TY - JOUR
T1 - Retinitis Pigmentosa
T2 - Current Clinical Management and Emerging Therapies
AU - Nguyen, Xuan-Thanh-An
AU - Moekotte, Lude
AU - Plomp, Astrid S.
AU - Bergen, Arthur A.
AU - van Genderen, Maria M.
AU - Boon, Camiel J. F.
N1 - Publisher Copyright:
© 2023 by the authors.
PY - 2023/4/1
Y1 - 2023/4/1
N2 - Retinitis pigmentosa (RP) comprises a group of inherited retinal dystrophies characterized by the degeneration of rod photoreceptors, followed by the degeneration of cone photoreceptors. As a result of photoreceptor degeneration, affected individuals experience gradual loss of visual function, with primary symptoms of progressive nyctalopia, constricted visual fields and, ultimately, central vision loss. The onset, severity and clinical course of RP shows great variability and unpredictability, with most patients already experiencing some degree of visual disability in childhood. While RP is currently untreatable for the majority of patients, significant efforts have been made in the development of genetic therapies, which offer new hope for treatment for patients affected by inherited retinal dystrophies. In this exciting era of emerging gene therapies, it remains imperative to continue supporting patients with RP using all available options to manage their condition. Patients with RP experience a wide variety of physical, mental and social-emotional difficulties during their lifetime, of which some require timely intervention. This review aims to familiarize readers with clinical management options that are currently available for patients with RP.
AB - Retinitis pigmentosa (RP) comprises a group of inherited retinal dystrophies characterized by the degeneration of rod photoreceptors, followed by the degeneration of cone photoreceptors. As a result of photoreceptor degeneration, affected individuals experience gradual loss of visual function, with primary symptoms of progressive nyctalopia, constricted visual fields and, ultimately, central vision loss. The onset, severity and clinical course of RP shows great variability and unpredictability, with most patients already experiencing some degree of visual disability in childhood. While RP is currently untreatable for the majority of patients, significant efforts have been made in the development of genetic therapies, which offer new hope for treatment for patients affected by inherited retinal dystrophies. In this exciting era of emerging gene therapies, it remains imperative to continue supporting patients with RP using all available options to manage their condition. Patients with RP experience a wide variety of physical, mental and social-emotional difficulties during their lifetime, of which some require timely intervention. This review aims to familiarize readers with clinical management options that are currently available for patients with RP.
KW - clinical management
KW - gene therapy
KW - genetic counseling
KW - genetics
KW - low vision
KW - low-vision rehabilitation
KW - retinitis pigmentosa
UR - http://www.scopus.com/inward/record.url?scp=85156161300&partnerID=8YFLogxK
U2 - 10.3390/ijms24087481
DO - 10.3390/ijms24087481
M3 - Review article
C2 - 37108642
SN - 1422-0067
VL - 24
JO - International Journal of Molecular Sciences
JF - International Journal of Molecular Sciences
IS - 8
M1 - 7481
ER -