Genetic and clinical evaluation of juvenile retinoschisis. J AAPOS 2009 Apr;13(2):215-7
Date
04/28/2009Pubmed ID
19393523Pubmed Central ID
PMC3926297DOI
10.1016/j.jaapos.2008.11.005Scopus ID
2-s2.0-64749084909 (requires institutional sign-in at Scopus site) 5 CitationsAbstract
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.
Author List
Kim JE, Ruttum MS, Koeberl MJ, Hassemer EL, Sidjanin DJAuthor
Danielle Sidjanin Maier PhD Nurse Practitioner in the Medicine department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Eye ProteinsHumans
Infant
Macula Lutea
Male
Mutation, Missense
Retinoschisis
Tomography, Optical Coherence
Wisconsin
