On- and off-responses of the photopic electroretinograms in X-linked juvenile retinoschisis

To examine the physiologic condition of the middle retinal layer of patients with X-linked juvenile retinoschisis (xlRS) by studying the on- and off-responses of the photopic electroretinograms (ERGs).

Eleven unrelated Japanese men (mean age; 24.9 +/- 7.6 years) who were clinically diagnosed with xlRS and molecularly confirmed as having XLRS1 mutations were investigated. For the photopic ERGs, the a-, b- and d-wave amplitudes elicited by long duration stimuli were recorded, and the responses from the xlRS patients were compared to those recorded from normal subjects (n = 14, mean age, 27.5 +/- 4.5 years). We also examined the relationship between the photopic ERG responses and the genotype.

No significant difference was found between the a- and d-wave amplitudes in the xlRS patients (34.2 +/- 8.7 microV, 52.5 +/- 10.4 microV, respectively), and those in normal subjects (40.4 +/- 10.3 microV, 44.7 +/- 6.3 microV, respectively). The mean b-wave amplitude in the xlRS patients was significantly smaller (10.5 +/- 7.7 microV) than the mean of normal subjects (46.4 +/- 10.2 microV) (P < 0.0001). No significant correlation was found between the ERG responses and the locus of the mutation.

The photopic ERG demonstrated considerable impairment of the on-pathway arising from an abnormality of the on-bipolar cells or possibly secondary to Müller cell abnormality in xlRS.