Congenital stationary night blindness [17 genes]

Congenital stationary night blindness is characterized by reduced visual acuity ranging from 20/30 to 20/200, defective visual adaptation to darkness, refractive errors (typically myopia of varying degrees), nystagmus, strabismus, normal color vision, and normal examination of the fundus. The disease is characterized by an electroretinogram and presents reduced b-scotopic wave amplitudes in response to bright flashes after dark adaptation. The resulting waveform is essentially a negative waveform, called a Schubert-Bornschein waveform.

Unknown

If this entity is considered, it is recommended to request the Congenital Stationary Night Blindness service, despite suspecting one or more specific entities based on the pattern of the electroretinogram or the inheritance evident in the family, to minimize the need for subsequent extensions of the study.

It is recommended to request the Congenital Stationary Night Blindness service when this disease is suspected based on the clinical history, the pattern observed in the electroretinogram, and the family history if applicable.