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[PMID]:28471102
[Au] Autor:Yoo SG; Cho MJ; Kim US; Baek SH
[Ad] Endereço:Department of Ophthalmology, Kim's Eye Hospital, Seoul, Korea.
[Ti] Título:Cycloplegic Refraction in Hyperopic Children: Effectiveness of a 0.5% Tropicamide and 0.5% Phenylephrine Addition to 1% Cyclopentolate Regimen.
[So] Source:Korean J Ophthalmol;31(3):249-256, 2017 Jun.
[Is] ISSN:2092-9382
[Cp] País de publicação:Korea (South)
[La] Idioma:eng
[Ab] Resumo:PURPOSE: To evaluate the effectiveness of a cycloplegic regimen using 0.5% tropicamide and 0.5% phenylephrine (Tropherine, Hanmi Pharm), in addition to 1% cyclopentolate, in hyperopic children. METHODS: The medical records of hyperopic patients below the age of 14 years who had undergone cycloplegic retinoscopy were retrospectively reviewed. Cycloplegic refractions were performed using one of two cycloplegic regimens. Regimen 1 was a Tropherine-added regimen comprising the administration of one drop of 1% cyclopentolate followed by two to three drops of Tropherine added at 15-minute intervals. Regimen 2 was a cyclopentolate-only regimen comprising the administration of three to four drops of 1% cyclopentolate at 15-minute intervals. The mean difference between noncycloplegic and cycloplegic refraction was compared between the two regimens. RESULTS: A total of 308 eyes of 308 hyperopic children were included. The mean difference (±standard deviation) in the spherical equivalent (SE) between cycloplegic and noncycloplegic refraction was significantly larger in regimen 2 than in regimen 1, with values of +1.70 ± 1.03 diopters (D) and +1.25 ± 0.89 D, respectively (p=0.001). The SE change after cycloplegia was significantly different between the two regimens only in patients aged 5 years or younger (p=0.001), particularly in those with high hyperopia with an SE ≥5 D (p=0.005) or fully accommodative esotropia (p=0.009). There was no significant difference between the two regimens in patients older than 5 years, regardless of the presence of high hyperopia or fully accommodative esotropia. CONCLUSIONS: The Tropherine-added regimen exerted a weaker cycloplegic effect than the cyclopentolate-only regimen, particularly in children under the age of 5 years with high hyperopia or fully accommodative esotropia. However, the difference in refraction between the two regimens was small. A Tropherine-added regimen can be effective in hyperopic children, with less associated discomfort than the instillation of cyclopentolate.
[Mh] Termos MeSH primário: Acomodação Ocular/efeitos dos fármacos
Ciclopentolato/administração & dosagem
Oftalmopatias Hereditárias/tratamento farmacológico
Hiperopia/tratamento farmacológico
Fenilefrina/administração & dosagem
Refração Ocular/efeitos dos fármacos
Tropicamida/administração & dosagem
[Mh] Termos MeSH secundário: Adolescente
Criança
Pré-Escolar
Quimioterapia Combinada
Oftalmopatias Hereditárias/fisiopatologia
Feminino
Seguimentos
Seres Humanos
Hiperopia/fisiopatologia
Lactente
Recém-Nascido
Masculino
Midriáticos/administração & dosagem
Soluções Oftálmicas/administração & dosagem
Estudos Retrospectivos
Fatores de Tempo
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Mydriatics); 0 (Ophthalmic Solutions); 1WS297W6MV (Phenylephrine); I76F4SHP7J (Cyclopentolate); N0A3Z5XTC6 (Tropicamide)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:180308
[Lr] Data última revisão:
180308
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170505
[St] Status:MEDLINE
[do] DOI:10.3341/kjo.2016.0007


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[PMID]:28459979
[Au] Autor:Whitman MC; Engle EC
[Ad] Endereço:F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA.
[Ti] Título:Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance.
[So] Source:Hum Mol Genet;26(R1):R37-R44, 2017 08 01.
