Abstract:
:Disorders of the anterior segment of the eye encompass a variety of clinical presentations including aniridia, Axenfeld and Rieger anomalies, primary congenital glaucoma, Peters anomaly, as well as syndromal associations. These conditions have a significant impact on vision due to disruption of the visual axis, and also secondary glaucoma which occurs in over 50% of patients. Ocular anterior segment disorders occur due to a complex interplay of developmental, embryological and genetic factors, and often have phenotypic overlaps and genetic heterogeneity. Here we present a review of the clinical features and genes associated with aniridia, Axenfeld and Rieger anomalies, primary congenital glaucoma, Peters anomaly, and syndromic forms of these conditions. We also highlight phenotype-genotype correlations, recent discoveries with next-generation sequencing which broaden known phenotypes, and new anterior segment genes and pathways. We provide a guide towards genetic diagnosis for clinicians investigating patients with anterior segment dysgenesis.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Ma AS,Grigg JR,Jamieson RVdoi
10.1007/s00439-018-1935-7subject
Has Abstractpub_date
2019-09-01 00:00:00pages
899-915issue
8-9eissn
0340-6717issn
1432-1203pii
10.1007/s00439-018-1935-7journal_volume
138pub_type
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