Genetic and clinical evaluation of juvenile retinoschisis.
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.
Kim
Judy E
JE
Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA. judykim@mcw.edu
Ruttum
Mark S
MS
Koeberl
Matthew J
MJ
Hassemer
Eryn L
EL
Sidjanin
D J
DJ
D005136:Eye Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008266:Macula Lutea / Q000473:pathology; D008297:Male; D020125:Mutation, Missense; D041441:Retinoschisis / Q000235:genetics* / Q000473:pathology*; D041623:Tomography, Optical Coherence; D014922:Wisconsin
D005136:Eye Proteins; C108726:RS1 protein, human