Schubert-Bornschein complete Congenital Stationary Night Blindness (SB-CSNB1) and tilted disc syndrome. A case report


Journal Article

We describe a case of Schubert-Bornschein Congenital Stationary Night Blindness of complete type (SB-CSNB1) associated with severely tilted discs. CSNB diagnosis was achieved on the basis of historical (stationary nyctalopia) and clinical data (high myopia, nystagmus), along with a complete electroretinographic survey that included rod and cone ERGs, maximal ERG response and Oscillatory Potentials. Visual Evoked Potentials (VEPs) disclosed severe abnormalities, suggestive of either an anomaly in the optic pathway array, or of an overall impaired perception, integration and transmission of patterned stimuli. VEP abnormalities could be related to the dysplastic appearance and severe tilting of both optic discs, a condition that has been seldom documented in CSNB patients. Appropriate diagnostic procedures appear to be essential to come to a precise diagnosis and give a correct prognosis to both affected individuals and their relatives.

Duke Authors

Cited Authors

  • Mutolo, PA; Ciccarelli, ML; Iannaccone, A

Published Date

  • October 12, 1994

Published In

Volume / Issue

  • 120 / 7

Start / End Page

  • 421 - 431

International Standard Serial Number (ISSN)

  • 0003-4665

Citation Source

  • Scopus