J Pediatr Genet 2016; 05(04): 184-188
DOI: 10.1055/s-0036-1592350
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Genetic Advances in Microphthalmia

Julie Plaisancie
1  Department of Medical Genetics, Purpan University Hospital, Toulouse, France
,
Patrick Calvas
1  Department of Medical Genetics, Purpan University Hospital, Toulouse, France
2  U1056 INSERM-FRE 3742 CNRS-Université Toulouse III, Toulouse, France
,
Nicolas Chassaing
1  Department of Medical Genetics, Purpan University Hospital, Toulouse, France
2  U1056 INSERM-FRE 3742 CNRS-Université Toulouse III, Toulouse, France
› Author Affiliations
Further Information

Publication History

01 October 2014

07 January 2015

Publication Date:
16 September 2016 (online)

Abstract

Congenital ocular anomalies such as anophthalmia and microphthalmia (AM) are severe craniofacial malformations in human. The etiologies of these ocular globe anomalies are diverse but the genetic origin appears to be a predominant cause. Until recently, genetic diagnosis capability was rather limited in AM patients and only a few genes were available for routine genetic testing. While some issues remain poorly understood, knowledge regarding the molecular basis of AM dramatically improved over the last years with the development of new molecular screening technologies. Thus, the genetic cause is now identifiable in more than 50% of patients with a severe bilateral eye phenotype and in around 30% of all AM patients taken together. Such advances in the knowledge of these genetic bases are important as they improve the quality of care, in terms of diagnosis, prognosis, and genetic counseling delivered to the patients and their families.