 mm scans. The correlation analyses revealed that DCP VD was the only parameter showing a statistically significant correlation with the foveal avascular zone (FAZ) area, BCVA, and ISI. Conclusions: Deep capillary plexus VD impairment is detectable in all CRVO cases, variably involving both the central retina (with enlarged FAZ) and the periphery (with VD reduction in the peripheral retina). The severity of DCP VD reduction has correlates with various clinical markers. Deep capillary plexus VD may represent a crucial biomarker to characterize CRVO, and further studies are necessary to identify the cutoff thresholds for the different clinical manifestations.

10.
Ophthalmol Retina ; 7(5): 431-440, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-36503161

RESUMEN

OBJECTIVE: To estimate the incidence and risk factors of visual impairment and complications in eyes with macular neovascularization (MNV) because of angioid streaks (ASs). DESIGN: Longitudinal multicenter retrospective cohort study. SUBJECTS: Patients with AS-associated MNV treated with anti-VEGF agents and a follow-up of > 3 months. METHODS: Clinical and MNV characteristics were collected at baseline. Visual acuity (VA) values and the presence of atrophy or fibrosis were collected at each visit. MAIN OUTCOME MEASURES: Rate of VA change over time and associated factors; the incidence rate of moderate-to-severe visual impairment (MSVI) and blindness and hazard ratio (HR) of candidate risk factors for MSVI; the incidence rate of fibrosis and macular atrophy. RESULTS: Overall, 84 eyes of 66 patients (39 men, 58%) with a mean (standard deviation) age of 55.7 (13.8) years were followed for a mean (standard deviation) of 67.7 (48.5) months. The median number of anti-VEGF doses per eye was 13. The average rate (95% confidence interval [CI]) of visual loss was +0.04 (0.02-0.06) logarithm of the minimum angle of resolution/year (P < 0.001); the visual loss was faster in nonnaive eyes (P = 0.007) and those with better baseline VA (P < 0.001); it was slower in eyes with pattern dystrophy-like features (P = 0.04). The incidence rates (95% CI) of MSVI and blindness were 10.4 (6.88-15)/100-eye-years and 2.33 (1.12-4.29)/100-eye-years. A higher number of injections (HR [95% CI] = 0.45 [0.19-0.94] for receiving ≥ 13 injections vs. < 13; P = 0.03) was protective against MSVI. The incidence rates (95% CI) of fibrosis and macular atrophy were 24.1 (17.5-32.3)/100-eye-years and 14.3 (10.1-19.6)/100-eye-years. CONCLUSIONS: Eyes with MNV-related AS had a high rate of visual impairment and propensity to macular fibrosis and atrophy. A higher number of injections yielded better chances of maintaining good VA, suggesting the need for intensive treatment. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found after the references.


Asunto(s)
Estrías Angioides , Degeneración Macular , Baja Visión , Masculino , Humanos , Persona de Mediana Edad , Estrías Angioides/complicaciones , Estrías Angioides/diagnóstico , Estrías Angioides/epidemiología , Incidencia , Estudios Retrospectivos , Neovascularización Patológica , Degeneración Macular/complicaciones , Ceguera/epidemiología , Ceguera/etiología , Factores de Riesgo , Fibrosis
11.
Eur J Ophthalmol ; 31(3): 1497-1506, 2021 May.
Artículo en Inglés | MEDLINE | ID: mdl-33307777

RESUMEN

Retinal vessel tortuosity has been used in the diagnosis and management of different clinical situations. Notwithstanding, basic concepts, standards and tools of measurement, reliable normative data and clinical applications have many gaps or points of divergence. In this review we discuss triggering causes of retinal vessel tortuosity and resources used to assess and quantify it, as well as current limitations.


Asunto(s)
Retina , Vasos Retinianos , Humanos
12.
Curr Drug Targets ; 21(12): 1181-1193, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32342813

RESUMEN

Retinal vein occlusion (RVO) is one of the most prevalent causes of visual loss in the Western World. Its pathogenesis is still not completely known. Chronic macular edema and ischemia compromise the functional and anatomical status of the retina. Antivascular endothelial growth factor (anti-VEGF) injections have demonstrated better results than other previous options, including observation or laser therapy. This narrative review aims to analyze the current aspects related to these drugs.


Asunto(s)
Oclusión de la Vena Retiniana/tratamiento farmacológico , Factor A de Crecimiento Endotelial Vascular/antagonistas & inhibidores , Inhibidores de la Angiogénesis/uso terapéutico , Bevacizumab/uso terapéutico , Humanos , Edema Macular/tratamiento farmacológico , Edema Macular/etiología , Ensayos Clínicos Controlados Aleatorios como Asunto , Ranibizumab/uso terapéutico , Receptores de Factores de Crecimiento Endotelial Vascular/uso terapéutico , Proteínas Recombinantes de Fusión/uso terapéutico , Oclusión de la Vena Retiniana/clasificación , Oclusión de la Vena Retiniana/etiología
13.
Pharmaceuticals (Basel) ; 14(1)2020 Dec 30.
Artículo en Inglés | MEDLINE | ID: mdl-33396886

RESUMEN

Central serous chorioretinopathy is characterized by an idiopathic neurosensory detachment of the retina. This narrative review aims to discuss the classification system used for central serous chorioretinopathy. Based on our current knowledge, there is no universally adopted classification system. This is the result of the unknown aspects related to pathogenesis and clinical spectrum and evolution. The best option could be to aggregate multimodal pieces of information alongside temporal and phenotypic characteristics.

