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TWINNING AND OCULAR PATHOLOGY: WITH A REPORT OF BILATERAL MACULAR COLOBOMA IN MONOZYGOTIC TWINS

TWINNING AND OCULAR PATHOLOGY: WITH A REPORT OF BILATERAL MACULAR COLOBOMA IN MONOZYGOTIC TWINS Abstract Bilateral macular coloboma is a rare congenital anomaly, only a small number of cases having been reported. This makes the occurrence of four remarkably similar colobomas in the four eyes of a pair of twins especially noteworthy. Apart from their significance for ocular pathology, the cases reported herewith furnish a remarkable instance of exquisitely detailed concordance in monozygotic twins. We first present the results of comparative observations of twins A and B and then discuss the physiology of twinning in the genesis of coloboma. The literature is surveyed, and the reports of various ophthalmologic correspondences in twins are summarized to indicate the developmental factors at the basis of pathologic conditions of the eyes. REPORT OF CASE The subjects were a pair of otherwise relatively normal twin girls. In spite of their eagerness and vivacity they had been handicapped in their school progress and were referred to the Yale References 1. Schweiz. med. Wchnschr. 65:576, 1935 2. Beckerhaus, Gesell (1931) 3. Adelmann, H. B.: The Embryological Basis of Cyclopia , Am. J. Ophth. 17:890, 1934. 4. Beckershaus, F.: Ueber eineiige Zwillinge , Ztschr. f. Augenh. 59:264, 1926. 5. Benedict, W. L.: Retinoblastoma in Homologous Eyes of Identical Twins , Arch. Ophth. 2:545 ( (Nov.) ) 1929.Crossref 6. Black, M.: Twins with High Hyperopia , Am. J. Ophth. 7:375, 1924. 7. Brav, A.: Bilateral Macular Coloboma , Am. J. Ophth. 17:1151, 1934. 8. Bunce, A. H., and Dougherty, M. S.: Diabetes Mellitus in Twins , J. A. M. A. 92:52 ( (Jan. 5) ) 1929.Crossref 9. Danforth, C. H.: Resemblances and Differences in Twins , J. Hered. 10:399, 1919. 10. Dickinson, H.: Am. J. Ophth. 17:748, 1934. 11. Emerson, L.: Equal Ametropia in Twins , Am. J. Ophth. 7:966, 1924. 12. Folk, M. L.: Histopathology of Coloboma of the Choroid and Optic-Nerve Entrance , Am. J. Ophth. 17:1126, 1934. 13. Friedenwald, J. S.: The Pathology of the Eye , New York, The Macmillan Company, 1929. 14. Gesell, A.: Hemihypertrophy and Mental Defect , Arch. Neurol. & Psychiat. 6:400 ( (Oct.) ) 1921. 15. Mental and Physical Correspondence in Twins , Scient. Monthly 14:304, 1922. 16. Hemihypertrophy and Twinning: A Further Study of the Nature of Hemihypertrophy with Report of a New Case , Am. J. M. Sc. 173:542, 1927. 17. Behavior Resemblance in Identical Infant Twins , Eugenical News 14:72, 1929. 18. The Developmental Psychology of Twins , in Murchison, Carl: A Handbook of Child Psychology , Worcester, Mass., Clark University Press, 1931, p. 158. 19. Murchison and Thompson, H.: Learning and Growth in Identical Infant Twins: An Experimental Study by the Method of Co-Twin Control , Genetic Psychol. Monogr. 6:1, 1929. 20. Glover, L. P.: Amblyopia in Identical Twins , Am. J. Ophth. 15:140, 1932. 21. Halbertsma, K. T. A.: Observations on the Corneal Curvature, Astigmatism and Refraction in Several Pairs of Twins Belonging to the Same Family , Arch. f. Ophth. 123:632, 1930. 22. Heinonen, O.: Ueber die Refraktion bei eineiigen Zwillingen, speziell in Hinsicht der asymmetrischen Fälle , Acta ophth. 2:35, 1924. 23. Hessin: Family Coloboma in Iris and Choroid , abstr., Klin. Monatsbl. f. Augenh. 52:329, 1914. 24. Huber, A.: Ophthalmologische Untersuchungen an eineiigen und zweieiigen Zwillingen , Arch. d. Julius Klaus Stiftg. f. Vererbsforsch. 6:41, 1931. 25. Huxley, J. S.: Problems of Relative Growth , New York, Lincoln MacVeagh, The Dial Press, 1932. 26. Jablonski, W.: Ein Beitrag zur Vererbung der Refraktion menschlicher Augen , Arch. f. Augenh. 91:309, 1922. 27. Jackson, E.: Coloboma in the Eye , Am. J. Ophth. 17:540, 1934. 28. Kiehle, F. A., and Pugmire, C.: Buphthalmos in Identical Twins , Arch. Ophth. 