دورية أكاديمية
The genetics of congenital aniridia-a guide for the ophthalmologist.
| العنوان: | The genetics of congenital aniridia-a guide for the ophthalmologist. |
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| المؤلفون: | Landsend ES; Department of Ophthalmology, Oslo University Hospital, Oslo, Norway; Faculty of Medicine, University of Oslo, Oslo, Norway. Electronic address: elandsend@gmail.com., Utheim ØA; Department of Ophthalmology, Oslo University Hospital, Oslo, Norway., Pedersen HR; Faculty of Health and Social Sciences, National Centre for Optics, Vision and Eye Care, University College of Southeast Norway, Kongsberg, Norway., Lagali N; Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden., Baraas RC; Faculty of Health and Social Sciences, National Centre for Optics, Vision and Eye Care, University College of Southeast Norway, Kongsberg, Norway., Utheim TP; Department of Ophthalmology, Oslo University Hospital, Oslo, Norway; Faculty of Health and Social Sciences, National Centre for Optics, Vision and Eye Care, University College of Southeast Norway, Kongsberg, Norway; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway. |
| المصدر: | Survey of ophthalmology [Surv Ophthalmol] 2018 Jan - Feb; Vol. 63 (1), pp. 105-113. Date of Electronic Publication: 2017 Sep 18. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Science Country of Publication: United States NLM ID: 0404551 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-3304 (Electronic) Linking ISSN: 00396257 NLM ISO Abbreviation: Surv Ophthalmol Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: New York, NY : Elsevier Science, |
| مواضيع طبية MeSH: | Mutation*, Aniridia/*genetics , PAX6 Transcription Factor/*genetics, Aniridia/metabolism ; Carrier Proteins/genetics ; Forkhead Transcription Factors/genetics ; Homeodomain Proteins/genetics ; Humans ; Intracellular Signaling Peptides and Proteins ; PAX6 Transcription Factor/metabolism ; Paired Box Transcription Factors/genetics ; Phenotype ; Tripartite Motif Proteins |
| مستخلص: | Congenital aniridia is a rare panocular disease caused by fundamental disturbances in the development of the eye, characterized primarily by hypoplasia of the iris and macula. Severe secondary complications such as keratopathy, cataract, and glaucoma are common and often lead to considerable visual impairment or blindness. Many complications in aniridia patients are difficult to treat and present a challenge for the ophthalmologist. Increasingly, associated nonocular features of the disease are also being recognized. Over the past decades, major steps have been made in the understanding of the genetic basis of aniridia. Moreover, recent studies have prepared the ground for future treatment options based on specific mutations. Therefore, specific knowledge about genetics in aniridia has become more important than ever. We provide an overview of the field of aniridia genetics and its clinical implications. (Copyright © 2017 Elsevier Inc. All rights reserved.) |
| فهرسة مساهمة: | Keywords: PAX6 gene; PAX6 mutations; aniridia; genetic investigations; genetics; haploinsufficiency; phenotype |
| المشرفين على المادة: | 0 (Carrier Proteins) 0 (FOXC1 protein, human) 0 (Forkhead Transcription Factors) 0 (Homeodomain Proteins) 0 (Intracellular Signaling Peptides and Proteins) 0 (PAX6 Transcription Factor) 0 (Paired Box Transcription Factors) 0 (TRIM44 protein, human) 0 (Tripartite Motif Proteins) |
| تواريخ الأحداث: | Date Created: 20170920 Date Completed: 20171211 Latest Revision: 20201209 |
| رمز التحديث: | 20240628 |
| DOI: | 10.1016/j.survophthal.2017.09.004 |
| PMID: | 28923585 |
| قاعدة البيانات: | MEDLINE |
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Full Text Finder | تدمد: | 1879-3304 |
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| DOI: | 10.1016/j.survophthal.2017.09.004 |