I always knew individuals could lose eyes if a terrible accident occurs, but I never knew that babies can be born without eyes! Did you?
Recently, a condition called anophthalmia has been discovered. It is when there are complications with the development
of both copies of the STRA6 gene, one that is “responsible for transporting vitamin A into the cells.” In fact, vitamin A is needed for the development of every inch of our retina, a tissue lining the inside of the eye. In less scientific terms, anopthalmia is when an individual is born with the loss of one or both eyes. Microphthalmia, a condition where an individual has small eyes, and coloboma, which is a deformed eye, are two other eye conditions that develop in a baby while he or she is still in the womb. These three diseases make up eleven percent of all eye deformations. However, the Micro & Anophthalmic Children’s Society UK reported that microphthalmia and coloboma are much more common than anopthalmia.
Doctors like Dr. Sean Ennis from the UCD School of Medicine and Medical Science, University College Dublin, and the National Centre for Medical Research started researching the perplexing idea that babies can be born without eyes with “nine individuals from across several generations of an Irish ethnic minority family of nomadic descent who suffer with one or more of the three eye defects to varying degrees of severity.”
Dr. Ennis says,
“Using advanced gene sequencing technologies, we firstly scanned for regions of DNA shared by all patients before analysing a single common region for the disease gene. From this we pinpointed STRA6, a gene responsible for transporting vitamin A into cells.“
In the past, doctors have found that alterations and complications of the STRA6 gene in DNA can cause Matthew-Wood syndrome. This is a disease that can cause irregular eye formation and hardships for development in general.
Scientists of the University College Dublin, Ireland, in addition to doctors such as Dr. Hui Sun and Dr. Riki Kawaguchi of the University of California, actually made this fascinating discovery recently. Now, they are attempting to make genetic testing to determine whether a baby in a mother’s womb will have anopthalmia early on. They would really like to develop a clinical practice, which would take place at the National Centre for Medical Genetics (NCMG) in Dublin. Professor Andrew Green of University College Dublin says,
“Accurate carrier testing and genetic counselling can be offered to those individuals planning to have children. And ultimately, this work may be used to develop preventive measures or possible treatments in the future,”
As of right now, babies born with small eyes, deformed eyes, or no eyes must get prosthetic eyes to help them see and help the development of other parts of their bodies, including the face and skull. Eye defects can also be associated with birth defects and deformations in the heart, lungs, and diaphragm. We must hope for progress in the research and clinical trials for anophthalmia, so that the malformation and lack of eye disorder disappears forever one day!