[Is] ISSN:1460-2083
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Unraveling the genetics of the paralytic strabismus syndromes known as congenital cranial dysinnervation disorders (CCDDs) is both informing physicians and their patients and broadening our understanding of development of the ocular motor system. Genetic mutations underlying ocular CCDDs alter either motor neuron specification or motor nerve development, and highlight the importance of modulations of cell signaling, cytoskeletal transport, and microtubule dynamics for axon growth and guidance. Here we review recent advances in our understanding of two CCDDs, congenital fibrosis of the extraocular muscles (CFEOM) and Duane retraction syndrome (DRS), and discuss what they have taught us about mechanisms of axon guidance and selective vulnerability. CFEOM presents with congenital ptosis and restricted eye movements, and can be caused by heterozygous missense mutations in the kinesin motor protein KIF21A or in the ß-tubulin isotypes TUBB3 or TUBB2B. CFEOM-causing mutations in these genes alter protein function and result in axon growth and guidance defects. DRS presents with inability to abduct one or both eyes. It can be caused by decreased function of several transcription factors critical for abducens motor neuron identity, including MAFB, or by heterozygous missense mutations in CHN1, which encodes α2-chimaerin, a Rac-GAP GTPase that affects cytoskeletal dynamics. Examination of the orbital innervation in mice lacking Mafb has established that the stereotypical misinnervation of the lateral rectus by fibers of the oculomotor nerve in DRS is secondary to absence of the abducens nerve. Studies of a CHN1 mouse model have begun to elucidate mechanisms of selective vulnerability in the nervous system.
[Mh] Termos MeSH primário: Axônios/fisiologia
Síndrome da Retração Ocular/genética
Fibrose/genética
Oftalmoplegia/genética
[Mh] Termos MeSH secundário: Animais
Axônios/metabolismo
Anormalidades Congênitas
Síndrome da Retração Ocular/metabolismo
Síndrome da Retração Ocular/patologia
Oftalmopatias Hereditárias/genética
Fibrose/metabolismo
Fibrose/patologia
Seres Humanos
Cinesina/genética
Cinesina/metabolismo
Camundongos
Mutação
Mutação de Sentido Incorreto
Transtornos da Motilidade Ocular/genética
Músculos Oculomotores/anormalidades
Músculos Oculomotores/patologia
Oftalmoplegia/metabolismo
Oftalmoplegia/patologia
Crânio/fisiopatologia
Tubulina (Proteína)/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (KIF21A protein, human); 0 (TUBB3 protein, human); 0 (Tubulin); EC 3.6.4.4 (Kinesin)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:180214
[Lr] Data última revisão:
180214
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170502
[St] Status:MEDLINE
[do] DOI:10.1093/hmg/ddx168


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[PMID]:28465303
[Au] Autor:Solebo AL; Teoh L; Rahi J
[Ad] Endereço:Lifecourse Epidemiology and Biostatistics Section, Population, Policy and Practice Programme, Institute of Child Health, University College London, London, UK.
[Ti] Título:Epidemiology of blindness in children.
[So] Source:Arch Dis Child;102(9):853-857, 2017 09.
[Is] ISSN:1468-2044
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:An estimated 14 million of the world's children are blind. A blind child is more likely to live in socioeconomic deprivation, to be more frequently hospitalised during childhood and to die in childhood than a child not living with blindness. This update of a previous review on childhood visual impairment focuses on emerging therapies for children with severe visual disability (severe visual impairment and blindness or SVI/BL).For children in higher income countries, cerebral visual impairment and optic nerve anomalies remain the most common causes of SVI/BL, while retinopathy of prematurity (ROP) and cataract are now the most common avoidable causes. The constellation of causes of childhood blindness in lower income settings is shifting from infective and nutritional corneal opacities and congenital anomalies to more resemble the patterns seen in higher income settings. Improvements in maternal and neonatal health and investment in and maintenance of national ophthalmic care infrastructure are the key to reducing the burden of avoidable blindness. New therapeutic targets are emerging for childhood visual disorders, although the safety and efficacy of novel therapies for diseases such as ROP or retinal dystrophies are not yet clear. Population-based epidemiological research, particularly on cerebral visual impairment and optic nerve hypoplasia, is needed in order to improve understanding of risk factors and to inform and support the development of novel therapies for disorders currently considered 'untreatable'.
