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Updated: Jun 23, 2026
09:11
Retinal Pathophysiological Evaluation in a Rat Model
Published on: May 6, 2022
Genetic and clinical evaluation of juvenile retinoschisis
Judy E Kim1, Mark S Ruttum, Matthew J Koeberl
1Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA. judykim@mcw.edu
Abstract:
Juvenile retinoschisis is a rare retinal dystrophy caused by RS1 gene mutations.(1) Clinical examinations and molecular testing definitively diagnosed juvenile retinoschisis in 2 male infants, one of whom had a novel mutation not previously reported in the United States. Genetic testing may be the simplest way to confirm this diagnosis in infants.
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