Search

Search Results

1. Inherited Retinal Disease

   This book presents the latest knowledge and expert guidance on all aspects of inherited retinal diseases, including molecular genetics, diagnosis,...

   Hyeong-Gon Yu

   Book 2022
   

2. Prevalence of inherited retinal diseases in a large Egyptian cohort

   Background

   Inherited retinal diseases form a rare, highly heterogeneous group of genetic disorders characterized by retinal degeneration. It is...

   Caroline Atef Tawfik, Maged Maher Roshdy, Nancy Magdy Morris in BMC Ophthalmology

   Article Open access 20 October 2023
   

3. Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico

   Background

   Inherited retinal dystrophies are hereditary diseases which have in common the progressive degeneration of photoreceptors. They are a group...

   Rocio A. Villafuerte-de la Cruz, Lucas A. Garza-Garza, ... Augusto Rojas-Martinez in BMC Ophthalmology

   Article Open access 12 February 2024
   

4. A cross-sectional study to assess the clinical utility of modern visual function assessments in patients with inherited retinal disease: a mixed methods observational study protocol

   Background

   Treatment options for patients with inherited retinal disease are limited, although research into novel therapies is underway. To ensure...

   Laura J. Taylor, Amandeep S. Josan, ... Robert E. MacLaren in BMC Ophthalmology

   Article Open access 24 May 2023
   

5. Prevalence and optical coherence tomography analyses of outer retinal tubulations in Chinese population with inherited retinal diseases

   Background

   To investigate the prevalence of outer retinal tubulation (ORT) and its correlations with optical coherence tomography (OCT) parameters in...

   Yuhong Chen, Jieqiong Chen, ... **aodong Sun in Eye

   Article 08 August 2023
   

6. The economic burden of inherited retinal disease in Singapore: a prevalence-based cost-of-illness study

   Objective

   To assess the economic impact of inherited retinal disease (IRD) among Singaporeans.

   Methods

   IRD prevalence was calculated using...

   Junxing Chay, Rachael Wei Chao Tang, ... Beau J. Fenner in Eye

   Article 10 June 2023

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

   This comprehensive review provides a thorough examination of inherited retinal diseases (IRDs), encompassing their classification, genetic...

   Anand Singh Brar, Deepika C. Parameswarappa, ... Srikanta Kumar Padhy in Ophthalmology and Therapy

   Article Open access 19 December 2023
   

8. The socioeconomic epidemiology of inherited retinal diseases in Portugal

   Background

   Inherited retinal diseases (IRDs) are a group of rare degenerative disorders of the retina that can lead to blindness from birth to late...

   Ana Marta, João Pedro Marques, ... João Melo Beirão in Orphanet Journal of Rare Diseases

   Article Open access 09 April 2024
   

9. The State of Patient-Reported Outcome Measures for Pediatric Patients with Inherited Retinal Disease

   Patient-reported outcome measures (PROMs) are questionnaires that assess health outcomes meaningful to the patient. PROMs have multiple applications,...

   Kavin Selvan, Maria F. Abalem, ... Elise Héon in Ophthalmology and Therapy

   Article Open access 30 April 2022
   

10. Cost-of-illness studies of inherited retinal diseases: a systematic review

    Background

    While health care and societal costs are routinely modelled for most diseases, there is a paucity of comprehensive data and cost-of-illness...

    Qin **ang Ng, Clarence Ong, ... Gerald Choon Huat Koh in Orphanet Journal of Rare Diseases

    Article Open access 29 February 2024
    

11. A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023

    Background

    Inherited retinal degenerations (IRDs) are a group of rare genetic conditions affecting retina of the eye that range in prevalence from 1...

    Asad Munir, Salma Afsar, Atta Ur Rehman in BMC Ophthalmology

    Article Open access 05 February 2024
    

12. Choroidal structure investigated by choroidal vascularity index in patients with inherited retinal diseases

    Purpose

    To evaluate the choroidal structure in patients with inherited retinal diseases (IRDs) by investigating the choroidal vascularity index (CVI).

    ...

    Kia Bayat, Kiana Hassanpour, ... Hamid Ahmadieh in International Journal of Retina and Vitreous

    Article Open access 28 March 2023
    

13. Dual-AAV split prime editor corrects the mutation and phenotype in mice with inherited retinal degeneration

    The prime editor (PE) can edit genomes with almost any intended changes, including all 12 possible types of base substitutions, small insertions and...

    Kaiqin She, Yi Liu, ... Yang Yang in Signal Transduction and Targeted Therapy

    Article Open access 06 February 2023
    

14. Artificial intelligence in retinal disease: clinical application, challenges, and future directions

    Retinal diseases are a leading cause of blindness in developed countries, accounting for the largest share of visually impaired children, working-age...

    Malena Daich Varela, Sagnik Sen, ... Michel Michaelides in Graefe's Archive for Clinical and Experimental Ophthalmology

    Article Open access 09 May 2023
    

15. Retinal gene therapy in RPE-65 gene mediated inherited retinal dystrophy

    Background

    Voretigene neparvovec (VN) is a gene therapeutic agent for treatment of retinal dystrophies caused by bi-allelic RPE65 mutations. We...

    Assad Jalil, Tsveta Ivanova, ... Graeme C. M. Black in Eye

    Article 26 September 2022
    

16. Inherited Retinal Dystrophy and Quality of Life Questionnaire: a Sco** Review

    The evaluation of the quality of life of people with severe eye disease has been an increasingly frequent practice and incorporated into traditional...

    C F C Vasconcellos, M V Salles, ... J P C Vasconcellos in SN Comprehensive Clinical Medicine

    Article 25 April 2022
    

17. Whole genome sequencing for inherited retinal diseases in the Korean National Project of Bio Big Data

    Purpose

    This study aimed to analyze the genetic results of inherited retinal diseases (IRDs) and evaluate the diagnostic usefulness of whole genome...

    Richul Oh, Se Joon Woo, Kwangsic Joo in Graefe's Archive for Clinical and Experimental Ophthalmology

    Article 10 November 2023
    

18. Optical coherence tomography biomarkers in MYO7A-inherited retinal dystrophy: longitudinal study in pediatric patients

    Purpose

    This study aims to answer a key question: is MYO7A -inherited retinal dystrophy ( MYO7A -IRD) a photoreceptor-first or retinal pigment...

    Olaia Subirà, Jaume Català-Mora, ... Josep M. Caminal in Graefe's Archive for Clinical and Experimental Ophthalmology

    Article 13 June 2024
    

19. A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice

    Background

    Non-syndromic inherited retinal dystrophies (IRDs) such as retinitis pigmentosa or Leber congenital amaurosis generally manifest between...

    Vittoria Murro, Sandro Banfi, ... Francesca Simonelli in Orphanet Journal of Rare Diseases

    Article Open access 31 July 2023
    

20. Genetic testing and diagnosis of inherited retinal diseases

    Inherited retinal diseases (IRDs) are a diverse group of degenerative diseases of the retina that can lead to significant reduction in vision and...

    Byron L. Lam, Bart P. Leroy, ... Karmen Trzupek in Orphanet Journal of Rare Diseases

    Article Open access 14 December 2021