دورية أكاديمية
أعرض في EDS

Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.

التفاصيل البيبلوغرافية
العنوان: Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.
المؤلفون: Reis LM; Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI, 53226, USA. Electronic address: lreis@mcw.edu., Seese SE; Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI, 53226, USA. Electronic address: sseese@mcw.edu., Costakos D; Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI, 53226, USA. Electronic address: dcostakos@mcw.edu., Semina EV; Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI, 53226, USA; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI, 53226, USA; Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI, 53226, USA. Electronic address: esemina@mcw.edu.
المصدر: Progress in retinal and eye research [Prog Retin Eye Res] 2024 Sep; Vol. 102, pp. 101288. Date of Electronic Publication: 2024 Aug 02.
نوع المنشور: Journal Article; Review
اللغة: English
بيانات الدورية: Publisher: Pergamon Country of Publication: England NLM ID: 9431859 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-1635 (Electronic) Linking ISSN: 13509462 NLM ISO Abbreviation: Prog Retin Eye Res Subsets: MEDLINE
أسماء مطبوعة: Publication: Oxford : Pergamon
Original Publication: Oxford ; New York : Pergamon Press c1994-
مواضيع طبية MeSH: Anterior Eye Segment*/abnormalities , Genetic Association Studies* , Eye Abnormalities*/genetics , Eye Abnormalities*/physiopathology, Humans ; Phenotype ; Eye Diseases, Hereditary/genetics ; Eye Diseases, Hereditary/diagnosis ; Eye Diseases, Hereditary/physiopathology
مستخلص: Development of the anterior segment of the eye requires reciprocal sequential interactions between the arising tissues, facilitated by numerous genetic factors. Disruption of any of these processes results in congenital anomalies in the affected tissue(s) leading to anterior segment disorders (ASD) including aniridia, Axenfeld-Rieger anomaly, congenital corneal opacities (Peters anomaly, cornea plana, congenital primary aphakia), and primary congenital glaucoma. Current understanding of the genetic factors involved in ASD remains incomplete, with approximately 50% overall receiving a genetic diagnosis. While some genes are strongly associated with a specific clinical diagnosis, the majority of known factors are linked with highly variable phenotypic presentations, with pathogenic variants in FOXC1, CYP1B1, and PITX2 associated with the broadest spectrum of ASD conditions. This review discusses typical clinical presentations including associated systemic features of various forms of ASD; the latest functional data and genotype-phenotype correlations related to 25 ASD factors including newly identified genes; promising novel candidates; and current and emerging treatments for these complex conditions. Recent developments of interest in the genetics of ASD include identification of phenotypic expansions for several factors, discovery of multiple modes of inheritance for some genes, and novel mechanisms including a growing number of non-coding variants and alleles affecting specific domains/residues and requiring further studies.
(Copyright © 2024 Elsevier Ltd. All rights reserved.)
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معلومات مُعتمدة: R01 EY015518 United States EY NEI NIH HHS; R01 EY034398 United States EY NEI NIH HHS
فهرسة مساهمة: Keywords: Aniridia; Anterior segment disorder; Axenfeld-Rieger; Corneal opacity; Heterogeneity; Peters anomaly; Primary congenital aphakia; Primary congenital glaucoma
تواريخ الأحداث: Date Created: 20240803 Date Completed: 20240912 Latest Revision: 20240914
رمز التحديث: 20240914
مُعرف محوري في PubMed: PMC11392650
DOI: 10.1016/j.preteyeres.2024.101288
PMID: 39097141
قاعدة البيانات: MEDLINE
الوصف
تدمد:1873-1635
DOI:10.1016/j.preteyeres.2024.101288