Monday, October 14, 2024

A children prevalent eye genetic disorder - retinitis pigmentosa.

As we all know, genes play a significant role in the pathogenesis of eye diseases. Some of which are highly prevalent in children and adults. Over 60% of cases of childhood blindness are caused by genetic factors, such as congenital glaucoma, ocular malformations, atrophy of the optic nerve, and retinitis pigmentosa.


So, what is retinitis pigmentosa? Here is the RDDC. It provides the interactive visualization and exploration of biomedical data via a coherent and consistent set of interfaces and tools. Retinitis pigmentosa is a clinically and genetically heterogeneous blinding retinal disease, which belongs to the large group of inherited retinal disease.


Retinitis pigmentosa commences with progressive night blindness due to rod photoreceptor disease, accompanied by gradual loss of peripheral visual field, followed by complete blindness due to cone photoreceptor degeneration. And RHO, not the 17th letter of the Greek alphabet Rho. Let's keep searching from RDDC.


RHO is a protein coding gene. The rhodopsin protein encoded by the RHO gene is found in rod cells in the back of the eye and is essential for vision in low light conditions. Rhodopsin protein is attached to a molecule called 11-cis retinal, which is a form of vitamin A. When light hits this molecule, it activates rhodopsin and sets off a series of chemical reactions that create electrical signals.


These signals are transmitted to the brain, where they are interpreted as vision. Studies suggest that RHO gene mutations altered versions of rhodopsin causing rods to self-destruct. The loss of these cells leads to progressive night blindness in people with retinitis pigmentosa.


However, rhodopsin is highly related to vitamin A. Vitamin A may help slow vision loss from the common forms of retinitis pigmentosa. So, make sure adequate daily intake of Vitamin A is necessary. 


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