[Mh] Termos MeSH primário: Cegueira/epidemiologia
[Mh] Termos MeSH secundário: Cegueira/diagnóstico
Cegueira/etiologia
Catarata/complicações
Catarata/epidemiologia
Criança
Opacidade da Córnea/complicações
Opacidade da Córnea/epidemiologia
Oftalmopatias Hereditárias/complicações
Oftalmopatias Hereditárias/epidemiologia
Saúde Global/estatística & dados numéricos
Seres Humanos
Renda/estatística & dados numéricos
Recém-Nascido
Nervo Óptico/anormalidades
Prevalência
Doenças Retinianas/complicações
Doenças Retinianas/epidemiologia
Retinopatia da Prematuridade/complicações
Retinopatia da Prematuridade/epidemiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1709
[Cu] Atualização por classe:180124
[Lr] Data última revisão:
180124
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170504
[St] Status:MEDLINE
[do] DOI:10.1136/archdischild-2016-310532


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[PMID]:28224801
[Au] Autor:Hlavatá L; Dudáková L; Trková M; Soldátová I; Skalická P; Kousal B; Lisková P
[Ti] Título:[Preimplantation genetic diagnosis and monogenic inherited eye diseases].
[Ti] Título:Preimplantacní genetická diagnostika a dedicná onemocnení oka..
[So] Source:Cesk Slov Oftalmol;72(5):167-171, 2016.
[Is] ISSN:1211-9059
[Cp] País de publicação:Czech Republic
[La] Idioma:cze
[Ab] Resumo:OBJECTIVE: Preimplantation genetic diagnosis (PGD) is an established application of genetic testing in the context of in vitro fertilization. PGD is an alternative method to prenatal diagnosis which aims to prevent the transmission of an inherited disorder to the progeny by implanting only embryos that do not carry genetic predisposition for a particular disease. The aim of this study is to provide an overview of eye disorders for which PGD has been carried out. METHODS: The European literature search focused on best practices, ethical issues, risks and results of PGD for inherited eye disorders. RESULTS: PGD is performed for a number of ocular disorders; a prerequisite for its application is however, the knowledge of a disease-causing mutation(s). The main advantage of this method is that the couple is not exposed to a decision of whether or not to undergo an abortion. Qualified counselling must be provided prior to the PGD in order to completely understand the risk of disability in any child conceived, consequences of disease manifestation, and advantages as well as limitations of this method. In the group of non-syndromic eye diseases and diseases in which ocular findings dominate, PGD has been performed in European countries for aniridia, choroideremia, congenital fibrosis of extraocular muscles, Leber congenital amaurosis, ocular albinism, retinitis pigmentosa, X-linked retinoschisis, Stargardt disease, blepharophimosis-ptosis-inverse epicanthus syndrome and retinoblastoma. Sexing for X-linked or mitochondrial diseases has been carried out for blue cone monochromatism, choroideremia, familial exudative vitreoretinopathy, Leber hereditary optic neuropathy, macular dystrophy (not further specified), Norrie disease, X-linked congenital stationary night blindness, X-linked retinoschisis and nystagmus (not further specified). CONCLUSION: In recent years, there has been an increase in potential to use PGD. The spectrum of diseases for this method has widened to include severe inherited eye diseases.Key words: preimplantation genetic diagnosis; monogenic eye diseases; in vitro fertilization.
[Mh] Termos MeSH primário: Oftalmopatias Hereditárias/genética
Neoplasias Oculares/genética
Testes Genéticos
Diagnóstico Pré-Implantação
Diagnóstico Pré-Natal
[Mh] Termos MeSH secundário: Feminino
Fertilização In Vitro
Predisposição Genética para Doença
Seres Humanos
Masculino
Gravidez
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171128
[Lr] Data última revisão:
171128
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170223
[St] Status:MEDLINE


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[PMID]:27860478
[Au] Autor:Dudáková L; Kousal B; Kolárová H; Hlavatá L; Lisková P
[Ti] Título:[Gene Therapy for Inherited RETINAL AND OPTIC NERVE Disorders: Current Knowledge].
[Ti] Título:Genová terapie dedicných onemocnení SÍTNICE A ZRAKOVÉHO NERVU: soucasný stav poznání..
