ABSTRACT
ABSTRACT Objective: A scientometric analysis produced in ophthalmic genetics and gene therapy research is lacking. The purpose of this study is to present a holistic analysis of ophthalmic genetics literature. Methods: The data used in this study were obtained from the Web of Science (WoS) Core Collection. All published documents between 1975-2019 were included. The data exported from WoS enabled the extensive details of ophthalmic genetics related literature including countries, institutions, authors, citations and keywords. Scientometric network maps of keywords and also country and institution co-authorships were created with free software. Global contributions of the countries to the ophthalmic genetics literature were shown by a graphic. Results: The search query revealed a total of 2322 documents. Most of the documents were original articles (75.75%). USA was the leading country by producing 45.39% of all documents in ophthalmic genetics research followed by UK, Germany, China and France. Pennsylvania University was the most contributing institution in the literature (5.25%) followed by University College London and Moorfields Eye Hospital. The average citations per item was 29.4. The most used keywords over a 40-year period were 'family', 'cell', 'photoreceptor' and 'expression'. Conclusions: USA and UK dominated the ophthalmic genetics research. A substantial increase in the number of published documents in this field were observed after 2010.
RESUMO Objetivo: A literatura carece de análise cienciométrica produzida em genética oftálmica e de pesquisa em terapia genética. O objetivo deste estudo é apresentar uma análise holística da literatura genética oftálmica. Métodos: Os dados utilizados neste estudo foram obtidos na base de dados Web of Science (WoS) Core Collection. Todos os documentos publicados entre 1975 e 2019 foram incluídos na análise. Os dados exportados da WoS viabilizaram acesso a amplos detalhes da literatura relacionada à genética oftálmica, incluindo países, instituições, autores, citações e palavras-chave. Mapas de rede cienciométrica foram criados por meio de software gratuito, com base em palavras-chave e em coautorias de países e instituições. As contribuições globais dos países para a literatura sobre genética oftálmica foram apresentadas em gráfico. Resultados: a busca por pesquisas revelou um total de 2.322 documentos cuja maioria eram artigos originais (75,75%). Os EUA foram o país que mais produziu artigos sobre o tema, com 45,39% de todos os documentos em pesquisa genética oftálmica; ele foi seguido pelo Reino Unido, Alemanha, China e França. A Universidade da Pensilvânia foi a instituição que mais contribuiu para a literatura (5,25%), e foi seguida pela University College London e pelo Moorfields Eye Hospital. A média de citações por item foi de 29,4. As palavras-chave mais usadas em um período de 40 anos foram 'família', 'célula', 'fotorreceptor' e 'expressão'. Conclusões: Os EUA e o Reino Unido dominaram a pesquisa em genética oftálmica. Após 2010, observou-se um aumento substancial no número de documentos publicados nessa área.
Subject(s)
Humans , Genetic Therapy , Bibliometrics , Eye Diseases, Hereditary , Eye Diseases/genetics , Eye Diseases/therapy , Ophthalmology/trends , Periodicals as Topic/trends , Periodicals as Topic/statistics & numerical data , Publications , Publishing/statistics & numerical data , Databases, Factual , Genomics/trends , Genetic ResearchABSTRACT
The advances in gene therapy hold significant promise for the treatment of ophthalmic conditions. Several studies using animal models have been published. Animal models on retinitis pigmentosa, Leber's Congenital Amaurosis [LCA], and Stargardt disease have involved the use of adeno-associated virus [AAV] to deliver functional genes into mice and canines. Mice models have been used to show that a mutation in cGMP phosphodiesterase that results in retinitis pigmentosa can be corrected using rAAV vectors. Additionally, rAAV vectors have been successfully used to deliver ribozyme into mice with a subsequent improvement in autosomal dominant retinitis pigmentosa. By using dog models, researchers have made progress in studying X-linked retinitis pigmentosa which results from a RPGR gene mutation. Mouse and canine models have also been used in the study of LCA. The widely studied form of LCA is LCA2, resulting from a mutation in the gene RPE65. Mice and canines that were injected with normal copies of RPE65 gene showed signs such as improved retinal pigment epithelium transduction, visual acuity, and functional recovery. Studies on Stargardt disease have shown that mutations in the ABCA4 gene can be corrected with AAV vectors, or nanoparticles. Gene therapy for the treatment of red-green color blindness was successful in squirrel monkeys. Plans are at an advanced stage to begin clinical trials. Researchers have also proved that CD[59] can be used with AMD. Gene therapy is also able to treat primary open angle glaucoma [POAG] in animal models, and studies show it is economically viable
Subject(s)
Humans , Female , Male , Ophthalmology , Eye Diseases/genetics , Mutation/genetics , Retinitis Pigmentosa , Leber Congenital Amaurosis , Macular Degeneration , Glaucoma, Open-AngleABSTRACT
Accurate molecular diagnosis of genetic eye diseases has proven to be of great importance because of the prognostic and therapeutic value of an accurate ascertainment of the underlying genetic mutation. Efforts continue in diagnostic laboratories to develop strategies that allow the discovery of responsible gene/mutations in the individual patient using the least number of assays and economizing on the expenses and time involved in the process. Once the ophthalmologist has made the best possible clinical diagnosis, blood samples are obtained for genetic testing. In this paper we will review the basic laboratory methods utilized to identify the chromosomal or mutational etiology of genetic diseases that affect the eye
Subject(s)
Mutation , Karyotyping , Eye Diseases/genetics , Molecular Diagnostic TechniquesABSTRACT
Vários estudos têm procurado identificar marcadores genéticos para doenças oftalmológicas. Dentre eles, destaca-se o antígeno de histocompatibilidade humano (Human Leukocyte Antigens). Situado no braço curto do cromossomo 6, o sistema antígeno de histocompatibilidade humano é conhecido por sua capacidade de conferir susceptibilidade ou proteção a diferentes doenças. Em virtude do seu acentuado polimorfismo, o tipo e a força da associação variam a depender da enfermidade e da raça (etnia) estudadas. O surgimento de métodos moleculares para tipificação dos alelos antígeno de histocompatibilidade humano e as recentes atualizações de sua nomenclatura têm contribuído para o melhor entendimento desse sistema. O presente trabalho tem por objetivos revisar a estrutura e função do sistema antígeno de histocompatibilidade humano e relatar suas associações com uveíte anterior aguda, penfigóide cicatricial ocular, ceratocone de início na juventude e retinocoroidopatia "birdshot".
