[HTML][HTML] Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort
MD Varela, R Moya, RAS Amaral, PG Schlottmann… - Ophthalmology …, 2024 - Elsevier
Purpose To characterize the largest cohort of individuals with retinol dehydrogenase 12
(RDH12)-retinal dystrophy to date, and the first one from South America. Design
Retrospective multicenter international study. Subjects Seventy-eight patients (66 families)
with an inherited retinal dystrophy and biallelic variants in RDH12. Methods Review of
clinical notes, ophthalmic images, and molecular diagnosis. Main Outcome Measures Visual
function, retinal imaging, and characteristics were evaluated and correlated. Results Thirty …
(RDH12)-retinal dystrophy to date, and the first one from South America. Design
Retrospective multicenter international study. Subjects Seventy-eight patients (66 families)
with an inherited retinal dystrophy and biallelic variants in RDH12. Methods Review of
clinical notes, ophthalmic images, and molecular diagnosis. Main Outcome Measures Visual
function, retinal imaging, and characteristics were evaluated and correlated. Results Thirty …
Clinical and genetic characterization of RDH12-retinal dystrophy in a South American cohort
M Daich Varela, R Moya… - Ophthalmology …, 2023 - discovery.ucl.ac.uk
Purpose: To characterize the largest cohort of individuals with RDH12-retinal dystrophy to
date, and the first one from South America.//Design: Retrospective multicenter international
study.//Subjects: 78 patients (66 families) with an inherited retinal dystrophy and biallelic
variants in RDH12.//Methods: Review of clinical notes, ophthalmic images, and molecular
diagnosis.//Main outcome measures: Visual function, retinal imaging and characteristics
were evaluated and correlated.//Results: Thirty-seven individuals self-identified as Latino …
date, and the first one from South America.//Design: Retrospective multicenter international
study.//Subjects: 78 patients (66 families) with an inherited retinal dystrophy and biallelic
variants in RDH12.//Methods: Review of clinical notes, ophthalmic images, and molecular
diagnosis.//Main outcome measures: Visual function, retinal imaging and characteristics
were evaluated and correlated.//Results: Thirty-seven individuals self-identified as Latino …
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