14.
J Orthop Case Rep ; 10(9): 19-22, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-34169011

RESUMEN

INTRODUCTION: Osteomyelitis of the hand is a rare entity and almost always occurs after catastrophic injuries. Streptococcus anginosus is a part of the normal microbial flora of the oral cavity and the gastrointestinal tract. It is frequently associated with purulent infections in several anatomic locations but rarely harms bony structures. The occurrence of osteomyelitis of the hand caused by this microorganism is very unusual. CASE REPORT: We report the clinical case of a 58-year-old Caucasian male, ex-smoker, with a medical history of a chronic hepatitis C virus infection, liver cirrhosis, and diabetes mellitus that developed extensive osteomyelitis of the middle and distal phalanx of his right ring finger caused by S. anginosus and needed amputation for infection control. He had suffered a cut with a steel grinder on that finger 2 weeks before coming to the emergency department. He was also had been submitted to a dental procedure (tooth extraction) the exact day before the trauma. We believe that the most likely origin of the osteomyelitis was a transient bacteremia caused by the dental procedure that led to hematogenous seeding of several oral commensal microbes, including S. anginosus, that ended up infecting an area with low immune capacity due to the trauma. CONCLUSION: S. anginosus causes purulent infections in multiple locations and affects more often immunocompromised patients, especially those with cirrhosis and diabetes mellitus. Even though it is not often associated with osteomyelitis, we should have a high level of suspicion if the patient has an intraoral disease or a history of dental or gastrointestinal procedures. The infection is severe, often leading to the need for radical debridements.

15.
Middle East Afr J Ophthalmol ; 27(1): 28-33, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32549721

RESUMEN

OBJECTIVE: The objective of the study was to asses ocular findings' prevalence in children with primary congenital heart disease (CHD). PATIENTS AND METHODS: This is a prospective cross-sectional study of children with CHD treated at a specialized center in the South of Brazil between 2013 and 2015. They underwent a complete ocular examination, including measurement of visual acuity, refraction test, external motility, anterior and posterior biomicroscopy, and binocular indirect fundoscopy with retinal photographs. Two experienced examiners independently assessed fundus findings: one at the time of examination and image capture, while the other assessed only the captured images. RESULTS: Of a total of 146 children examined, 124 were included in this analysis (16% loss). Seventy children were male (55.5%). The average age was 9.3 years (minimum 1 month and maximum 15 years). Caucasians race were 81.2%, African Descendants race were 11.1%, and others were 7.7%. About 57.1% had already had heart surgery. About 14.8% had visual acuity below 0.6 and 2.8% below 0.1. Strabismus was found in 7.4% and cataracts in 1.7%. Retinal alterations were recognized in 13.5%, of which 4.8% were related to vascular narrowing or dilation and/or abnormal arteriovenous crossing; 7.14% were related to increased vascular tortuosity, while 1.6% were related to active toxoplasmic chorioretinitis lesions. Concomitant abnormalities in ocular motility, biomicroscopy, or ophthalmoscopy were detected in 24% of the cases. CONCLUSION: Children under the age of 15 years old with primary CHD have a high prevalence of ocular alterations, with external ocular and retinal manifestations, with higher occurrence rate among cyanotic cases. This leads us to strongly recommend the performance of a complete ophthalmological examination in such cases.


Asunto(s)
Catarata/etiología , Cardiopatías Congénitas/complicaciones , Trastornos de la Motilidad Ocular/etiología , Enfermedades de la Retina/etiología , Estrabismo/etiología , Adolescente , Catarata/diagnóstico , Niño , Preescolar , Estudios Transversales , Femenino , Fondo de Ojo , Humanos , Lactante , Masculino , Trastornos de la Motilidad Ocular/diagnóstico , Oftalmoscopía , Estudios Prospectivos , Refracción Ocular/fisiología , Enfermedades de la Retina/diagnóstico , Estrabismo/diagnóstico , Agudeza Visual/fisiología
16.
Case Rep Dermatol Med ; 2019: 2380598, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30805223

RESUMEN

BACKGROUND: Ophthalmic findings in mycosis fungoides (MF) can be highly variable. It seems that the prevalence of ophthalmic findings could be much more common than previously assumed. OBJECTIVE: To present case series examined in the last 12 months, together with a literature review. METHODS: Symptomatic patients with biopsy-proven mycosis fungoides were examined ophthalmologically in a 12-month period. The medical records of affected patients were reviewed. RESULTS: Eight patients were examined. Of these, 75% were male, all were Caucasian, and average age was 58.2 years. Blepharitis (50.0%), thickened eyelids (37.5%), and flaking (25.0%) were the most prevalent findings. CONCLUSION: Incidence of MF affecting the eyes and surrounding structures may be greater than estimated. Early case management offers means to reduce difficulties experienced with later diagnosis. Regular monitoring by an ophthalmologist is justified, including that of asymptomatic cases.

