The British journal of ophthalmology۲۰۲۵۵ استنادنمایه شده در PubMed
Wendy Wong, Dayyanah Sumodhee, Tiyi Morris, Bhavna Tailor, Catherine Hollyhead, William A Woof, Stephen Archer, Carl Veal, Loy Lobo, Saoud Al-Khuzaei, Malena Daich Varela, Thales A C de Guimaraes, Manuel Gomes, Mital Shah, Mariya Moosajee, Susan M Downes, Savita Madhusudhan, Omar A Mahroo, Andrew R Webster, Michel Michaelides, Nikolas Pontikos
چکیده
Inherited retinal diseases (IRDs) are the leading cause of blindness in young people in the UK. Despite significant improvements in genomics medicine, the diagnosis of these conditions remains challenging, and around 40% do not receive a definite genetic diagnosis after extensive genetic testing.…
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DOI: 10.1136/bjo-2024-327074