Understanding the expectations of patients with inherited retinal dystrophies.

Understanding the expectations of patients with inherited retinal dystrophies.

BACKGROUND: UK genetic ophthalmology services for patients with retinal dystrophy (RD) are variable. Little research exists to define service requirements, or expectations, of patients and their families. This study aimed to explore the views and perceived benefits of genetic ophthalmology services...

Full description

Bibliographic Details
Main Authors:	Combs, R, Hall, G, Payne, K, Lowndes, J, Devery, S, Downes, S, Moore, A, Ramsden, S, Black, G, McAllister, M
Format:	Journal article
Language:	English
Published:	2013

Similar Items

Understanding the impact of genetic testing for inherited retinal dystrophy
by: Combs, R, et al.
Published: (2013)

Understanding the impact of genetic testing for inherited retinal dystrophy.
by: Combs, R, et al.
Published: (2013)

Barriers to developing services for molecular testing for retinal dystrophy
by: Hall, G, et al.
Published: (2011)

The Burden and Impact of Retinal Dystrophy on Patients: Lessons for Improving Genetic Eye Services
by: Combs, R, et al.
Published: (2011)

Unravelling the genetics of inherited retinal dystrophies: Past, present and future.
by: Broadgate, S, et al.
Published: (2017)

Isoxanthopterin Excretion of Rats with Inherited Retinal Dystrophy
by: Cremer-Bartels G., et al.
Published: (1990-05-01)

Management and treatment of inherited retinal dystrophies
by: Sarah R Levi, et al.
Published: (2021-01-01)

Retinal Inflammation, Cell Death and Inherited Retinal Dystrophies
by: Lorena Olivares-González, et al.
Published: (2021-02-01)

Innate and Autoimmunity in the Pathogenesis of Inherited Retinal Dystrophy
by: T.J. Hollingsworth, et al.
Published: (2020-03-01)

The genetic landscape of inherited retinal dystrophies in Arabs
by: Lama Jaffal, et al.
Published: (2023-05-01)

Updating the Genetic Landscape of Inherited Retinal Dystrophies
by: Belén García Bohórquez, et al.
Published: (2021-07-01)

Different Phenotypes in Pseudodominant Inherited Retinal Dystrophies
by: Imen Habibi, et al.
Published: (2021-02-01)

Relative frequency of inherited retinal dystrophies in Brazil
by: Fabiana Louise Motta, et al.
Published: (2018-10-01)

CRB1 mutation spectrum in inherited retinal dystrophies.
by: den Hollander, A, et al.
Published: (2004)

Application of Electrophysiology in Non-Macular Inherited Retinal Dystrophies
by: Yulia Haraguchi, et al.
Published: (2023-11-01)

Choroidal Thickness in Different Types of Inherited Retinal Dystrophies
by: Hamideh Sabbaghi, et al.
Published: (2020-08-01)

Identification of novel disease-causing genes in inherited retinal dystrophy
by: Merepa, SS
Published: (2021)

Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico
by: Rocio A. Villafuerte-de la Cruz, et al.
Published: (2024-02-01)

Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies
by: Andrew Manley, et al.
Published: (2023-02-01)

Editorial: Inherited retinal dystrophies: a light at the end of the tunnel?
by: Brian D. Perkins, et al.
Published: (2023-10-01)

The landscape of basic gene therapy approaches in inherited retinal dystrophies
by: Jianhua Xia, et al.
Published: (2023-06-01)

On the Wrong Track: Alterations of Ciliary Transport in Inherited Retinal Dystrophies
by: Laura Sánchez-Bellver, et al.
Published: (2021-03-01)

Reviewing the Role of Ultra-Widefield Imaging in Inherited Retinal Dystrophies
by: Maria Vittoria Cicinelli, et al.
Published: (2020-03-01)

Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies
by: Benjamin M. Nash, et al.
Published: (2022-03-01)

Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies
by: Bilal Azab, et al.
Published: (2021-04-01)

Descriptive Study of a Cohort of 488 Patients with Inherited Retinal Dystrophies
by: Coco-Martin RM, et al.
Published: (2021-03-01)

Progression of Rare Inherited Retinal Dystrophies May Be Monitored by Adaptive Optics Imaging
by: Katarzyna Samelska, et al.
Published: (2023-09-01)

Application of CRISPR Tools for Variant Interpretation and Disease Modeling in Inherited Retinal Dystrophies
by: Carla Fuster-García, et al.
Published: (2020-04-01)

Inherited Retinal Dystrophies: Role of Oxidative Stress and Inflammation in Their Physiopathology and Therapeutic Implications
by: Isabel Pinilla, et al.
Published: (2022-05-01)

Commentary: CRISPR gene editing for inherited retinal dystrophies: Towards clinical translation
by: Mayank Bansal, et al.
Published: (2022-01-01)

Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.
by: Marta de Castro-Miró, et al.
Published: (2014-01-01)

The Value of Electroretinography in Identifying Candidate Genes for Inherited Retinal Dystrophies: A Diagnostic Guide
by: Tsai-Hsuan Yang, et al.
Published: (2023-09-01)

Characteristics of Rare Inherited Retinal Dystrophies in Adaptive Optics—A Study on 53 Eyes
by: Katarzyna Samelska, et al.
Published: (2023-07-01)

Treatment of Inherited Retinal Dystrophies with Somatic Cell Therapy Medicinal Product: A Review
by: Giacomo Maria Bacci, et al.
Published: (2022-05-01)

Challenges and Opportunities in the Genetic Analysis of Inherited Retinal Dystrophies in Africa, a Literature Review
by: Oscar Onyango, et al.
Published: (2023-01-01)

Correction: Combined Genetic and High-Throughput Strategies for Molecular Diagnosis of Inherited Retinal Dystrophies
Published: (2014-01-01)

A pilot investigation of audiovisual processing and multisensory integration in patients with inherited retinal dystrophies
by: Mark H. Myers, et al.
Published: (2017-12-01)

Correction: Combined Genetic and High-Throughput Strategies for Molecular Diagnosis of Inherited Retinal Dystrophies.
Published: (2014-01-01)

Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies.
by: María González-del Pozo, et al.
Published: (2014-01-01)

A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023
by: Asad Munir, et al.
Published: (2024-02-01)