Retinitis pigmentosa (RP), one of the leading causes of vision loss and
blindness globally, is a progressive retinal disease involving the degradation
of photoreceptors (7) and/or retinal pigment epithelial cells (14). Affecting
approximately 1 in 4000 people, RP is caused by a series of genetic mutations;
each specific mutation presents a specific pathological pattern in the patient,
with the same mutation even presenting in different phenotypes in different
patients (14). RP generally starts with peripheral vision loss, attacking the
rods first, causing nyctalopia or night blindness (22). In later stages of the
disease, the cones start to atrophy, further narrowing the field of vision and
obscuring central vision (22). Luckily, with recent advances in medical imaging
techniques and novel therapeutic treatments, both early detection and the
overall prognosis of RP in patients have improved dramatically in the past few
decades. This review will trace RP's physiological causes, how it affects
retinal and ocular physiology, the techniques through which we can diagnose and
image it, and the various treatments developed to try to combat it. The medical
imaging techniques to be discussed include but are not limited to adaptive
optics (AO), OCT including SD-OCT and OCTA, fundus autofluorescence (FAF) and
its associated fluorescence lifetime imaging ophthalmoscopy (FLIO), colour
Doppler flow imaging (CDFI), microperimetry, and MRI. The treatments to be
discussed include stem cell therapy, gene therapy, cell transplantation,
pharmacological therapy, and artificial retinal implants. Throughout this
review, it will be made evident of not just the severity and diversity through
which RP can present, but also the advanced made in medical imaging and
innovative treatments designed to combat this pathology.Comment: 39 pages, 23 figure