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Hereditary Choroidoretinal Degeneration: Study of a Family Including Electroretinography and Adaptometry

Hereditary Choroidoretinal Degeneration: Study of a Family Including Electroretinography and... Abstract Introduction Cases which seem to be similar to those described by Falls and Cotterman31 as choroidoretinal degeneration have been described by a number of authors,1-29 and there have been a few reports of patients in whom intermediate sex-linked inheritance of the disease was demonstrable.23,30-35The fundi of these patients exhibit changes in both the retina and the choroid. The choroidal changes range from increased visibility of the choroidal network, in mild cases, to choroidal sclerosis and atrophy in the far advanced instances. The retinal changes are manifested functionally by night blindness in many cases. Ophthalmoscopic retinal changes consist of atrophic changes of the pigment epithelium (which is responsible for the increased visibility of the choroidal circulation), pigmentary migration at the more advanced stages, and progress to marked vascular narrowing at the terminal stages.There is no universally accepted classification despite the efforts of Franceschetti,36 Sorsby, References 1. Nettleship, E.: Central Senile Areolar Choroidal Atrophy , Trans. Ophthal. Soc. U.K. 4:165, 1884. 2. Morton, A. S.: Atrophy of Choroid , Trans. Ophthal. Soc. U.K. 5:142, 1885, 3. 13:282, 1893. 4. von Jaeger, E.: Ophthalmoskopischer Hand-Atlas , Leipzig and Wien, F. Deuticke Plate XVII, p. 80 5. Plate XXXI, p. 136, 1890. 6. Frost, W. A.: The Fundus Oculi , Edinburgh, Y. J. Pentland, 1896, Plates XXVI, XXVII, XXVIII. 7. Levinsohn, G.: Über Sclerose der Aderhaut mit secundarer Netzhautdegeneration , Arch. Augheilk , 38:268, 1899. 8. Bednarski, A.: Über einen Fall von Atrophia gyrata Choroideg und Retinae mit Sclerose der Aderhaut , Arch. Augenheilk. 40:420, 1900. 9. Harman, N. B.: Choroidal Angiosclerosis with Pigmentary Degeneration , Trans. Ophthal. Soc. U.K. 22:156, 1902. 10. Cuperus, N. J.: Über primäre Atrophie der Aderhaut mit Sclerose der Gefässe: "Atrophia alba choroidea," Arch. Augenheilk. 48:235, 1903. 11. Thompson, H. A.: Central Senile Choroiditis , Trans. Ophthal. Soc. U.K. 25:118, 1905. 12. Knapp, P.: Ein seltener Augenspiegelbefund (Sclerosis choroidea circinata) , Klin. Mbl. Augenheilk. 45:171, 1907. 13. Pöllot, W.: Atypische Chorioretinitis pigmentosa hereditaria , Graefe Arch. Ophthal. 80: 379, 1911.Crossref 14. Weiss: Angeborener, einseitiger völliger Sclerose der Aderhautgefässe , Klin. Mbl. Augenheilk. 52:142, 1914. 15. Holloway, T. B.: Atrophy of the Choroid with Extensive Sclerosis of Choroidal Vessels , Trans. Coll. Physicians Phila. 36:316, 1914. 16. Pillat, A.: Tapetoretinal Degeneration of Central Fundus Region , Amer. J. Ophthal. 13: 1, 1930. 17. Wilmer, W. H.: Atlas Fundi Oculi , New York, The Macmillan Company, 1934, Plate 82, p. 39. 18. Kapuscinski, W.: Über familiäre Aderhautentartung mit ataktischen Störungen , Ber. Dtsch. Ophthal. Ges. 50:13, 1943. 19. Francois, J.: Dégénérescence maculaire par sclérose du réseau choroïdien , Bull. Soc. Belg. Ophtal. 72:74, 1936. 20. Marzio, Q.: Sclerosi congenita totale del vasi choroideali (coroideremia) , in Fundus Oculi Diagnostica Oftalmoscopica , Tourino, Rosenberg & Sellier, 1937, Plates 100, 194, 212. 21. Sorsby, A.: Choroidal Angio-Sclerosis with Special Reference to Its Hereditary Character , Brit. J. Ophthal. 