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Hereditary Vitelline Macular Degeneration: A Clinical and Functional Evaluation of a New Pedigree With Variable Expressivity and Dominant Inheritance

Hereditary Vitelline Macular Degeneration: A Clinical and Functional Evaluation of a New Pedigree... Abstract Hereditary vitelline macular degeneration presents a widely varied ophthalmoscopic picture. The visual loss and age of onset differ within and between pedigrees. Typically it consists of a macular degeneration with early onset in which the central retinal changes are evident with the ophthalmoscope long before the symptoms appear. There is a loss of central vision, with the onset from long before puberty to the early 30's and slight if any progression, so that most of the affected individuals are still able to read large print in their 50's and 60's. Inheritance is usually autosomal dominant. Visual loss is relatively mild, and the ophthalmoscopic findings run a gamut from mild pigmentary degeneration to dense scarring with pigmentary hyperplasia. The affliction is bilateral, but the onset, visual loss, and appearance often vary between the two eyes. Since Best,1 in 1905, described the initial pedigree of this condition, many other pedigrees have References 1. Best, F.: Über eine hereditäre Maculaaffection , Z Augenheilk 13:199-212, 1905. 2. Huysmans, J.: Exudative Central Detachment of Retina in a Family (Macular Pseudocysts) , Ophthalmologica 99:449-455, 1940.Crossref 3. Falls, H. F.: Hereditary Congenital Macular Degeneration , Amer J Hum Genet 1:96-104, 1949. 4. Falls, H. F.: Role of Sex Chromosome in Hereditary Ocular Pathology , Trans Amer Ophthal Soc 50:421-467, 1952. 5. Berkley, W. L., and Bussey, F. R.: Heredodegeneration of Macula , Amer J Ophthal 32:361-365, 1949. 6. Bruna, F.: Su di una rara forma di degenerazione tapeto-retinica della regione maculare , Boll Oculist 30:596-610, 1951. 7. Davis, G. T., and Hollenhurst, R. W.: Hereditary Degeneration of Macula , Amer J Ophthal 39: 637-643, 1955. 8. McFarland, C. B.: Heredodegeneration of Macula Lutea , AMA Arch Ophthal 53:224-228, 1955.Crossref 9. Sorsby, A., et al: Macular Cysts: Dominantly Inherited Affection With Progressive Course , Brit J Ophthal 40:144-158, 1956.Crossref 10. Barkman, Y.: Clinical Study of Central Tapetoretinal Degeneration , Acta Ophthal 39:663-671, 1961.Crossref 11. Grimm, R. J., and Tedford, J.: Hereditary Macular Degeneration , Amer J Ophthal 55:457-463, 1963. 12. Zanen, J., and Rausin, G.: Kyste vitelliforme congenital de la macula , Bull Soc Belg Ophtal 96: 544-548, 1950. 13. McKay, R. A., and Spivey, B. E.: Generalized Choroidal Angiosclerosis , Arch Ophthal 67: 727-735, 1962.Crossref 14. Jaeger, G. M.: A Hereditary Retinal Disease , Trans Ophthal Soc UK 73:617-619, 1953. 15. Capalbi, S.: Cisti vitelliforme congenita della macula , G Ital Oftal 7:350-359, 1954. 16. Ruedemann, A. D., Jr., and Noell, W. K.: Electroretinogram in Central Retinal Degeneration , Trans Amer Acad Ophthal Otolaryng 65:576-594, 1961. 17. Verriest, G.: Further Studies on Acquired Deficiency of Color Discrimination , J Opt Soc Amer 53:185-195, 1963.Crossref 18. Renard, G.; Dhermy, P.; and Amar, L.: Consideration sur les degenerescences de la macula , Arch Ophtal (Paris) 20:797-803, 1960. 19. Zanen, J., and Hermans, R.: Le disque vitelliforme de la macula: Nouvelle observation , Bull Soc Belg Ophtal 129:462-482, 1961. 20. Klien, B. A.: Heredodegeneration of Macula Lutea , Amer J Ophthal 33:371-379, 1950. 21. Klien, B. A.: Diseases of Macula , AMA Arch Ophthal 60:175-186, 1958.Crossref 22. Friedenwald, J. S., and Maumenee, A. E.: Peculiar Macular Lesion With Unaccountably Good Vision , AMA Arch Ophthal 45:567-569, 1951.Crossref 23. Meyer: Cistos da retina: Esferula macular; Cisto viteliforme , Arq Clin Oftal Otol 7:9-33, 1953. 24. François, J.: Heredity in Ophthalmology , St. Louis: The C. V. Mosby Company, 1961. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Ophthalmology American Medical Association

Hereditary Vitelline Macular Degeneration: A Clinical and Functional Evaluation of a New Pedigree With Variable Expressivity and Dominant Inheritance

