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The Journal of Neuroscience, October 1, 2003, 23(26):8921-8930

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Behavioral/Systems/Cognitive
Organization of the Visual Cortex in Human Albinism

Michael B. Hoffmann,¹ David J. Tolhurst,² Anthony T. Moore,³ and Antony B. Morland¹

¹Department of Psychology, Royal Holloway, University of London, Egham, Surrey TW20 OEX, United Kingdom, ²Department of Physiology, University of Cambridge, Cambridge CB2 3EG, United Kingdom, and ³Institute of Ophthalmology, University College, London EC1V 9EL, United Kingdom

In albinism there is an abnormal projection of part of the temporal retina to the visual cortex contralateral to the eye. This projection, together with the normally routed fibers from nasal retina, provides a cortical hemisphere with visual input from more than the normal hemifield of visual space. In many mammalian models of albinism, a possible sensory mismatch in the visual cortex is avoided either by reorganization of the thalamocortical connections to give the abnormal input an exclusive cortical representation, or by the abnormal input being substantially suppressed. In this study we examine, with fMRI, how the human visual cortex topographically maps its input in albinism. We find that the input from temporal retina is not substantially suppressed and forms a retinotopic mapping that is superimposed on the mapping of the nasal retina in striate and extrastriate areas. The abnormal routing of temporal fibers is not total, with the line of decussation shifting to between 6 and 14° into temporal retina. Our results indicate that the abnormal input to visual cortex in human albinism does not undergo topographic reorganization between the thalamus and cortex. Furthermore, the abnormal input is not significantly suppressed in either striate or extrastriate areas. The topographic mapping that we report in human does not conform, therefore, to the commonly observed patterns in other mammals but takes the form of the "true albino" pattern that has been reported rarely in cat and in the only other individual primate studied.

Key words: albino; decussation; chiasm; visual cortex; visual areas; retinotopic mapping; fMRI; human

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Received March 24, 2003; revised August 11, 2003; accepted August 11, 2003.

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