Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene)

Autor: Sagnik Sen, Michel Michaelides, Andrew R Webster, Konstantinos Balaskas, Kaoru Fujinami, Manuel Gomes, Nikolas Pontikos, Susan M Downes, Malena Daich Varela, Omar A Mahroo, Thales Antonio Cabral de Guimaraes, Stephen Archer, Gavin Arno, Mital Shah, Savita Madhusudhan, Quang Nguyen, William Woof, Nathaniel Kabiri, Dayyanah Sumodhee, Ismail Moghul, Saoud Al-Khuzaei, Yichen Liu, Catherine Hollyhead, Bhavna Tailor, Loy Lobo, Carl Veal, Jennifer Furman

Publikováno v: BMJ Open, Vol 13, Iss 3 (2023)

Introduction Inherited retinal diseases (IRD) are a leading cause of visual impairment and blindness in the working age population. Mutations in over 300 genes have been found to be associated with IRDs and identifying the affected gene in patients b

Externí odkaz: https://doaj.org/article/5945d6aef20f41bfa056c55a51aabb6a

Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene)

Autor: Quang Nguyen, William Woof, Nathaniel Kabiri, Sagnik Sen, Malena Daich Varela, Thales Antonio Cabral De Guimaraes, Mital Shah, Dayyanah Sumodhee, Ismail Moghul, Saoud Al-Khuzaei, Yichen Liu, Catherine Hollyhead, Bhavna Tailor, Loy Lobo, Carl Veal, Stephen Archer, Jennifer Furman, Gavin Arno, Manuel Gomes, Kaoru Fujinami, Savita Madhusudhan, Omar A Mahroo, Andrew R Webster, Konstantinos Balaskas, Susan M Downes, Michel Michaelides, Nikolas Pontikos

Publikováno v: BMJ Open. 13:e071043

IntroductionInherited retinal diseases (IRD) are a leading cause of visual impairment and blindness in the working age population. Mutations in over 300 genes have been found to be associated with IRDs and identifying the affected gene in patients by

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2703f37fde21227e0601cf0bae0488a8
https://doi.org/10.1136/bmjopen-2022-071043

Collaborative Research and Development of a Novel, Patient-Centered Digital Platform (MyEyeSite) for Rare Inherited Retinal Disease Data: Acceptability and Feasibility Study

Autor: Andrew R. Webster, Nick Nettleton, Nikolas Pontikos, Rose Gilbert, Sam Scarles, Jocelyn Cammack, Dayyanah Sumodhee, Rodrigo M. Young, Catherine Hollyhead, Angus Patrick, Sabrina Van Der Smissen

Publikováno v: Gilbert, R M, Sumodhee, D, Pontikos, N, Hollyhead, C, Patrick, A, Scarles, S, Van Der Smissen, S, Young, R M, Nettleton, N, Webster, A R & Cammack, J 2022, ' Collaborative Research and Development of a Novel, Patient-Centered Digital Platform (MyEyeSite) for Rare Inherited Retinal Disease Data: Acceptability and Feasibility Study ', JMIR Formative Research, vol. 6, no. 1, e21341 . https://doi.org/10.2196/21341

Background Inherited retinal diseases (IRDs) are a leading cause of blindness in children and working age adults in the United Kingdom and other countries, with an appreciable socioeconomic impact. However, by definition, IRD data are individually ra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7aa3d276fd6ff44f772d7a86dab9d139
https://doi.org/10.2196/21341