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1.
Telemed J E Health ; 30(2): 341-353, 2024 Feb.
Article in English | MEDLINE | ID: mdl-37585566

ABSTRACT

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.


Subject(s)
Diabetic Retinopathy , Telemedicine , Humans , Artificial Intelligence , Smartphone , Reproducibility of Results , Diabetic Retinopathy/diagnosis , Telemedicine/methods , Blindness
2.
Eur J Ophthalmol ; 34(2): 357-366, 2024 Mar.
Article in English | MEDLINE | ID: mdl-37113027

ABSTRACT

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.


Subject(s)
Retinitis Pigmentosa , Humans , Retinitis Pigmentosa/diagnostic imaging , Retinitis Pigmentosa/genetics , Electroretinography , Visual Fields , Tomography, Optical Coherence , Biomarkers , Multimodal Imaging , Retina
3.
Eur J Ophthalmol ; 34(1): 39-51, 2024 Jan.
Article in English | MEDLINE | ID: mdl-36972471

ABSTRACT

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.


Subject(s)
Macula Lutea , Vitelliform Macular Dystrophy , Humans , Vitelliform Macular Dystrophy/diagnostic imaging , Vitelliform Macular Dystrophy/genetics , Retina/pathology , Retinal Pigment Epithelium/pathology , Macula Lutea/pathology , Tomography, Optical Coherence/methods , Fluorescein Angiography/methods , Multimodal Imaging , Bestrophins/genetics
4.
Article in English | MEDLINE | ID: mdl-38111841

ABSTRACT

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.

5.
Case Rep Ophthalmol Med ; 2023: 5670538, 2023.
Article in English | MEDLINE | ID: mdl-37035523

ABSTRACT

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.

6.
Ophthalmol Sci ; 3(2): 100267, 2023 Jun.
Article in English | MEDLINE | ID: mdl-36824600

ABSTRACT

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.

7.
Eur J Ophthalmol ; 33(4): NP80-NP84, 2023 Jul.
Article in English | MEDLINE | ID: mdl-35607265

ABSTRACT

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.


Subject(s)
Geographic Atrophy , Macular Degeneration , Retinal Drusen , Humans , Atrophy , Fluorescein Angiography , Fundus Oculi , Geographic Atrophy/diagnosis , Geographic Atrophy/complications , Macular Degeneration/complications , Macular Degeneration/diagnosis , Retina , Retinal Drusen/diagnosis , Tomography, Optical Coherence/methods
8.
Ophthalmol Retina ; 7(5): 431-440, 2023 05.
Article in English | MEDLINE | ID: mdl-36503161

ABSTRACT

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.


Subject(s)
Angioid Streaks , Macular Degeneration , Vision, Low , Male , Humans , Middle Aged , Angioid Streaks/complications , Angioid Streaks/diagnosis , Angioid Streaks/epidemiology , Incidence , Retrospective Studies , Neovascularization, Pathologic , Macular Degeneration/complications , Blindness/epidemiology , Blindness/etiology , Risk Factors , Fibrosis
9.
Eur J Ophthalmol ; 31(3): 1497-1506, 2021 May.
Article in English | MEDLINE | ID: mdl-33307777

ABSTRACT

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.


Subject(s)
Retina , Retinal Vessels , Humans
10.
Rev. bras. oftalmol ; 80(6): e0051, 2021. tab, graf
Article in Portuguese | LILACS | ID: biblio-1351858

