Choroideremia: the endpoint endgame

MEA Abdalla Elsayed, LJ Taylor, AS Josan… - International Journal of …, 2023 - mdpi.com
Choroideremia is an X-linked retinal degeneration resulting from the progressive, centripetal
loss of photoreceptors and choriocapillaris, secondary to the degeneration of the retinal …

Survey of perspectives of people with inherited retinal diseases on ocular gene therapy in Australia

HG Mack, AC Britten-Jones, MB McGuinness, FK Chen… - Gene Therapy, 2023 - nature.com
Many gene therapies are in development for treating people with inherited retinal diseases
(IRD). We hypothesized that potential recipients of gene therapy would have knowledge …

The health care and societal costs of inherited retinal diseases in Australia: a microsimulation modelling study

D Schofield, J Kraindler, O Tan… - Medical Journal of …, 2023 - Wiley Online Library
Objectives To estimate the health care and societal costs of inherited retinal diseases (IRDs)
in Australia. Design, setting, participants Microsimulation modelling study based on primary …

Quality of life in patients with CRB1‐associated retinal dystrophies: A longitudinal study

JS Karuntu, XTA Nguyen, M Talib… - Acta …, 2024 - Wiley Online Library
Purpose To assess the longitudinal vision‐related quality of life among patients with CRB1‐
associated inherited retinal dystrophies. Methods In this longitudinal questionnaire study …

Gene Therapy for Inherited Retinal Diseases: From Laboratory Bench to Patient Bedside and Beyond

AS Brar, DC Parameswarappa, B Takkar… - Ophthalmology and …, 2024 - Springer
This comprehensive review provides a thorough examination of inherited retinal diseases
(IRDs), encompassing their classification, genetic underpinnings, and the promising …

EQ‐5D‐5L health utility scores in Australian adults with inherited retinal diseases: A cross‐sectional survey

MB McGuinness, LN Ayton, D Schofield… - Acta …, 2024 - Wiley Online Library
Purpose Economic evaluations of interventions for ocular disease require utility scores that
accurately represent quality of life in the target population. This study aimed to describe the …

RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod–Cone Dystrophy: Potential Founder Effect in Western Sicily

F D'Esposito, V Randazzo, MI Vega, G Esposito… - Medicina, 2024 - mdpi.com
Background and Objectives. Retinitis pigmentosa (RP) is the most common inherited rod–
cone dystrophy (RCD), resulting in nyctalopia, progressive visual field, and visual acuity …

Impact of an immersive, interactive medical education initiative on guideline-based retinal disease management knowledge/competence and effectual practice …

RP Singh, L Welch, NL Longo, M Frese - BMC ophthalmology, 2023 - Springer
Background Retinal diseases, including wet or dry age-related macular degeneration,
diabetic macular edema, and diabetic retinopathy (DR), are underdiagnosed and …

Choroideremia: The Endpoint Endgame

L Taylor, A Josan, M Fischer… - International Journal of …, 2023 - europepmc.org
Choroideremia is an X-linked retinal degeneration resulting from the progressive, centripetal
loss of photoreceptors and choriocapillaris, secondary to the degeneration of the retinal …

[图书][B] Attitudes and Informational Needs Towards Somatic Gene Therapy; A Survey of Stakeholders Affected by Inherited Retinal Disorders

AM Shrewsbury - 2023 - search.proquest.com
The recent exponential development of gene-based therapies for the treatment of genetic
conditions underpins the importance of understanding the attitudes and information needs of …