Congenital stationary night-blindness associated with myopia may be transmitted by two types of inheritance: X-linked recessive (Worth, 1906; Nettleship, 1909 and 1912; Kleiner, 1923) and autosomal recessive (Nettleship, 1912; Vogt, 1923; Gassler, 1925; Akiya, 1935; Merin et al, 1970). There are only a few reports of either variety. The present paper describes a family where 3 sibs are affected...

Mutations in NYX and CACNA1F gene are responsible for the X-linked congenital stationary night blindness (CSNB). In this study, we described the clinical characters of the two Chinese families with X-linked CSNB and detected two novel mutations of c. 371_377delGCTACCT and c.214A>C in the NYX gene by direct sequencing. These two mutations would expand the mutation spectrum of NYX. Our study woul...

ERG oscillatory potentials (OPs) were recorded from obligate carriers of CSNB and from age-matched normal subjects. The OPs were recorded under four stimulus conditions and were analyzed in the time and frequency domains. The results, first of all, provide confirmation of the previous report that the OP amplitude is reduced in carriers. Second, the results show that, of four stimulus conditions...

AIM To correlate the phenotype of X linked congenital stationary night blindness (CSNBX) with genotype. METHODS 11 CSNB families were diagnosed with the X linked form of the disease by clinical evaluation and mutation detection in either the NYX or CACNA1F gene. Phenotype of the CSNBX patients was defined by clinical examination, psychophysical, and standardised electrophysiological testing. ...

The visually evoked response (VER) to dim lights with intensities within the scotopic or lower mesopic range increased in amplitude during the progressive dark adaptation. The VER amplitude vs. time curve resembled the psychophysical dark adaptation curve. The spectral sensitivity curve of the dark-adapted VER matched the C.I.E. scotopic sensitivity curve. The dark-adapted VER was abnormal in p...

The luminance-response function of the brief flash full-field photopic electroretinogram (ERG) rises to a peak before falling to a sub-maximal plateau -- the 'photopic hill'. The combination of on- and off-responses inherent in the brief flash photopic ERG suggests that this luminance-response function could be modelled by the sum of a Gaussian function and a logistic growth function. Photopic ...

The amplitude of the leading edge of the a-wave of the human electroretinogram (ERG) was compared with predictions from a computational model of the light-induced responses of rod mammalian receptors. According to this model, a linear process describes the amplitude and time course of the response to relatively low flash intensities and at brief times after the onset of the flash. At higher fla...

AIMS The short wavelength sensitive (S) cone electroretinograms (ERGs) were examined in two patients with the complete type of congenital stationary night blindness (CSNB). METHODS Ganzfeld spectral flashes in the presence of strong white adapting fields were used to elicit the S cone ERGs. RESULTS The S cone ERG b-wave was not detectable to short wavelength stimuli, while the mixed long (L...