Subject(s)
Humans , Eye Diseases/immunology , HLA Antigens/immunology , Alleles , Eye Diseases/genetics , Histocompatibility Antigens Class I , Histocompatibility Antigens Class II , HLA Antigens/genetics , Retinal Diseases/genetics , Retinal Diseases/immunology , Uveitis, Posterior/genetics , Uveitis, Posterior/immunologyABSTRACT
A continuación se revisarán de manera muy esquemática las patologías oculares más frecuentes en el preescolar y escolar, y también algunas patologías que si bien no son muy frecuentes, si son importantes diagnosticarlas y tratarlas precozmente, idealmente antes de los 8 años, es decir, antes de la maduración total del sistema visual, de lo contrario el pronóstico de ese niño se empobrece, su visión no alcanza una normalidad y va a terminar con una ambliopía. por lo tanto, es muy importante destacar el rol de la derivación temprana de aquellos pacientes que presentan alguna patología ocular importante como una ptosis palpebral, estrabismo o algún problema refractivo importante, entre otros, para prevenir el compromiso visual posterior.
Subject(s)
Humans , Child, Preschool , Child , Astigmatism , Strabismus/classification , Hyperopia , Eye Injuries/genetics , Myopia , Eye Diseases/diagnosis , Eye Diseases/genetics , Conjunctival Diseases/classification , Corneal Diseases/classification , Retinal Diseases/classification , Retinal Diseases/diagnosis , Retinal Diseases/therapy , Eyelid Diseases/etiology , Eyelid Diseases/drug therapy , Eyelid Diseases/therapy , Lens Diseases/diagnosisSubject(s)
Humans , Male , Glaucoma/physiopathology , Growth Disorders , Intraocular Pressure , Eye Abnormalities , Eye Diseases/genetics , SyndromeABSTRACT
Gene therapy is a novel form of drug delivery that enlists the synthetic machinery of the patient's cells to produce a therapeutic agent. Genes may be delivered into cells in vitro or in vivo utilising viral or non-viral vectors. Recent technical advances have led to the demonstration of the molecular basis of various ocular diseases. Ocular disorders with the greatest potential for benefit of gene therapy include hereditary diseases such as retinitis pigmentosa, tumours such as retinoblastoma or melanoma, and acquired proliferative and neovascular retinal disorders. Gene transfer into ocular tissues has been demonstrated with growing functional success and may develop into a new therapeutic tool for clinical ophthalmology in future.
Subject(s)
Animals , Clinical Trials as Topic , Eye Diseases/genetics , Genetic Therapy/methods , Gene Transfer Techniques , Genetic Vectors , Humans , Models, AnimalABSTRACT
Se estudiaron cuatro pacientes varones con vitreorretinopatía familiar exudativa. Se demostró herencia recesiva ligada al sexo. Dos pacientes presentan la forma severa de la enfermedad, con desprendimiento retinal exudativo tipo Coats, tracción papilar y retinal, masas fibrovasculares en la periferia temporal, con anastomosis arteriovenosa en el límite. Se concluye que el defecto genético se manifiesta inicialmente como una inmadurez o falta de desarrollo de la circulación retinal de la periferia temporal
Subject(s)
Humans , Male , Child , Adolescent , Adult , Vitreous Body/pathology , Retinal Degeneration/etiology , Retinal Detachment/etiology , Retinopathy of Prematurity/etiology , Eye Diseases, Hereditary/etiology , Eye Diseases/geneticsABSTRACT
Se describe un paciente con síndrome de Stickler el cual fue identificado desde su nacimiento como síndrome de Pierre Robin. Nosotros estudiamos 10 miembros de su familia afectados. El análisis genético sugirió una transmisión autosómica dominante. La miopía degenerativa fue la manifestación clínica más común. El desprendimiento de retina fue la sintomatologia más grave y se presentó en tres pacientes en la época de la adolescencia; en dos de ellas las rupturas retinianas fueron diagnosticadas al momento de identifiicar el síndrome de Stickler indicándose su tratamiento en forma urgente. El desprendimiento de retina que ocurre después de la extracción de las cataratas puede ser debido fundamentalmente a un defecto genético que predispone a las lesiones retinianas. Nuestro interés especial es enfatizar la signología del síndrome y las implicaciones genéticas, tratar de identificar a los afectados antes de que presenten ceguera, y dar asesoramiento genético oportuno