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Originally published In Press as doi:10.1167/iovs.08-2715 on March 11, 2009
 (Investigative Ophthalmology and Visual Science. 2009;50:3553-3561.)
© 2009 by The Association for Research in Vision and Ophthalmology, Inc.
doi:10.1167/iovs.08-2715
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Clinicopathological Case Series of Four Patients with Inherited Macular Disease

Louisa Wickham,1 Fred K. Chen,1,2 Geoffrey P. Lewis,3 Germit S. Uppal,1 Magella M. Neveu,4 Genevieve A. Wright,1 Anthony G. Robson,4 Andrew R. Webster,2 Iain Grierson,5 Paul Hiscott,5 Peter J. Coffey,2 Graham E. Holder,4 Steven K. Fisher,3 and Lyndon Da Cruz1

1From the Departments of Vitreoretinal Surgery and 4Electrophysiology, Moorfields Eye Hospital, London, United Kingdom; the 2Department of Cellular Therapy, UCL Institute of Ophthalmology, London, United Kingdom; the 3Neuroscience Research Institute, University of California, Santa Barbara, California; and the 5Unit of Ophthalmology, Department of Medicine, University of Liverpool, Liverpool, United Kingdom.

PURPOSE. To correlate the phenotype of four patients with inherited macular disease with the immunohistopathology of retinal tissue collected at the time of retinal pigment epithelium (RPE)–choroidal transplantation.

METHODS. A clinicopathologic case series describing the phenotype of four patients, including confocal immunohistochemistry and electron microscopy (EM), and the results of genetic testing.

RESULTS. In Case 1, electrophysiology showed only macular dysfunction. Confocal microscopy revealed minor abnormalities. EM showed abnormal cone inner segments with swollen mitochondria. In case 2 (R172W mutation in RDS), electrophysiology demonstrated generalized cone system dysfunction with severe macular involvement. Peripherin labeling of outer segments was nonuniform, and EM showed discs arranged in whorllike structures. Case 3 showed severe central macular dysfunction on multifocal electroretinogram (ERG). Peripherin staining was irregular and disorganized. EM revealed abnormal inner segment morphology, particularly in rods, and disorganized irregular outer segments. Case 4 had localized central macular dysfunction on multifocal ERG. Confocal microscopy was grossly normal, with evidence of early redistribution of cone opsin to the inner segment. EM showed variable rod morphology and normal cones.

CONCLUSIONS. RPE transplantation provides a unique opportunity to gain insight into retinal disorders by enabling phenotypic correlation with the immunohistopathology of retinal tissue collected during surgery.






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