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Progressive Cone Degeneration, Dominantly Inherited

Progressive Cone Degeneration, Dominantly Inherited Abstract Psychophysical and electrophysiological techniques are used to evaluate a family with progressive cone degeneration. Affected patients have monophasic dark-adaptation curves with normal rod thresholds, absent color vision, and reduction or absence of the cone components with normal rod components in the electroretinogram (ERG). Scotopic luminosity curves and ERGs with scotopically balanced lights suggest that their rhodopsin has a normal absorption spectrum. The defect in the cone system does not appear to influence dark adaptation of the rod system. This report confirms the dominant genetic pattern of this disease. References 1. François, J., et al: Dégénérescense maculaire juvénile avec atteinte prédominante de la vision photopique , Ophthalmologica 131:393-402, 1956.Crossref 2. Steinmetz, R.D.; Ogle, K.N.; and Rucker, C.W.: Some Physiologic Considerations of Hereditary Macular Degeneration , Amer J Ophthal 42:304-317, 1956. 3. Sloan, L.L., and Brown, D.J.: Progressive Retinal Degeneration With Selective Involvement of the Cone Mechanism , Amer J Ophthal 54:629-641, 1962. 4. Goodman, G.; Ripps, H.; and Siegel, I.M.: Cone Dysfunction Syndromes , Arch Ophthal 70:214-231, 1963.Crossref 5. Carr, R.E., and Siegel, I.M.: Electrophysiological Aspects of Several Retinal Diseases , Amer J Ophthal 58:95-107, 1964. 6. Goodman, G., et al: " Progressive Cone Degeneration ," in Burian, H.M., and Jacobson, J.H. (ed.): Clinical Electroretinography, Proceedings of the Third International Symposium 1964 , Oxford, England: Pergamon Press Symposium Publication Division, 1966, pp 363-372. 7. Berson, E.L.; Gouras, P.; and Gunkel, R.D.: Rod Responses in Retinitis Pigmentosa, Dominantly Inherited , Arch Ophthal 80:58-67 ( (July) ) 1968.Crossref 8. Berson, E.L.; Gouras, P.; and Gunkel, R.D.: Progressive Cone-Rod Degeneration , Arch Ophthal 80:68-76 ( (July) ) 1968.Crossref 9. Hecht, S.: Rods, Cones and the Chemical Basis of Vision , Physiol Rev 17:239-290, 1937. 10. Dodt, E.: Cone Electroretinography by Flicker , Nature 168:738-739, 1951.Crossref 11. Dodt, E., and Wadensten, L.: The Use of Flicker Electroretinography in the Human Eye , Acta Ophthal 32:165-180, 1954.Crossref 12. Johnson, E.P., and Cornsweet, T.N.: Electroretinal Photopic Sensitivity Curves , Nature 174:614-616, 1954.Crossref 13. Adrian, E.D.: The Electric Response of the Human Eye , J Physiol 104:84-104, 1945. 14. Armington, J.C.; Johnson, E.P.; and Riggs, L.A.: The Scotopic A-Wave in the Electrical Responses of the Human Retina , J Physiol 118:289-298, 1952. 15. Riggs, L.A.; Johnson, E.P.; and Schick, A.M.L.: Electrical Responses of the Human Eye to Moving Stimulus Patterns , Science 144:567, 1964.Crossref 16. Johnson, E.P., et al: " Photopic Retinal Potentials Evoked by Phase Alternation of a Barred Pattern ," in Burian, H.M., and Jacobson, J.H. (eds.): Clinical Electroretinography, Proceedings of the Third International Symposium 1964 , Oxford, England: Pergamon Press Symposium Publication Division, 1966, pp 75-91. 17. Gouras, P.: Visual Adaptation: Its Mechanism , Science 157:585-584, 1967.Crossref 18. Nagata, M.: " Photopic Flicker ERG in Cases of Congenital Night Blindness and Total Color Blindness ," in Henkes, H.E., and van der Tweel, L.H. (eds.): Flicker, Proceedings of the Symposium on Physiology of Flicker and Flicker Electroretinography , The Hague: Dr. W. Junk, 1964, p 352-366. 19. Gunkel, R.D., and Gouras, P.: Changes in Scotopic Visibility Thresholds With Age , Arch Ophthal 69:4-9, 1963.Crossref 20. Elenius, V., and Heck, J.: Relation of Size of Electroretinogram to Rhodopsin Concentration in Normal Human Beings and One Totally Colour Blind , Nature 180:810, 1957.Crossref 21. Rushton, W.A.H.: Rhodopsin Measurement and Dark-Adaptation in a Subject Deficient in Cone Vision , J Physiol 156:193-205, 1961. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Ophthalmology American Medical Association

