Practical guide to genetic screening for inherited eye diseases.
Genetic eye diseases affect around one in 1000 people worldwide for which the molecular aetiology remains unknown in the majority. The identification of disease-causing gene variant(s) allows a better understanding of the disorder and its inheritance. There is now an approved retinal gene therapy fo...
| Publicado en: | Therapeutic Advances in Ophthalmology pp. 1 - 29 |
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| Autores principales: | , , , , , |
| Formato: | pictorial questions and answers review tables/charts Journal Article |
| Publicado: |
Sage Publications Inc.
9/22/2020
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=146026904&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 146026904 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 25158414 LAW0 jtl: Therapeutic Advances in Ophthalmology issn: 25158414 maglogo: Y pubinfo: dt: 9/22/2020 pid: 344 pub: Sage Publications Inc. place: Thousand Oaks, California artinfo: ui: 146026904 146026904 146026904 10.1177/2515841420954592 146026904 ppf: 1 ppct: 28 formats: fmt: – @attributes: type: T – @attributes: type: P tig: atl: Practical guide to genetic screening for inherited eye diseases. aug: au: Méjécase, Cécile Malka, Samantha Guan, Zeyu Slater, Amy Arno, Gavin Moosajee, Mariya affil: Institute of Ophthalmology, University College London, London, UK sug: subj: Eye Diseases Familial and Genetic Genetic Screening Eye Diseases Therapy Health Personnel Education Genetic Counseling Gene Expression Profiling Family Planning ab: Genetic eye diseases affect around one in 1000 people worldwide for which the molecular aetiology remains unknown in the majority. The identification of disease-causing gene variant(s) allows a better understanding of the disorder and its inheritance. There is now an approved retinal gene therapy for autosomal recessive RPE65- retinopathy, and numerous ocular gene/mutation-targeted clinical trials underway, highlighting the importance of establishing a genetic diagnosis so patients can fully access the latest research developments and treatment options. In this review, we will provide a practical guide to managing patients with these conditions including an overview of inheritance patterns, required pre- and post-test genetic counselling, different types of cytogenetic and genetic testing available, with a focus on next generation sequencing using targeted gene panels, whole exome and genome sequencing. We will expand on the pros and cons of each modality, variant interpretation and options for family planning for the patient and their family. With the advent of genomic medicine, genetic screening will soon become mainstream within all ophthalmology subspecialties for prevention of disease and provision of precision therapeutics. pubtype: Academic Journal doctype: pictorial questions and answers review tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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