23:433, 1939.Crossref 22. Sorsby, A., and Mason, M. E. J.: A Fundus Dystrophy with Unusual Features , Brit. J. Ophthal. 33:67, 1949.Crossref 23. Sorsby, A., and Crick, R. P.: Central Areolar Choroidal Sclerosis , Brit. J. Ophthal. 37: 129, 1953.Crossref 24. Sorsby, A., and Davey, J. B.: Generalized Choroidal Sclerosis , Brit. J. Ophthal. 39:257, 1955.Crossref 25. Sorsby, A., and Savory, M.: Choroidal Sclerosis: A Possible Intermediate Sex-Linked Form , Brit. J. Ophthal. 40:90, 1956.Crossref 26. Sorsby, A.: Abiotrophy , Bibl. Ophthal. 47: 530, 1957. 27. Francois, J.: Contribution à l'étude des héredo-dégénérescences tapéto-rétiniennes (dégénérescence choriorétinienne familiale à hérédité dominante): Coexistence familiale de la dégénérescence pigmentaire de la rétine et de la maladie de Stargardt , Ophthalmologica 118:1, 1949.Crossref 28. Guglianetti, L.: Sur la Sclerose generalisée des vaisseaux choroidiens d'origine familiale, International (16) Ophthalmological Congress, London, 1950, Acta London 29. Brit. Med. Assoc. 1:493, 1951. 30. Waardenburg, P.: Angiosclerose familiale de la choroid , J. Genet. Hum. 1:83, 1952. 31. Neubauer, H.: Progressive Aderhautatrophie , Graefe Arch. Ophthal. 156:577, 1955. 32. Sandvig, K.: Familial, Central, Areolar, Choroidal Atrophy of Autosomal Dominant Inheritance , Acta Ophthal. (Kbh.) 33:71, 1955.Crossref 33. Thompson, A. H.: Superficial Choroidal Atrophy Without Subjective Symptoms in a Member of a Family Subject to Night Blindness , Trans. Ophthal. Soc. U.K. 21:66, 1901. 34. Falls, H. F., and Cotterman, C. W.: Choroidoretinal Degeneration , Arch. Ophthal. 40:685, 1948.Crossref 35. Weiner, R. L., and Falls, H. F.: Intermediate Sex-Linked Retinitis Pigmentosa , Arch. Ophthal. 53:530, 1955.Crossref 36. Stankovic, I.: L'Angiosclérose choroïdienne familial liée au sexe , Bull. Mem. Soc. Ophtal. Franc. 411, 1958. 37. Franceschetti, A.: Discussion of the paper of Stankovic , Bull. Mem. Soc. Ophtal. Franc. 71: 417, 1958. 38. François, M. J.: Discussion of the paper of Stankovic , Bull. Mem. Soc. Ophtal. Franc. 71: 419, 1958. 39. Franceschetti, A., and Klein, D.: The Tapeto-Retinal Degenerations, International (16) Ophthalmological Congress, London, 1950, Acta London 40. Brit. Med. Assoc. 1:158, 1951.Crossref 41. François, J.: L'Heredite in ophtalmologie: Heredo-degenerescences tapeto-retininiennes peripheriques , Bull. Soc. Belg. Ophtal. 118:171, 1958. 42. Leber, T.: Über anomale Formen der Retinitis pigmentosa , Graefe Arch. Ophthal. 17: 314, 1871. 43. François, J.; Verriest, G., and DeRouck, A.: Les Fonctions visuelles dans les dégénérescences tapetoretiniennes , Bibl. Ophthal. 43:1, 1956. 44. Hess, C.: Beiträge zur Kenntnis der Nachtblindheit , Arch. Augenheilk. 69:205, 1911. 45. Vogelsang, K.: Der Einfluss der Dunkeladaptation auf den zeitlichen Verlauf der Gesichtsempfindung bei Verwendung farbiger Prüflichter , Pflueger. Arch. Ges. Physiol. 203:1, 1924.Crossref 46. Vogelsang, K.: Die Empfindungszeit und der zeitliche Verlauf der Empfindungen , Ergebn. Physiol. 26:122, 1928.Crossref 47. Mandelbaum, J.: Dark Adaptation: Some Physiologic and Clinical Considerations , Arch. Ophthal. 26:203, 1941.Crossref 48. Sloan, L. L.: Instruments and Techniques for the Clinical Testing of Light Sense , Arch. Ophthal. 21:913, 1939.Crossref 49. Zeavin, B., and Wald, G.: Rod and Cone Vision in Retinitis Pigmentosa , Amer. J. Ophthal. 42:253, 1956. 50. Goodman, G., and Gunkel, R.: Familial Electroretinographic and Adaptometric Studies in Retinitis Pigmentosa , Amer. J. Ophthal. 