[So] Source:Cesk Slov Oftalmol;72(4):128-136, 2016.
[Is] ISSN:1211-9059
[Cp] País de publicação:Czech Republic
[La] Idioma:cze
[Ab] Resumo:The aim of this review is to provide a comprehensive summary of current gene therapy clinical trials for monogenic and optic nerve disorders.The number of genes for which gene-based therapies are being developed is growing. At the time of writing this review gene-based clinical trials have been registered for Leber congenital amaurosis 2 (LCA2), retinitis pigmentosa 38, Usher syndrome 1B, Stargardt disease, choroideremia, achromatopsia, Leber hereditary optic neuropathy (LHON) and X-linked retinoschisis. Apart from RPE65 gene therapy for LCA2 and MT-ND4 for LHON which has reached phase III, all other trials are in investigation phase I and II, i.e. testing the efficacy and safety.Because of the relatively easy accessibility of the retina and its ease of visualization which allows monitoring of efficacy, gene-based therapies for inherited retinal disorders represent a very promising treatment option. With the development of novel therapeutic approaches, the importance of establishing not only clinical but also molecular genetic diagnosis is obvious.Key words: gene therapy, monogenic retinal diseases, optic nerve atrophy, mitochondrial disease.
[Mh] Termos MeSH primário: Oftalmopatias Hereditárias/terapia
Terapia Genética/métodos
Doenças do Nervo Óptico/terapia
Doenças Retinianas/terapia
[Mh] Termos MeSH secundário: Seres Humanos
Doenças do Nervo Óptico/genética
Doenças Retinianas/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171128
[Lr] Data última revisão:
171128
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161119
[St] Status:MEDLINE


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[PMID]:28806347
[Au] Autor:Phillips PH; Sheldon CA
[Ad] Endereço:Department of Ophthalmology (PHP), Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Jones Eye Institute, Little Rock, Arkansas; and Department of Ophthalmology and Visual Sciences (CAS), University of British Columbia, Vancouver, British Columbia, Canada.
[Ti] Título:Pediatric Pseudotumor Cerebri Syndrome.
[So] Source:J Neuroophthalmol;37 Suppl 1:S33-S40, 2017 Sep.
[Is] ISSN:1536-5166
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Idiopathic intracranial hypertension, otherwise known as primary pseudotumor cerebri syndrome (PTCS), most frequently occurs in obese women of childbearing age. However, children may be affected as well. This review will address recent findings regarding demographics, diagnosis, and treatment of pediatric PTCS. Prepubertal children with primary PTCS have an equal sex distribution and less frequent obesity compared with adult patients. However, female gender and obesity are risk factors for primary PTCS in postpubertal children. Compared with adults, children with PTCS more frequently present with ocular motility deficits and more often have associated medical conditions that increase the risk of developing PTCS. Visual field testing may be unreliable, and the optimal modality to monitor visual function is unknown. MRI shows signs of elevated intracranial pressure (ICP) in children with PTCS similar to that of adults. It has now been established that elevated ICP in children ≤18 years old is greater than 25 cm H20 in nonobese, nonsedated children, and greater than 28 cm H2O in the remainder. Optical coherence tomography (OCT) may be used to distinguish pseudopapilledema from papilledema, monitor response to treatment in preverbal children, and identify patients with PTCS at risk for permanent visual loss. However, the precise role of OCT in the management of pediatric PTCS remains to be determined.
[Mh] Termos MeSH primário: Oftalmopatias Hereditárias
Pressão Intracraniana/fisiologia
Disco Óptico/patologia
Doenças do Nervo Óptico
Pseudotumor Cerebral
[Mh] Termos MeSH secundário: Criança
Diagnóstico Diferencial
Oftalmopatias Hereditárias/diagnóstico
Oftalmopatias Hereditárias/etiologia
Oftalmopatias Hereditárias/terapia
Seres Humanos
Doenças do Nervo Óptico/diagnóstico
Doenças do Nervo Óptico/etiologia
Doenças do Nervo Óptico/terapia
Pseudotumor Cerebral/complicações
Pseudotumor Cerebral/diagnóstico
Pseudotumor Cerebral/terapia
Síndrome
Tomografia de Coerência Óptica
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171102
[Lr] Data última revisão:
171102
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170815
[St] Status:MEDLINE
[do] DOI:10.1097/WNO.0000000000000548


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[PMID]:28751151
[Au] Autor:Hendriks M; Verhoeven VJM; Buitendijk GHS; Polling JR; Meester-Smoor MA; Hofman A; Kamermans M; Ingeborgh van den Born L; Klaver CCW; RD5000 Consortium
[Ad] Endereço:The Rotterdam Eye Hospital, Rotterdam, Netherlands.
