Medicine and Health Sciences
The clinical entity collectively known as glaucoma is a very specific optic neuropathy that affects individuals with various degrees of ocular complications and even with greater degrees of genetic heterogeneity.[1,2] Although the very first genetic contribution to this group of eye disorders was described over 50 years ago, it took another 30 years before the first molecular studies of this condition were undertaken.[4,5] The significant challenge in understanding the basic underlying genes, proteins, biochemical and molecular pathways that are involved in this group of disorders is due to many difficulties in accurate clinical diagnosis, classification, primary vs. secondary disease, as well as various degrees of both clinical and genetic heterogeneity.[6,7] Furthermore, lack of suitable large families, extreme ages of onset, racial ethnicity and many other limiting factors compound our ability to find the majority of defective genes and proteins for this ocular condition.
Sarfarazi, Mansoor, "Common Molecular Challenges in Glaucoma" (2015). Articles - Patient Care. 87.