Progressive Cone Degeneration, Dominantly Inherited

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Publisher
American Medical Association
Copyright
Copyright © 1968 American Medical Association. All Rights Reserved.
ISSN
0003-9950
eISSN
1538-3687
DOI
10.1001/archopht.1968.00980050079011
Publisher site
See Article on Publisher Site

Abstract

Abstract Psychophysical and electrophysiological techniques are used to evaluate a family with progressive cone degeneration. Affected patients have monophasic dark-adaptation curves with normal rod thresholds, absent color vision, and reduction or absence of the cone components with normal rod components in the electroretinogram (ERG). Scotopic luminosity curves and ERGs with scotopically balanced lights suggest that their rhodopsin has a normal absorption spectrum. The defect in the cone system does not appear to influence dark adaptation of the rod system. This report confirms the dominant genetic pattern of this disease. References 1. François, J., et al: Dégénérescense maculaire juvénile avec atteinte prédominante de la vision photopique , Ophthalmologica 131:393-402, 1956.Crossref 2. Steinmetz, R.D.; Ogle, K.N.; and Rucker, C.W.: Some Physiologic Considerations of Hereditary Macular Degeneration , Amer J Ophthal 42:304-317, 1956. 3. Sloan, L.L., and Brown, D.J.: Progressive Retinal Degeneration With Selective Involvement of the Cone Mechanism , Amer J Ophthal 54:629-641, 1962. 4. Goodman, G.; Ripps, H.; and Siegel, I.M.: Cone Dysfunction Syndromes , Arch Ophthal 70:214-231, 1963.Crossref 5. Carr, R.E., and Siegel, I.M.: Electrophysiological Aspects of Several Retinal Diseases , Amer J Ophthal 58:95-107, 1964. 6. Goodman, G., et al: " Progressive Cone Degeneration ," in Burian, H.M., and Jacobson, J.H. (ed.): Clinical Electroretinography, Proceedings of the Third International Symposium 1964 , Oxford, England: Pergamon Press Symposium Publication Division, 1966, pp 363-372. 7. Berson, E.L.; Gouras, P.; and Gunkel, R.D.: Rod Responses in Retinitis Pigmentosa, Dominantly Inherited , Arch Ophthal 80:58-67 ( (July) ) 1968.Crossref 8. Berson, E.L.; Gouras, P.; and Gunkel, R.D.: Progressive Cone-Rod Degeneration , Arch Ophthal 80:68-76 ( (July) ) 1968.Crossref 9. Hecht, S.: Rods, Cones and the Chemical Basis of Vision , Physiol Rev 17:239-290, 1937. 10. Dodt, E.: Cone Electroretinography by Flicker , Nature 168:738-739, 1951.Crossref 11. Dodt, E., and Wadensten, L.: The Use of Flicker Electroretinography in the Human Eye , Acta Ophthal 32:165-180, 1954.Crossref 12. Johnson, E.P., and Cornsweet, T.N.: Electroretinal Photopic Sensitivity Curves , Nature 174:614-616, 1954.Crossref 13. Adrian, E.D.: The Electric Response of the Human Eye , J Physiol 104:84-104, 1945. 14. Armington, J.C.; Johnson, E.P.; and Riggs, L.A.: The Scotopic A-Wave in the Electrical Responses of the Human Retina , J Physiol 118:289-298, 1952. 15. Riggs, L.A.; Johnson, E.P.; and Schick, A.M.L.: Electrical Responses of the Human Eye to Moving Stimulus Patterns , Science 144:567, 1964.Crossref 16. Johnson, E.P., et al: " Photopic Retinal Potentials Evoked by Phase Alternation of a Barred Pattern ," in Burian, H.M., and Jacobson, J.H. (eds.): Clinical Electroretinography, Proceedings of the Third International Symposium 1964 , Oxford, England: Pergamon Press Symposium Publication Division, 1966, pp 75-91. 17. Gouras, P.: Visual Adaptation: Its Mechanism , Science 157:585-584, 1967.Crossref 18. Nagata, M.: " Photopic Flicker ERG in Cases of Congenital Night Blindness and Total Color Blindness ," in Henkes, H.E., and van der Tweel, L.H. (eds.): Flicker, Proceedings of the Symposium on Physiology of Flicker and Flicker Electroretinography , The Hague: Dr. W. Junk, 1964, p 352-366. 19. Gunkel, R.D., and Gouras, P.: Changes in Scotopic Visibility Thresholds With Age , Arch Ophthal 69:4-9, 1963.Crossref 20. Elenius, V., and Heck, J.: Relation of Size of Electroretinogram to Rhodopsin Concentration in Normal Human Beings and One Totally Colour Blind , Nature 180:810, 1957.Crossref 21. Rushton, W.A.H.: Rhodopsin Measurement and Dark-Adaptation in a Subject Deficient in Cone Vision , J Physiol 156:193-205, 1961.

Journal

Archives of OphthalmologyAmerican Medical Association

Published: Jul 1, 1968

References