ABSTRACT

RESUMO Objetivo: Analisar o perfil clínico de pacientes em acompanhamento dermatológico encaminhados para avaliação oftalmológica. Métodos: A amostra foi composta de pacientes dermatológicos encaminhados para avaliação oftalmológica, nos anos de 2016 e de 2017. Estudou-se a concomitância de doenças dermatológicas com as afecções oftalmológicas por meio da coleta simultânea do histórico dermatológico (prontuários registrados com dados gerais e diagnóstico) e de dados da consulta oftalmológica após o encaminhamento. Resultados: Foram avaliados pela oftalmologia 224 pacientes, sendo 65% do sexo feminino, 80% caucasianos, com idade variando entre 1 mês e 85 anos. As situações cujo encaminhamento foi mais prevalente foram psoríase, lúpus, vitiligo e rosácea (18,3%, 13,8%, 12,9% e 10,7%, respectivamente). Fototerapia crônica e uso de hidroxicloroquina representaram 35,7% e 22,3% dos pacientes. Casos de neurofibromatose, micose fungoide, líquen plano, neoplasias de pele, atopias, pênfigo e esclerodermia também estiveram presentes. Cegueira legal foi detectada em 6%, e deficiências visuais ligadas a afecções dermatológicas foram verificadas em 16,5% dos casos. As alterações oculares mais prevalentes foram catarata (18,9%), blefarite (15,9%), pterígio (5,3%) e conjuntivite (5,3%). Conclusão: Encontrou-se elevada frequência de alterações oftalmológicas em uma população de pacientes com doenças dermatológicas. Assim, o estudo e a análise de manifestações oculares em pacientes dermatológicos podem auxiliar na detecção precoce e na prevenção de complicações.


ABSTRACT Objective: To analyze the clinical profile of patients under dermatological care and referred to ophthalmological evaluation. Methods: The sample comprised dermatology patients referred to ophthalmological evaluation in 2016 and 2017. The simultaneous occurrence of skin and ophthalmic diseases was studied, by collecting dermatological history (medical records containing general data and diagnosis) and ophthalmic consultation data following referral. Results: A total of 224 patients were assessed, 65% were female, 80% were white, and age varied between one month and 85 years. The conditions more often referred were psoriasis, lupus, vitiligo and rosacea (18.3%, 13.8%, 12.9% and 10.7%, respectively). Chronic phototherapy and use of hydroxychloroquine were observed in 35.7% and 22.3% of patients, respectively. Cases of neurofibromatosis, mycosis fungoides, lichen planus, skin cancer, atopic dermatitis, pemphigus and scleroderma were also reported. Legal blindness was detected in 6% and visual impairment related to skin conditions in 16.5% of patients. The most prevalent ocular changes were cataracts (18.9%), blepharitis (15.9%), pterygium (5.3%) and conjunctivitis (5.3%). Conclusion: A high frequency of ophthalmic changes in a population of dermatological patients was found. In this context, studying and analyzing ocular manifestations in dermatological patients could be useful in early detection and prevention of complications.


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Adult , Middle Aged , Aged , Aged, 80 and over , Skin Diseases/complications , Vision Disorders/etiology , Eye Diseases/etiology , Referral and Consultation , Skin Diseases/diagnosis , Skin Diseases/epidemiology , Vision Disorders/diagnosis , Vision Disorders/epidemiology , Brazil , Medical Records , Prevalence , Cross-Sectional Studies , Eye Diseases/diagnosis , Eye Diseases/epidemiology , Eye Manifestations
11.
Middle East Afr J Ophthalmol ; 27(1): 28-33, 2020.
Article in English | MEDLINE | ID: mdl-32549721

ABSTRACT

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.


Subject(s)
Cataract/etiology , Heart Defects, Congenital/complications , Ocular Motility Disorders/etiology , Retinal Diseases/etiology , Strabismus/etiology , Adolescent , Cataract/diagnosis , Child , Child, Preschool , Cross-Sectional Studies , Female , Fundus Oculi , Humans , Infant , Male , Ocular Motility Disorders/diagnosis , Ophthalmoscopy , Prospective Studies , Refraction, Ocular/physiology , Retinal Diseases/diagnosis , Strabismus/diagnosis , Visual Acuity/physiology
12.
Curr Drug Targets ; 21(12): 1181-1193, 2020.
Article in English | MEDLINE | ID: mdl-32342813

ABSTRACT

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.