46:142, 1958. 51. Bornschein, H., and Vukovich, V.: Das Elektroretinogramm bei Mangelhemeralopie , Graefe Arch. Ophthal. 153:484, 1953. 52. Dhanda, R. P.: Electroretinography in Night Blindness and Other Vitamin A Deficiencies , A.M.A. Arch. Ophthal. 54:841, 1956.Crossref 53. François, J.; Verriest, G., and Derouck, A.: La Maladie d'Oguchi , Ophthalmologica 131:1, 1956.Crossref 54. Noell, W.: Differentiation, Metabolic Organization and Viability of the Visual Cell , A.M.A. Arch. Ophthal. 60:702, 1958.Crossref 55. Jacobson, J. H., and Gestring, G. F.: Spontaneous Retinal Electrical Potentials , A.M.A. Arch. Ophthal. 62:599, 1959.Crossref 56. Dieterle, P., and Gordon, E.: Standard Curve and Physiological Limits of Dark Adaptation by Means of the Goldmann-Weekers Adaptometer , Brit. J. Ophthal. 40:652, 1956.Crossref 57. Henkes, H. E.: Electroretinography: An Evaluation of the Influence of the Retinal and General Metabolic Condition on the Electrical Response of the Retina , Amer. J. Ophthal. 43:67, 1957. 58. Motokawa, K., and Mita, T.: Über eine einfachere Untersuchungsmethode und Eigenschaften der Aktionsströme der Netzhaut des Menschen , Tohoku J. Exp. Med. 42:114, 1942.Crossref 59. Adrian, E. D.: The Electric Response of the Human Eye , J. Physiol. (Lond.) 104:84, 1945. 60. Riggs, L. A., and Johnson, E. P.: Electrical Responses of the Human Retina , J. Exp. Psychol. 39:415, 1949.Crossref 61. Armington, J. C.: A Component of the Human Electroretinogram Associated with Red Color Vision , J. Optic. Soc. Amer. 42:393, 1952.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Ophthalmology American Medical Association

Hereditary Choroidoretinal Degeneration: Study of a Family Including Electroretinography and Adaptometry

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American Medical Association
Copyright
Copyright © 1962 American Medical Association. All Rights Reserved.
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0003-9950
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1538-3687
DOI
10.1001/archopht.1962.00960020323009
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Abstract

Abstract Introduction Cases which seem to be similar to those described by Falls and Cotterman31 as choroidoretinal degeneration have been described by a number of authors,1-29 and there have been a few reports of patients in whom intermediate sex-linked inheritance of the disease was demonstrable.23,30-35The fundi of these patients exhibit changes in both the retina and the choroid. The choroidal changes range from increased visibility of the choroidal network, in mild cases, to choroidal sclerosis and atrophy in the far advanced instances. The retinal changes are manifested functionally by night blindness in many cases. Ophthalmoscopic retinal changes consist of atrophic changes of the pigment epithelium (which is responsible for the increased visibility of the choroidal circulation), pigmentary migration at the more advanced stages, and progress to marked vascular narrowing at the terminal stages.There is no universally accepted classification despite the efforts of Franceschetti,36 Sorsby, References 1. Nettleship, E.: Central Senile Areolar Choroidal Atrophy , Trans. Ophthal. Soc. U.K. 4:165, 1884. 2. Morton, A. S.: Atrophy of Choroid , Trans. Ophthal. Soc. U.K. 5:142, 1885, 3. 13:282, 1893. 4. von Jaeger, E.: Ophthalmoskopischer Hand-Atlas , Leipzig and Wien, F. Deuticke Plate XVII, p. 80 5. Plate XXXI, p. 136, 1890. 6. Frost, W. A.: The Fundus Oculi , Edinburgh, Y. J. Pentland, 1896, Plates XXVI, XXVII, XXVIII. 