A Case of Alport's Syndrome with Nyctalopia

Abstract

We aimed to present a case with nyctalopia and electrophysiological abnormalities who was diagnosed as Alport's syndrome in childhood. The patient was a 24-year-old woman with a history of nyctalopia for the last one year. Fundus examination revealed normal morphology. On electrophysiological studies, patern visual-evoked potentials (VEP) and electro-oculography (EOG) were normal, but electroretinography (ERG) revealed moderate reduction of rod and cone responses. This case report indicates that subnormal ERG may accompany night vision difficulties which suggests photoreceptor degeneration in patients with Alport syndrome, despite normal visual acuity and fundus appearance.

Özet

Elektrofizyolojik anormallikler ile seyreden Alport sendromlu 24 yaşında bir hanım olgu sunulmuştur