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Cone Dystrophy, Nyctalopia, and Supernormal Rod ResponsesA New Retinal Degeneration
Peter Gouras, MD;
Howard M. Eggers, MD;
Cynthia J. MacKay, MD
Arch Ophthalmol. 1983;101(5):718-724.
Abstract
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• An unusual retinal degeneration considered to be inherited as an autosomal recessive trait occurred in two of four children in a Hispanic family. The abnormality causes a progressive and generalized loss of cone vision, including decreased acuity, decreased color vision, central scotomas to small test objects, photo-phobia, and a profound diminution of the cone-mediated electroretinographic (ERG) pattern. A loss of the foveal reflex and an increased granularity of the macula is seen funduscopically. In addition, there is a most unusual alteration of the rod system detectable in the rodmediated ERG pattern. This rod response is supernormal in amplitude (>1,000 µV, extrapolated), delayed in time course, and insensitive to dim stimuli, ie, the function relating response to light intensity has been drastically altered. The insensitivity to dim stimuli is accompanied by a mild nyctalopia. Some of these abnormalities could be caused by a defect in the retinal enzyme, cyclic nucleotide phosphodiesterase.
Author Affiliations
From the Department of Ophthalmology, Columbia University College of Physicians and Surgeons, New York.
Footnotes
Accepted for publication May 30, 1982.
Reprint requests to Department of Ophthalmology, Columbia University College of Physicians and Surgeons, 630 W 168th St, New York, NY 10032 (Dr Gouras).
This research was supported by grant EY-04138 from the National Institutes of Health and by grants from the Foundation of St Giles the Cripple, The National Retinitis Pigmentosa Foundation, and Fight for Sight, Ine (in support of the Fight for Sight Children's Eye Clinic at Columbia Presbyterian Medical Center, New York).
Dr Mark Stern referred the propositus to the Gaisman Electrophysiology Service at the Edward S. Harkness Eye Institute at Columbia University for examination. K. A. Yeboa, MD, evaluated the skeletal appearance of the patients. George Stefano, PhD, determined the cyclic guanosine monophosphate and cyclic adenosine monophosphate levels in the blood and urine samples of four children in duplicate in this family and in eight normal children of comparable ages. James Haley, PhD, assisted in the biochemical evaluation of the results. Anne Leitch provided secretarial assistance. Robert Massini performed the fundus photography. Heinz Rosskothen provided technical assistance. Terry Mouhtaris performed the visual field examinations.
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