7. Levinsohn, G.: Über Sclerose der Aderhaut mit secundarer Netzhautdegeneration , Arch. Augheilk , 38:268, 1899. 8. Bednarski, A.: Über einen Fall von Atrophia gyrata Choroideg und Retinae mit Sclerose der Aderhaut , Arch. Augenheilk. 40:420, 1900. 9. Harman, N. B.: Choroidal Angiosclerosis with Pigmentary Degeneration , Trans. Ophthal. Soc. U.K. 22:156, 1902. 10. Cuperus, N. J.: Über primäre Atrophie der Aderhaut mit Sclerose der Gefässe: "Atrophia alba choroidea," Arch. Augenheilk. 48:235, 1903. 11. Thompson, H. A.: Central Senile Choroiditis , Trans. Ophthal. Soc. U.K. 25:118, 1905. 12. Knapp, P.: Ein seltener Augenspiegelbefund (Sclerosis choroidea circinata) , Klin. Mbl. Augenheilk. 45:171, 1907. 13. Pöllot, W.: Atypische Chorioretinitis pigmentosa hereditaria , Graefe Arch. Ophthal. 80: 379, 1911.Crossref 14. Weiss: Angeborener, einseitiger völliger Sclerose der Aderhautgefässe , Klin. Mbl. Augenheilk. 52:142, 1914. 15. Holloway, T. B.: Atrophy of the Choroid with Extensive Sclerosis of Choroidal Vessels , Trans. Coll. Physicians Phila. 36:316, 1914. 16. Pillat, A.: Tapetoretinal Degeneration of Central Fundus Region , Amer. J. Ophthal. 13: 1, 1930. 17. Wilmer, W. H.: Atlas Fundi Oculi , New York, The Macmillan Company, 1934, Plate 82, p. 39. 18. Kapuscinski, W.: Über familiäre Aderhautentartung mit ataktischen Störungen , Ber. Dtsch. Ophthal. Ges. 50:13, 1943. 19. Francois, J.: Dégénérescence maculaire par sclérose du réseau choroïdien , Bull. Soc. Belg. Ophtal. 72:74, 1936. 20. Marzio, Q.: Sclerosi congenita totale del vasi choroideali (coroideremia) , in Fundus Oculi Diagnostica Oftalmoscopica , Tourino, Rosenberg & Sellier, 1937, Plates 100, 194, 212. 21. Sorsby, A.: Choroidal Angio-Sclerosis with Special Reference to Its Hereditary Character , Brit. J. Ophthal. 23:433, 1939.Crossref 22. Sorsby, A., and Mason, M. E. J.: A Fundus Dystrophy with Unusual Features , Brit. J. Ophthal. 33:67, 1949.Crossref 23. Sorsby, A., and Crick, R. P.: Central Areolar Choroidal Sclerosis , Brit. J. Ophthal. 37: 129, 1953.Crossref 24. Sorsby, A., and Davey, J. B.: Generalized Choroidal Sclerosis , Brit. J. Ophthal. 39:257, 1955.Crossref 25. Sorsby, A., and Savory, M.: Choroidal Sclerosis: A Possible Intermediate Sex-Linked Form , Brit. J. Ophthal. 40:90, 1956.Crossref 26. Sorsby, A.: Abiotrophy , Bibl. Ophthal. 47: 530, 1957. 27. Francois, J.: Contribution à l'étude des héredo-dégénérescences tapéto-rétiniennes (dégénérescence choriorétinienne familiale à hérédité dominante): Coexistence familiale de la dégénérescence pigmentaire de la rétine et de la maladie de Stargardt , Ophthalmologica 118:1, 1949.Crossref 28. Guglianetti, L.: Sur la Sclerose generalisée des vaisseaux choroidiens d'origine familiale, International (16) Ophthalmological Congress, London, 1950, Acta London 29. Brit. Med. Assoc. 1:493, 1951. 30. Waardenburg, P.: Angiosclerose familiale de la choroid , J. Genet. Hum. 1:83, 1952. 31. Neubauer, H.: Progressive Aderhautatrophie , Graefe Arch. Ophthal. 156:577, 1955. 32. Sandvig, K.: Familial, Central, Areolar, Choroidal Atrophy of Autosomal Dominant Inheritance , Acta Ophthal. (Kbh.) 33:71, 1955.Crossref 33. Thompson, A. H.: Superficial Choroidal Atrophy Without Subjective Symptoms in a Member of a Family Subject to Night Blindness , Trans. Ophthal. Soc. U.K. 21:66, 1901. 34. Falls, H. F., and Cotterman, C. W.: Choroidoretinal Degeneration , Arch. Ophthal. 