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 …
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
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 …
(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
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 …
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 …
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 …
(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 …
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 …
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 …
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 …
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 …
conditions underpins the importance of understanding the attitudes and information needs of …