The most basic description of an optometrist is to examine the eyes for defects or abnormalities, whether it be through refractive error or the presence of a disease which may very likely affect vision. The ranges of an optometrist’s ability to treat is from prescribing glasses to eye drops as well as other methods of treatment such as warm compresses. My initial interest in optometry came from the observation of simple eye exams and prescribing glasses to children, while it has now been able to flourish through shadowing into viewing holes in a patient’s retina or the migration of the lacrimal gland to the front of the eye, creating an aesthetically displeasing bulge. This interest drives me to primarily focus on ocular diseases and wanting to discover their biochemical and genetic basis. I am excited to combine both of my main interests of biochemistry and optometry and have them ultimately culminate into one research project.
The first disease I would like to investigate is diabetic retinopathy. Although it is usually characterized as a “microvascular complication of diabetes,” research has been found that actually marks it as first being a cause of neurodegeneration by continuous inflammation of the retina and glia (Sinclair and Schwartz, 2019). The rare ability of these symptoms to be diagnosed early enough severely limits the success of treatments. There are many genetic and physiological factors which play into this disease, some genes being strongly linked to DR but none having extremely concrete evidence.
The next ocular disease I am interested in is color blindness, specifically the red-green variation that is the most common. As taught in any biology class, being color blind follows classic Mendelian genetics via a X-linked recessive disorder. The OPN1LW and OPN1MW genes are responsible for providing a photopigment called an opsin that allows an electrical signal to be sent to the brain when long and medium wavelengths of light are detected, respectively, by the cones (NIH).
Cataracts are defined as ocular opacities, ultimately blocking vision. Those that are age-related account for 50% of blindness worldwide. They arise from a range of genetic mutations including cytoplasmic crystallins, membrane proteins, cytoskeletal proteins, and DNA/RNA-binding proteins with a mostly autosomal dominant pattern. I am most interested in the crystallin mutations which alter folding and solubility (Shiels and Hejtmancik, 2014).
OPN1LW gene – Genetics Home Reference – NIH. U.S. National Library of Medicine. National Institutes of Health.
Shiels, A. F., and Hejtmancik, J. F. (2014) Molecular Genetics of Cataract. eLS.
Sinclair, S. H., and Schwartz, S. S. (2019) Diabetic Retinopathy–An Underdiagnosed and Undertreated Inflammatory, Neuro-Vascular Complication of Diabetes. Frontiers in Endocrinology 10.