[Ti] Título:Development of Refractive Errors-What Can We Learn From Inherited Retinal Dystrophies?
[So] Source:Am J Ophthalmol;182:81-89, 2017 Oct.
[Is] ISSN:1879-1891
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:PURPOSE: It is unknown which retinal cells are involved in the retina-to-sclera signaling cascade causing myopia. As inherited retinal dystrophies (IRD) are characterized by dysfunction of a single retinal cell type and have a high risk of refractive errors, a study investigating the affected cell type, causal gene, and refractive error in IRDs may provide insight herein. DESIGN: Case-control study. METHODS: Study Population: Total of 302 patients with IRD from 2 ophthalmogenetic centers in the Netherlands. Reference Population: Population-based Rotterdam Study-III and Erasmus Rucphen Family Study (N = 5550). Distributions and mean spherical equivalent (SE) were calculated for main affected cell type and causal gene; and risks of myopia and hyperopia were evaluated using logistic regression. RESULTS: Bipolar cell-related dystrophies were associated with the highest risk of SE high myopia 239.7; odds ratio (OR) mild hyperopia 263.2, both P < .0001; SE -6.86 diopters (D) (standard deviation [SD] 6.38), followed by cone-dominated dystrophies (OR high myopia 19.5, P < .0001; OR high hyperopia 10.7, P = .033; SE -3.10 D [SD 4.49]); rod dominated dystrophies (OR high myopia 10.1, P < .0001; OR high hyperopia 9.7, P = .001; SE -2.27 D [SD 4.65]), and retinal pigment epithelium (RPE)-related dystrophies (OR low myopia 2.7; P = .001; OR high hyperopia 5.8; P = .025; SE -0.10 D [SD 3.09]). Mutations in RPGR (SE -7.63 D [SD 3.31]) and CACNA1F (SE -5.33 D [SD 3.10]) coincided with the highest degree of myopia and in CABP4 (SE 4.81 D [SD 0.35]) with the highest degree of hyperopia. CONCLUSIONS: Refractive errors, in particular myopia, are common in IRD. The bipolar synapse and the inner and outer segments of the photoreceptor may serve as critical sites for myopia development.
[Mh] Termos MeSH primário: Oftalmopatias Hereditárias/complicações
Hiperopia/etiologia
Miopia/etiologia
Células Bipolares da Retina/patologia
Distrofias Retinianas/complicações
Segmento Interno das Células Fotorreceptoras da Retina/patologia
Segmento Externo das Células Fotorreceptoras da Retina/patologia
[Mh] Termos MeSH secundário: Adulto
Canais de Cálcio Tipo L/genética
Proteínas de Ligação ao Cálcio/genética
Estudos de Casos e Controles
Análise Mutacional de DNA
Oftalmopatias Hereditárias/diagnóstico
Oftalmopatias Hereditárias/genética
Proteínas do Olho/genética
Feminino
Seres Humanos
Hiperopia/diagnóstico
Masculino
Meia-Idade
Mutação/genética
Miopia/diagnóstico
Distrofias Retinianas/diagnóstico
Distrofias Retinianas/genética
Fatores de Risco
Sinapses/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY
[Nm] Nome de substância:
0 (CABP4 protein, human); 0 (CACNA1F protein, human); 0 (Calcium Channels, L-Type); 0 (Calcium-Binding Proteins); 0 (Eye Proteins); 0 (RPGR protein, human)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171003
[Lr] Data última revisão:
171003
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170729
[St] Status:MEDLINE


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[PMID]:28689169
[Au] Autor:Kumaran N; Moore AT; Weleber RG; Michaelides M
[Ad] Endereço:UCL Institute of Ophthalmology, University College London, London, UK.
