PURPOSE: 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). METHODS: 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. RESULTS: 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. CONCLUSION: 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.
PURPOSE: 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). METHODS: 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. RESULTS: 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. CONCLUSION: 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.
Authors: Robert L Chow; Bela Volgyi; Rachel K Szilard; David Ng; Colin McKerlie; Stewart A Bloomfield; David G Birch; Roderick R McInnes Journal: Proc Natl Acad Sci U S A Date: 2004-01-26 Impact factor: 11.205
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Authors: Agnes B Renner; Ulrich Kellner; Britta Fiebig; Elke Cropp; Michael H Foerster; Bernhard H F Weber Journal: Doc Ophthalmol Date: 2007-11-07 Impact factor: 2.379
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