40:685, 1948.Crossref 35. Weiner, R. L., and Falls, H. F.: Intermediate Sex-Linked Retinitis Pigmentosa , Arch. Ophthal. 53:530, 1955.Crossref 36. Stankovic, I.: L'Angiosclérose choroïdienne familial liée au sexe , Bull. Mem. Soc. Ophtal. Franc. 411, 1958. 37. Franceschetti, A.: Discussion of the paper of Stankovic , Bull. Mem. Soc. Ophtal. Franc. 71: 417, 1958. 38. François, M. J.: Discussion of the paper of Stankovic , Bull. Mem. Soc. Ophtal. Franc. 71: 419, 1958. 39. Franceschetti, A., and Klein, D.: The Tapeto-Retinal Degenerations, International (16) Ophthalmological Congress, London, 1950, Acta London 40. Brit. Med. Assoc. 1:158, 1951.Crossref 41. François, J.: L'Heredite in ophtalmologie: Heredo-degenerescences tapeto-retininiennes peripheriques , Bull. Soc. Belg. Ophtal. 118:171, 1958. 42. Leber, T.: Über anomale Formen der Retinitis pigmentosa , Graefe Arch. Ophthal. 17: 314, 1871. 43. François, J.; Verriest, G., and DeRouck, A.: Les Fonctions visuelles dans les dégénérescences tapetoretiniennes , Bibl. Ophthal. 43:1, 1956. 44. Hess, C.: Beiträge zur Kenntnis der Nachtblindheit , Arch. Augenheilk. 69:205, 1911. 45. Vogelsang, K.: Der Einfluss der Dunkeladaptation auf den zeitlichen Verlauf der Gesichtsempfindung bei Verwendung farbiger Prüflichter , Pflueger. Arch. Ges. Physiol. 203:1, 1924.Crossref 46. Vogelsang, K.: Die Empfindungszeit und der zeitliche Verlauf der Empfindungen , Ergebn. Physiol. 26:122, 1928.Crossref 47. Mandelbaum, J.: Dark Adaptation: Some Physiologic and Clinical Considerations , Arch. Ophthal. 26:203, 1941.Crossref 48. Sloan, L. L.: Instruments and Techniques for the Clinical Testing of Light Sense , Arch. Ophthal. 21:913, 1939.Crossref 49. Zeavin, B., and Wald, G.: Rod and Cone Vision in Retinitis Pigmentosa , Amer. J. Ophthal. 42:253, 1956. 50. Goodman, G., and Gunkel, R.: Familial Electroretinographic and Adaptometric Studies in Retinitis Pigmentosa , Amer. J. Ophthal. 46:142, 1958. 51. Bornschein, H., and Vukovich, V.: Das Elektroretinogramm bei Mangelhemeralopie , Graefe Arch. Ophthal. 153:484, 1953. 52. Dhanda, R. P.: Electroretinography in Night Blindness and Other Vitamin A Deficiencies , A.M.A. Arch. Ophthal. 54:841, 1956.Crossref 53. François, J.; Verriest, G., and Derouck, A.: La Maladie d'Oguchi , Ophthalmologica 131:1, 1956.Crossref 54. Noell, W.: Differentiation, Metabolic Organization and Viability of the Visual Cell , A.M.A. Arch. Ophthal. 60:702, 1958.Crossref 55. Jacobson, J. H., and Gestring, G. F.: Spontaneous Retinal Electrical Potentials , A.M.A. Arch. Ophthal. 62:599, 1959.Crossref 56. Dieterle, P., and Gordon, E.: Standard Curve and Physiological Limits of Dark Adaptation by Means of the Goldmann-Weekers Adaptometer , Brit. J. Ophthal. 40:652, 1956.Crossref 57. Henkes, H. E.: Electroretinography: An Evaluation of the Influence of the Retinal and General Metabolic Condition on the Electrical Response of the Retina , Amer. J. Ophthal. 43:67, 1957. 58. Motokawa, K., and Mita, T.: Über eine einfachere Untersuchungsmethode und Eigenschaften der Aktionsströme der Netzhaut des Menschen , Tohoku J. Exp. Med. 42:114, 1942.Crossref 59. Adrian, E. D.: The Electric Response of the Human Eye , J. Physiol. (Lond.) 104:84, 1945. 60. Riggs, L. A., and Johnson, E. P.: Electrical Responses of the Human Retina , J. Exp. Psychol. 39:415, 1949.Crossref 61. Armington, J. C.: A Component of the Human Electroretinogram Associated with Red Color Vision , J. Optic. Soc. Amer. 42:393, 1952.Crossref

Journal

Archives of OphthalmologyAmerican Medical Association

Published: Mar 1, 1962

References