[Ti] Título:Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions.
[So] Source:Br J Ophthalmol;101(9):1147-1154, 2017 Sep.
[Is] ISSN:1468-2079
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are both genetically and phenotypically heterogeneous, and characterised clinically by severe congenital/early infancy visual loss, nystagmus, amaurotic pupils and markedly reduced/absent full-field electroretinograms. The vast genetic heterogeneity of inherited retinal disease has been established over the last 10 - 20 years, with disease-causing variants identified in 25 genes to date associated with LCA/EOSRD, accounting for 70-80% of cases, with thereby more genes yet to be identified. There is now far greater understanding of the structural and functional associations seen in the various LCA/EOSRD genotypes. Subsequent development/characterisation of LCA/EOSRD animal models has shed light on the underlying pathogenesis and allowed the demonstration of successful rescue with gene replacement therapy and pharmacological intervention in multiple models. These advancements have culminated in more than 12 completed, ongoing and anticipated phase I/II and phase III gene therapy and pharmacological human clinical trials. This review describes the clinical and genetic characteristics of LCA/EOSRD and the differential diagnoses to be considered. We discuss in further detail the diagnostic clinical features, pathophysiology, animal models and human treatment studies and trials, in the more common genetic subtypes and/or those closest to intervention.
[Mh] Termos MeSH primário: Oftalmopatias Hereditárias
Amaurose Congênita de Leber
Distrofias Retinianas
[Mh] Termos MeSH secundário: Animais
Tratamento Farmacológico
Oftalmopatias Hereditárias/diagnóstico
Oftalmopatias Hereditárias/genética
Oftalmopatias Hereditárias/terapia
Proteínas do Olho/genética
Terapia Genética
Genótipo
Seres Humanos
Amaurose Congênita de Leber/diagnóstico
Amaurose Congênita de Leber/genética
Amaurose Congênita de Leber/terapia
Biologia Molecular
Mutação
Distrofias Retinianas/diagnóstico
Distrofias Retinianas/genética
Distrofias Retinianas/terapia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Eye Proteins)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170908
[Lr] Data última revisão:
170908
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170710
[St] Status:MEDLINE
[do] DOI:10.1136/bjophthalmol-2016-309975


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[PMID]:28687848
[Au] Autor:Tian L; Sun T; Xu K; Zhang X; Peng X; Li Y
[Ad] Endereço:Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Laboratory, Beijing, China.
[Ti] Título:Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy.
[So] Source:Invest Ophthalmol Vis Sci;58(9):3366-3375, 2017 Jul 01.
[Is] ISSN:1552-5783
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Purpose: Mutations in the BEST1 gene can cause Best vitelliform macular dystrophy (BVMD) and autosomal recessive bestrophinopathy (ARB). The aim of the current study was to establish the BEST1 mutation spectrum in Chinese patients with BVMD and ARB and to describe the phenotypic characteristics of patients carrying BEST1 mutations. Methods: A total of 37 probands with a clinical diagnosis of BVMD (17 patients) or ARB (20 patients) were recruited for genetic analysis; of these, only 5 probands had a family history. All probands underwent detailed ophthalmic examinations. All coding exons and exon-intron boundaries of the BEST1 gene were screened by PCR-based DNA sequencing. In silico programs were used to analyze the pathogenicity of all the variants. Genomic DNA rearrangements of the BEST1 gene were identified by real-time quantitative PCR (RQ-PCR). Results: For patients with BVMD, single heterozygous BEST1 mutations were identified in 13 patients and compound heterozygous mutations were found in 3 patients. For patients with ARB, biallelic mutations were found in 13 probands and single mutant alleles in six patients. Overall, 36 disease-causing variants (20 novel mutations) of the BEST1 gene were identified, including 28 (77.8%) missense, 3 (8.3%) nonsense, 4 (11.1%) splicing effect, and 1 (2.8%) frameshift small duplication mutations. Conclusions: The mutation spectrum of the BEST1 gene in Chinese patients differed from those of Caucasian patients. Mutations that cause ARB differ from those that cause BVMD. BEST1 screening is important for precise diagnosis of BVMD or ARB.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Asiático/genética