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Publisher
American Medical Association
Copyright
Copyright © 1964 American Medical Association. All Rights Reserved.
ISSN
0003-9950
eISSN
1538-3687
DOI
10.1001/archopht.1964.00970020743003
Publisher site
See Article on Publisher Site

Abstract

Abstract Hereditary vitelline macular degeneration presents a widely varied ophthalmoscopic picture. The visual loss and age of onset differ within and between pedigrees. Typically it consists of a macular degeneration with early onset in which the central retinal changes are evident with the ophthalmoscope long before the symptoms appear. There is a loss of central vision, with the onset from long before puberty to the early 30's and slight if any progression, so that most of the affected individuals are still able to read large print in their 50's and 60's. Inheritance is usually autosomal dominant. Visual loss is relatively mild, and the ophthalmoscopic findings run a gamut from mild pigmentary degeneration to dense scarring with pigmentary hyperplasia. The affliction is bilateral, but the onset, visual loss, and appearance often vary between the two eyes. Since Best,1 in 1905, described the initial pedigree of this condition, many other pedigrees have References 1. Best, F.: Über eine hereditäre Maculaaffection , Z Augenheilk 13:199-212, 1905. 2. Huysmans, J.: Exudative Central Detachment of Retina in a Family (Macular Pseudocysts) , Ophthalmologica 99:449-455, 1940.Crossref 3. Falls, H. F.: Hereditary Congenital Macular Degeneration , Amer J Hum Genet 1:96-104, 1949. 4. Falls, H. F.: Role of Sex Chromosome in Hereditary Ocular Pathology , Trans Amer Ophthal Soc 50:421-467, 1952. 5. Berkley, W. L., and Bussey, F. R.: Heredodegeneration of Macula , Amer J Ophthal 32:361-365, 1949. 6. Bruna, F.: Su di una rara forma di degenerazione tapeto-retinica della regione maculare , Boll Oculist 30:596-610, 1951. 7. Davis, G. T., and Hollenhurst, R. W.: Hereditary Degeneration of Macula , Amer J Ophthal 39: 637-643, 1955. 8. McFarland, C. B.: Heredodegeneration of Macula Lutea , AMA Arch Ophthal 53:224-228, 1955.Crossref 9. Sorsby, A., et al: Macular Cysts: Dominantly Inherited Affection With Progressive Course , Brit J Ophthal 40:144-158, 1956.Crossref 10. Barkman, Y.: Clinical Study of Central Tapetoretinal Degeneration , Acta Ophthal 39:663-671, 1961.Crossref 11. Grimm, R. J., and Tedford, J.: Hereditary Macular Degeneration , Amer J Ophthal 55:457-463, 1963. 12. Zanen, J., and Rausin, G.: Kyste vitelliforme congenital de la macula , Bull Soc Belg Ophtal 96: 544-548, 1950. 13. McKay, R. A., and Spivey, B. E.: Generalized Choroidal Angiosclerosis , Arch Ophthal 67: 727-735, 1962.Crossref 14. Jaeger, G. M.: A Hereditary Retinal Disease , Trans Ophthal Soc UK 73:617-619, 1953. 15. Capalbi, S.: Cisti vitelliforme congenita della macula , G Ital Oftal 7:350-359, 1954. 16. Ruedemann, A. D., Jr., and Noell, W. K.: Electroretinogram in Central Retinal Degeneration , Trans Amer Acad Ophthal Otolaryng 65:576-594, 1961. 17. Verriest, G.: Further Studies on Acquired Deficiency of Color Discrimination , J Opt Soc Amer 53:185-195, 1963.Crossref 18. Renard, G.; Dhermy, P.; and Amar, L.: Consideration sur les degenerescences de la macula , Arch Ophtal (Paris) 20:797-803, 1960. 19. Zanen, J., and Hermans, R.: Le disque vitelliforme de la macula: Nouvelle observation , Bull Soc Belg Ophtal 129:462-482, 1961. 20. Klien, B. A.: Heredodegeneration of Macula Lutea , Amer J Ophthal 33:371-379, 1950. 21. Klien, B. A.: Diseases of Macula , AMA Arch Ophthal 60:175-186, 1958.Crossref 22. Friedenwald, J. S., and Maumenee, A. E.: Peculiar Macular Lesion With Unaccountably Good Vision , AMA Arch Ophthal 45:567-569, 1951.Crossref 23. Meyer: Cistos da retina: Esferula macular; Cisto viteliforme , Arq Clin Oftal Otol 7:9-33, 1953. 24. François, J.: Heredity in Ophthalmology , St. Louis: The C. V. Mosby Company, 1961.

Journal

Archives of OphthalmologyAmerican Medical Association

Published: Dec 1, 1964

References

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