title: ERGs in female carriers of incomplete congenital stationary night blindness (I-CSNB). A family report.
abstract: ERG findings in five sisters are reported. By pedigree analysis, four of the five must be obligate carriers for I-CSNB since their sons were affected (impaired night vision, reduced visual acuity, variable ametropia, congenital nystagmus and ERG with both scotopic and photopic b-wave reduced amplitude). The fifth was childless at the time of examination and her ERG analysis was normal. Three of the four obligate carriers showed significant reduction in the sum of the OPs amplitude as previously reported as being an electrophysiological signs in female carriers: two without alteration in other ERG components and the third with association with a flicker ERG amplitude significantly increased. The fourth female carrier showed a normal sum of the OPs amplitude whereas the other b-wave ERG or flicker amplitudes were significantly decreased. These last two ERG results suggest a possible modifications of synaptic transmission at a post-receptoral site (outer plexiform layer or involvement of the bipolar pathways) in these two carriers.
authors.affiliation: Université Paris 7, UFR Lariboisière-Saint-Louis, Unité INSERM U-483, Service de Biophysique, Département Vision, Paris, France. rigaud@ext.jussieu.fr
authors.forename: Florence
authors.initials: F
authors.lastname: Rigaudière
authors.forename: Catherine
authors.initials: C
authors.lastname: Roux
authors.forename: Pierre
authors.initials: P
authors.lastname: Lachapelle
authors.forename: Serge G
authors.initials: SG
authors.lastname: Rosolen
authors.forename: Pierre
authors.initials: P
authors.lastname: Bitoun
authors.forename: Annie
authors.initials: A
authors.lastname: Gay-Duval
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Le Gargasson
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D004596:Electroretinography; D005260:Female; D006579:Heterozygote; D006801:Humans; D009755:Night Blindness / Q000151:congenital* / Q000235:genetics / Q000503:physiopathology*; D010375:Pedigree; D010775:Photic Stimulation / Q000379:methods; D012160:Retina / Q000503:physiopathology*