Canais de Cloreto/genética
Oftalmopatias Hereditárias/genética
Proteínas do Olho/genética
Mutação
Doenças Retinianas/genética
Distrofia Macular Viteliforme/genética
[Mh] Termos MeSH secundário: Adulto
Bestrofinas
China
Análise Mutacional de DNA
Oftalmopatias Hereditárias/diagnóstico
Seres Humanos
Masculino
Programas de Rastreamento/métodos
Meia-Idade
Fenótipo
Reação em Cadeia da Polimerase
Doenças Retinianas/diagnóstico
Distrofia Macular Viteliforme/diagnóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (BEST1 protein, human); 0 (Bestrophins); 0 (Chloride Channels); 0 (Eye Proteins)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170709
[St] Status:MEDLINE
[do] DOI:10.1167/iovs.17-21999


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[PMID]:28559085
[Au] Autor:Stone EM; Andorf JL; Whitmore SS; DeLuca AP; Giacalone JC; Streb LM; Braun TA; Mullins RF; Scheetz TE; Sheffield VC; Tucker BA
[Ad] Endereço:Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, Iowa; Stephen A. Wynn Institute for Vision Research, the University of Iowa, Iowa City, Iowa. Electronic address: edwin-stone@uiowa.edu.
[Ti] Título:Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.
[So] Source:Ophthalmology;124(9):1314-1331, 2017 Sep.
[Is] ISSN:1549-4713
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:PURPOSE: To devise a comprehensive multiplatform genetic testing strategy for inherited retinal disease and to describe its performance in 1000 consecutive families seen by a single clinician. DESIGN: Retrospective series. PARTICIPANTS: One thousand consecutive families seen by a single clinician. METHODS: The clinical records of all patients seen by a single retina specialist between January 2010 and June 2016 were reviewed, and all patients who met the clinical criteria for a diagnosis of inherited retinal disease were included in the study. Each patient was assigned to 1 of 62 diagnostic categories, and this clinical diagnosis was used to define the scope and order of the molecular investigations that were performed. The number of nucleotides evaluated in a given subject ranged from 2 to nearly 900 000. MAIN OUTCOME MEASURES: Sensitivity and false genotype rate. RESULTS: Disease-causing genotypes were identified in 760 families (76%). These genotypes were distributed across 104 different genes. More than 75% of these 104 genes have coding sequences small enough to be packaged efficiently into an adeno-associated virus. Mutations in ABCA4 were the most common cause of disease in this cohort (173 families), whereas mutations in 80 genes caused disease in 5 or fewer families (i.e., 0.5% or less). Disease-causing genotypes were identified in 576 of the families without next-generation sequencing (NGS). This included 23 families with mutations in the repetitive region of RPGR exon 15 that would have been missed by NGS. Whole-exome sequencing of the remaining 424 families revealed mutations in an additional 182 families, and whole-genome sequencing of 4 of the remaining 242 families revealed 2 additional genotypes that were invisible by the other methods. Performing the testing in a clinically focused tiered fashion would be 6.1% more sensitive and 17.7% less expensive and would have a significantly lower average false genotype rate than using whole-exome sequencing to assess more than 300 genes in all patients (7.1% vs. 128%; P < 0.001). CONCLUSIONS: Genetic testing for inherited retinal disease is now more than 75% sensitive. A clinically directed tiered testing strategy can increase sensitivity and improve statistical significance without increasing cost.
[Mh] Termos MeSH primário: Oftalmopatias Hereditárias/genética
Proteínas do Olho/genética
Mutação
Doenças Retinianas/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Criança
Pré-Escolar
Análise Mutacional de DNA
Exoma/genética
Saúde da Família
Feminino
Testes Genéticos
Genótipo
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Lactente
Masculino
Meia-Idade
Linhagem
Estudos Retrospectivos
Sensibilidade e Especificidade
Análise de Sequência de DNA
Estados Unidos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Eye Proteins)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171109
[Lr] Data última revisão:
171109
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170601
[St] Status:MEDLINE



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