Date of Award

Fall 12-11-2019

Thesis Access

Open Access Honors Thesis

Thesis Location

Honors College Thesis

Degree Name

B.S.

Department

Ophthalmology

Faculty Advisor

Dr. Tomomi Ichinose M.D., PhD.

Abstract

Retinitis Pigmentosa is a disease which can cause blindness and affects around 2.5 million people worldwide. It is a disorder that has a multitude of ways of being inherited, such as autosomal dominant, autosomal recessive as well as X-linked and mitochondrial linked disorder. While some versions of RP may be syndromic (20%-30%), a majority of cases are in fact non-syndromic. The majority of non-syndromic cases inherited via autosomal dominant RP having RHO gene mutations, and X-linked means of inheritance having majority of patients with RPGR gene mutations. Ushers Syndrome, a syndromic version of retinitis pigmentosa and autosomal recessive RP having a majority of patients suffering from USH2A gene mutation, is associated with both vision loss as well as hearing impairment as the disease progresses and is found in 20-40% of cases whom have developed the disease via autosomal recessive inheritance (10-20% of cases worldwide). The symptoms of the two diseases are not dependent upon one another; with cases of patients either having complete loss of both visual and auditory function, loss of strictly visual function with no hearing loss, or loss of hearing with no loss of visual function. RP is insidious in nature – in that it begins to slowly degenerate the vision of an individual over a period of time, and thus presents with varying symptoms as the disease progresses. Due to the varying genetic mutations that RP can be linked to, researchers do not know of an exact pathology that can be attributed to all cases found in individuals, which makes the disease all the more difficult to cure. Many researchers have looked to counteract the onset/progression of RP via a plethora of methods such as gene therapy, cell therapy, antioxidant medication and even retinal prostheses based on the many theories of how the genetic mutations lead to a multitude of stressed within the patients eye (metabolic, trophic and oxidative stress).

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