Subject(s)
Retinal Vein Occlusion/drug therapy , Vascular Endothelial Growth Factor A/antagonists & inhibitors , Angiogenesis Inhibitors/therapeutic use , Bevacizumab/therapeutic use , Humans , Macular Edema/drug therapy , Macular Edema/etiology , Randomized Controlled Trials as Topic , Ranibizumab/therapeutic use , Receptors, Vascular Endothelial Growth Factor/therapeutic use , Recombinant Fusion Proteins/therapeutic use , Retinal Vein Occlusion/classification , Retinal Vein Occlusion/etiology
13.
J Orthop Case Rep ; 10(9): 19-22, 2020 Dec.
Article in English | MEDLINE | ID: mdl-34169011

ABSTRACT

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.

14.
Pharmaceuticals (Basel) ; 14(1)2020 Dec 30.
Article in English | MEDLINE | ID: mdl-33396886

ABSTRACT

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.

15.
Case Rep Dermatol Med ; 2019: 2380598, 2019.
Article in English | MEDLINE | ID: mdl-30805223

ABSTRACT

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.

16.
Clin Ophthalmol ; 12: 2581-2589, 2018.
Article in English | MEDLINE | ID: mdl-30587904

ABSTRACT

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.

17.
Int Med Case Rep J ; 11: 339-344, 2018.
Article in English | MEDLINE | ID: mdl-30538586

ABSTRACT

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.

18.
Arq Bras Cardiol ; 110(1): 84-90, 2018 Jan.
Article in English, Portuguese | MEDLINE | ID: mdl-29538527

ABSTRACT

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.


Subject(s)
Eye Diseases/complications , Genetic Diseases, Inborn/complications , Heart Defects, Congenital/complications , Heart Defects, Congenital/diagnosis , Humans , Syndrome
19.
Arq. bras. cardiol ; 110(1): 84-90, Jan. 2018. tab, graf
Article in English | LILACS | ID: biblio-887993

ABSTRACT

Abstract 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.


Resumo Fundamento: O número de síndromes genéticas descritas que apresentam alguma forma de cardiopatia e manifestações oculares associadas é grande. Contudo, estas síndromes ainda não foram reunidas e sintetizadas para melhor consulta e comparação. Objetivo: O objetivo deste trabalho é sistematizar a literatura, avaliando evidências disponíveis sobre síndromes que cursam com cardiopatia congênita associada a alterações oculares, salientando os tipos de alterações anatômicas e funcionais descritas. Métodos: Dois pesquisadores independentes fizeram uma busca sistemática utilizando as bases eletrônicas Medline (PubMed, Embase, Cochrane, Lilacs), de trabalhos publicados até o mês de janeiro de 2016. Os critérios de elegibilidade utilizados pelos autores incluíram somente artigos publicados sob a forma de relatos de caso ou revisão, que abordassem a associação de alterações oftalmológicas e cardiológicas em pacientes menores de 18 anos e que apresentassem alguma síndrome genética. Resultados: As síndromes genéticas mais frequentes foram: Síndrome de Down, Síndrome Velo-cardio-facial / DiGeorge, Síndrome de Charge e Síndrome de Noonan. Entre as malformações cardíacas, a comunicação interatrial (77,4%), a comunicação interventricular (51.6%), a persistência do canal arterial (35,4%), estenose da artéria pulmonar (25,8%) e a tetralogia de Fallot (22,5%) foram as mais associadas com achados oculares. Conclusão: Devido à sua variedade clínica, as malformações cardíacas congênitas revelam defeitos que evoluem de maneira assintomática até aqueles que provocam grande morbimortalidade. Dessa forma, encontrar características extra-cardíacas que, de alguma maneira, possam auxiliar no diagnóstico da doença ou revelar a gravidade dessa enfermidade tornam-se de grande relevância.


Subject(s)
Humans , Eye Diseases/complications , Heart Defects, Congenital/complications , Genetic Diseases, Inborn/complications , Syndrome , Heart Defects, Congenital/diagnosis
20.
Open Ophthalmol J ; 11: 273-285, 2017.
Article in English | MEDLINE | ID: mdl-29081867

ABSTRACT

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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