Publications by authors named "Samir Bera"
Background: The anterior segment of the eye plays a crucial role in maintaining the normal intraocular pressure and vision. Developmental defects in the anterior segment structures lead to anterior segment dysgenesis (ASD) and primary congenital glaucoma (PCG), which share overlapping clinical features. Several genes have been mapped and characterized in ASD, some of which are also involved in other glaucoma phenotypes.
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- Primary congenital glaucoma (PCG) is a genetic eye condition in children caused by abnormalities in eye structures, and past research has linked certain rare genetic variants to its complexity and variability.
- A study involving deep sequencing of a core centrosomal protein in a group of PCG patients revealed rare pathogenic variants in a small percentage of cases, with some co-occurring genetic variations leading to poorer outcomes.
- The findings point to the possible roles of additional genes and cilia-centrosomal functions in the development of PCG, suggesting further areas for research in understanding this condition.