Genetic analysis of consanguineous families presenting with congenital ocular defects.


Anophthalmia and microphthalmia (A/M) are a group of rare developmental disorders that affect the size of the ocular globe. A/M may present as the sole clinical feature, but are also frequently found in a variety of syndromes. A/M is genetically heterogeneous and can be caused by chromosomal aberrations, copy number variations and single gene mutations. To… (More)
DOI: 10.1016/j.exer.2016.03.014


Figures and Tables

Sorry, we couldn't extract any figures or tables for this paper.

Slides referencing similar topics