Susan M. Downes
United KingdomResearch Interests
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Articles (6)
Year:
2024
X-linked retinoschisis (XLRS) is the most common juvenile macular degeneration in males. Unlike most other X-linked retinal dystrophies, carrier heterozygous females are very rarely reported to show clinical features of the disease. Herein, we describe unusual retinal features in a 2-year-old female infant with family history and genetic testing consistent with XLRS.
Year:
2023
Year:
2023
Year:
2022
Year:
2021
Year:
2020
Collaborators (13)
Andrea L. Vincent
-
Christopher Inglehearn
University of Leeds
Carmen Ayuso
-
Elfride De Baere
-
Jasleen Jolly
Associate Professor
Anglia Ruskin University
Carlo Rivolta
Professor of Ophthalmic Genetics
University of Basel
Marianthi Karali
Telethon Institute of Genetics and Medicine
Petra Liskova
Charles University in Prague
Jane Farrar
Head of School
Trinity College Dublin
Michael Gorin
Professor
University of California, Los Angeles
Jing Yu
University of Oxford
Sandro BANFI
University of Campania “Luigi Vanvitelli”
Lubica Dudakova
Charles University
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