X-linked congenital stationary night blindness with myopia and nystagmus without clinical complaints of nyctalopia.
Seven of eight patients presented initially or were followed for decreased acuity and nystagmus without complaints of night blindness. The diagnosis of congenital stationary night blindness was established with electroretinogram and dark adaptation testing. Careful electrodiagnostic testing is needed to provide accurate genetic counseling. Two patients showed pupillary constriction to darkness which is a sign of retinal disease in young patients.
Price
M J
MJ
Department of Ophthalmology, Boston University, Massachusetts.
Judisch
G F
GF
Thompson
H S
HS
D000293:Adolescent; D000328:Adult; D002648:Child; D002875:Chromosomes; D004596:Electroretinography; D008040:Genetic Linkage; D006801:Humans; D009216:Myopia / Q000150:complications*; D009755:Night Blindness / Q000150:complications / Q000151:congenital / Q000235:genetics*; D009759:Nystagmus, Pathologic / Q000150:complications*; D010375:Pedigree