Retinitis pigmentosa: current clinical management and emerging therapies

XTA Nguyen, L Moekotte, AS Plomp… - International Journal of …, 2023 - mdpi.com
Retinitis pigmentosa (RP) comprises a group of inherited retinal dystrophies characterized
by the degeneration of rod photoreceptors, followed by the degeneration of cone …

[HTML][HTML] The X-linked retinopathies: physiological insights, pathogenic mechanisms, phenotypic features and novel therapies

SR De Silva, G Arno, AG Robson, A Fakin… - Progress in retinal and …, 2021 - Elsevier
X-linked retinopathies represent a significant proportion of monogenic retinal disease. They
include progressive and stationary conditions, with and without syndromic features. Many …

Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia

K Xue, JK Jolly, AR Barnard, A Rudenko, AP Salvetti… - Nature medicine, 2018 - nature.com
Retinal gene therapy is increasingly recognized as a novel molecular intervention that has
huge potential in treating common causes of blindness, the majority of which have a genetic …

Technique of retinal gene therapy: delivery of viral vector into the subretinal space

K Xue, M Groppe, AP Salvetti, RE MacLaren - Eye, 2017 - nature.com
Purpose Safe and reproducible delivery of gene therapy vector into the subretinal space is
essential for successful targeting of the retinal pigment epithelium (RPE) and …

Optical coherence tomography and histology of age-related macular degeneration support mitochondria as reflectivity sources

KM Litts, Y Zhang, KB Freund, CA Curcio - Retina, 2018 - journals.lww.com
Purpose: Widespread adoption of optical coherence tomography has revolutionized the
diagnosis and management of retinal disease. If the cellular and subcellular sources of …

Natural history of the central structural abnormalities in choroideremia: a prospective cross-sectional study

TS Aleman, G Han, LW Serrano, NM Fuerst… - Ophthalmology, 2017 - Elsevier
Purpose To describe in detail the central retinal structure of a large group of patients with
choroideremia (CHM). Design A prospective, cross-sectional, descriptive study. Participants …

Characterizing the natural history of visual function in choroideremia using microperimetry and multimodal retinal imaging

JK Jolly, K Xue, TL Edwards, M Groppe… - … & visual science, 2017 - iovs.arvojournals.org
Purpose: Centripetal retinal degeneration in choroideremia (CHM) leads to early visual field
restriction and late central vision loss. The latter marks an acute decline in quality of life but …

Intravitreal, subretinal, and suprachoroidal injections: evolution of microneedles for drug delivery

RR Hartman, UB Kompella - Journal of Ocular Pharmacology and …, 2018 - liebertpub.com
Even though the very thought of an injection into the eye may be frightening, an estimated 6
million intravitreal (IVT) injections were made in the USA during 2016. With the introduction …

Choroideremia: from genetic and clinical phenoty** to gene therapy and future treatments

A Mitsios, AM Dubis… - Therapeutic advances in …, 2018 - journals.sagepub.com
Choroideremia is an X-linked inherited chorioretinal dystrophy leading to blindness by late
adulthood. Choroideremia is caused by mutations in the CHM gene which encodes Rab …

The evolution of outer retinal tubulation, a neurodegeneration and gliosis prominent in macular diseases

R Dolz-Marco, KM Litts, ACS Tan, KB Freund… - Ophthalmology, 2017 - Elsevier
Purpose To document outer retinal tubulation (ORT) formation in advanced retinal disorders.
Design Retrospective, observational study. Participants Consecutive cases with retinal …