Is optic nerve fibre mis-routing a feature of congenital stationary night blindness?

Documenta Ophthalmologica. Advances in Ophthalmology
T UngK Bradshaw

Abstract

To determine whether patients with congenital stationary night blindness (CSNB) have electrophysiological evidence of optic nerve fibre mis-routing similar to that found in patients with ocular albinism (OA). We recorded the Pattern Onset VEP using a protocol optimised to detect mis-routing of optic nerve fibres in older children and adults. We tested 20 patients (age 15-69 yrs) with X-linked or autosomal recessive CSNB, 14 patients (age 9-56 yrs) with OA and 13 normally pigmented volunteers (age 21-66 yrs). We measured the amplitude and latency of the CI component at the occipital midline and over left and right occipital hemispheres. We also assessed the computed inter-hemispheric "difference" signal. Subjects with CSNB were classified as having the "complete" or "incomplete" phenotype on the basis of their ERG characteristics. Members of X-linked CSNB pedigrees underwent mutation screening of the NYX and CACNA1F genes. CI was significantly smaller over the ipsilateral hemisphere and more prominent over the contralateral hemisphere in OA patients compared with both controls and CSNB patients. In CSNB patients CI response amplitudes were not significantly different from controls but peak latency was prolonged at all three elec...Continue Reading

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Citations

Jul 31, 2007·Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft·M B HoffmannA B Morland
Dec 3, 2014·Trends in Neurosciences·Michael B Hoffmann, Serge O Dumoulin

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