Investigative ophthalmology & visual science۲۰۲۵۲ استنادنمایه شده در PubMed
Gilad Allon, Siying Lin, Anthony G Robson, Gavin Arno, Magella M Neveu, Pirro G Hysi, Michel Michaelides, Andrew R Webster, Omar A Mahroo
چکیده
To report findings in GUCA1A-associated retinopathy, a rare autosomal-dominant retinopathy. Clinical features and investigations from molecularly confirmed patients at a large referral center were analyzed (retrospective cohort study). Nineteen patients (14 families), with five different variants,…
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DOI: 10.1167/iovs.66.2.50