17.
Clin Ophthalmol ; 12: 2581-2589, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30587904

RESUMEN

BACKGROUND: Smartphone fundoscopy is a new option for visualizing the ocular fundus but must be validated before being included in population-based examinations. Our aim was to evaluate the quality of fundoscopic images obtained via smartphone and to compare their agreement with retinal camera images or clinical examination. METHODS: The database for this study included all observational studies with smartphone fundoscopy that have comparative analyses with the gold standard methods. RESULTS: Out of 121 potentially relevant studies, nine were included in this analysis, comprising a total of 4,219 eyes. Mean age was 56.6 years (SD±8.5). Combined kappa (κ) agreement statistics were equal to 77.77% (95% CI: 70.34%, 83.70%). No heterogeneity was measured by random effects (I 2=zero). CONCLUSION: Fundoscopic images obtained by using smartphones have substantial agreement with gold standards for clinical or photographic exams.

18.
Int Med Case Rep J ; 11: 339-344, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30538586

RESUMEN

OBJECTIVE: To describe, in a multimodal way, a new RHO gene mutation with lysine-for-asparagine substitution in autosomal dominant retinitis pigmentosa. METHODS: Case report. Retrospective data analysis. RESULTS: The mutation is located within codon 15 of exon 1 of the RHO gene. A single base-pair transversion lead to a specific lysine-for-asparagine substitution (Asn15Lys). Hypoacusis, myopia, dyschromatopsis and diffuse retinitis pigmentosa were detected. Detailed multimodal images for the posterior segment are presented. CONCLUSION: We present a new mutation with a specific substitution that may cause eye disease and which has not been described previously. There is no description of this variant in the genetic databases.

19.
Arq Bras Cardiol ; 110(1): 84-90, 2018 Jan.
Artículo en Inglés, Portugués | MEDLINE | ID: mdl-29538527

RESUMEN

BACKGROUND: Numerous genetic syndromes associated with heart disease and ocular manifestations have been described. However, a compilation and a summarization of these syndromes for better consultation and comparison have not been performed yet. OBJECTIVE: The objective of this work is to systematize available evidence in the literature on different syndromes that may cause congenital heart diseases associated with ocular changes, focusing on the types of anatomical and functional changes. METHOD: A systematic search was performed on Medline electronic databases (PubMed, Embase, Cochrane, Lilacs) of articles published until January 2016. Eligibility criteria were case reports or review articles that evaluated the association of ophthalmic and cardiac abnormalities in genetic syndrome patients younger than 18 years. RESULTS: The most frequent genetic syndromes were: Down Syndrome, Velo-cardio-facial / DiGeorge Syndrome, Charge Syndrome and Noonan Syndrome. The most associated cardiac malformations with ocular findings were interatrial communication (77.4%), interventricular communication (51.6%), patent ductus arteriosus (35.4%), pulmonary artery stenosis (25.8%) and tetralogy of Fallot (22.5%). CONCLUSION: Due to their clinical variability, congenital cardiac malformations may progress asymptomatically to heart defects associated with high morbidity and mortality. For this reason, the identification of extra-cardiac characteristics that may somehow contribute to the diagnosis of the disease or reveal its severity is of great relevance.


Asunto(s)
Oftalmopatías/complicaciones , Enfermedades Genéticas Congénitas/complicaciones , Cardiopatías Congénitas/complicaciones , Cardiopatías Congénitas/diagnóstico , Humanos , Síndrome
20.
Open Ophthalmol J ; 11: 273-285, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-29081867

RESUMEN

BACKGROUND: The ocular effects of obesity and hypertension need to be established and can be used as prognostic markers. OBJECTIVE: To estimate the prevalence of ophthalmological alterations in children and adolescents who are overweight and/or have SAH. METHODS: The database for this study included all observational studies (CS, cohort, case-control and "baseline" description of randomized clinical trials) with children and/or adolescents who were overweight, obese or had SAH and that measured ophthalmological alterations. RESULTS: Comparative studies with healthy children demonstrated positive association between body adiposity with retinal venular dilation, and SAH with retinal arteriolar narrowing. Different retinal fundus cameras and computer-assisted programs to evaluate the retinal vessels, variations in the methods of analysis, adjustments, populations, were the main arguments against formal meta-analysis. The heterogeneity was too high (I2 >90%, in fixed or randomized effects), and the lack of linearity, normal distribution and homoscedasticity did not recommend meta-regression. CONCLUSION: Obesity and SAH show associations with ophthalmological alterations, especially with retinal vessel diameter. Lack of standardization does not allow a quantitative evaluation.

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