12:751 ( (May) ) 1934.Crossref 29. Landolt, M.: Equal Ametropia in Twins , Am. J. Ophth. 7:723, 1924. 30. Libby, G. F.: Heredity in Relation to the Eye , Ophthalmology 9:165, 1913. 31. Loeb, C.: A Case of Hereditary Bilateral Upward Coloboma of the Iris, with Remarks on Hereditary Blindness , Ann. Ophth. 26:573, 1917. 32. McFarland, J., and Meade, T. S.: Genetic Origin of Tumors Supported by Their Simultaneous and Symmetrical Occurrence in Homologous Twins , Am. J. M. Sc. 184:66, 1932.Crossref 33. Mann, I. C.: The Development of the Human Eye , London, Cambridge University Press, 1928. 34. May, C. H.: Manual of the Diseases of the Eye , ed. 8, New York, William Wood & Company, 1914. 35. Müller-Kannberg: Zur Casuistic der Opticus-Colobome , Klin. Monatsbl. f. Augenh. 32:173, 1894. 36. Neff, F. C.: Exophthalmic Goiter in Identical Twin Girls , J. Pediat. 1:239, 1932.Crossref 37. Nettleship, E.: Some Unusual Degrees of Colour-Blindness , Tr. Ophth. Soc. U. Kingdom 32:309, 1912. 38. Pillat, A.: Zur "Aehnlichkeitsdiagnose" der Augenmerkmale bei eineiigen Zwillingen und über "Spiegelbildsymmetrie" gewisser Merkmale , Ztschr. f. Augenh. 71:35, 1930. 39. Rife, D. C.: Genetic Studies of Monozygotic Twins: Finger-Patterns and Eye-Color as Criteria of Monozygosity , J. Hered. 24:406, 1933. 40. Ring, G. O.: Concerning Coloboma of the Iris in Association with Congenital Cataract , Ophth. Rec. 26:113, 1917. 41. Risley, S. D.: Aniridia with Interesting Family History , Tr. Coll. Physicians Philadelphia 37:397, 1915. 42. Rones, B.: The Genesis of Atypical Ocular Coloboma , Am. J. Ophth. 17:883, 1934. 43. Rychener, R. O.: Identical Twins with Hyperopia, Amblyopia ex Anopsia, and Colloid Deposits in Optic Disks , Am. J. Ophth. 14:685, 1931. 44. Schmidt: Klin. Monatsbl. f. Augenh. 80:553, 1928. 45. Shannon, C. E. G.: Two Cases of Congenital Iris Coloboma , Ophth. Rec. 26:398, 1917. 46. Siemens, H. W.: Die Zwillingspathologie , Berlin, Julius Springer, 1924. 47. Silcock, A. Q.: Hereditary Sarcoma of the Eyeball in Three Generations , Brit. M. J. 1:1079, 1892. 48. Sivelli, P.: Nistagmo orizzontale congenito in una coppia di gemelli , Riv. di clin. pediat. 29:648, 1931. 49. Snell, S.: Coloboma of the Iris in Each Eye, Occurring in Five Generations , Tr. Ophth. Soc. U. Kingdom 28:148, 1908. 50. Sorsby, A.: Three Groups of Unusual Fundus Disturbances , Proc. Roy. Soc. Med. 27:694, 1934. 51. Speman, H.: Ueber experimentell erzeugte Doppelbildungen mit cyclopischem Defekt , Zool. Jahresb. (supp.) 7:429, 1904. 52. Stern, H. J.: A Comparative Investigation of the Ocular Fundi of Twins , Klin. Monatsbl. f. Augenh. 90:215, 1933. 53. Stockard, C. R.: An Experimental Study of the Position of the Optic Anlage in Amblystoma Punctatum , Am. J. Anat. 15:253, 1913.Crossref 54. Tobias, G.: Ein Beitrag zur Vererbungsmöglichkeit erworbener Augendefekte , Klin. Monatsbl. f. Augenh. 49:212, 1911. 55. Velhagen: Atypisches Coloboma Iridis congenitum beim Vater; Aniridia congenita bei den Kindern , München. med. Wchnschr. 70:469, 1923. 56. Waardenburg, P. J.: Refraktion und Zwillingsforschung , Klin. Monatsbl. f. Augenh. 84:593, 1930. 57. Weitz, W.: Studien an eineiigen Zwillingen , Ztschr. f. klin. Med. 101:115, 1924. 58. Weninger, J.: Ueber die Weichteile der Augengegend bei erbgleichen Zwillingen , Anthrop. Anz. 9:57, 1932. 59. Wilson, J. A.: Twins with Eye Defects: Ametropia and Strabismus , Brit. J. Ophth. 16:421, 1932.Crossref 60. Wilson, S. A. K., and Wolfsohn, J. M.: Organic Nervous Disease in Identical Twins , Arch. Neurol. & Psychiat. 21:477 ( (March) ) 1929. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Ophthalmology American Medical Association

TWINNING AND OCULAR PATHOLOGY: WITH A REPORT OF BILATERAL MACULAR COLOBOMA IN MONOZYGOTIC TWINS

Archives of Ophthalmology , Volume 15 (6) – Jun 1, 1936

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Publisher
American Medical Association
Copyright
Copyright © 1936 American Medical Association. All Rights Reserved.
ISSN
0003-9950
eISSN
1538-3687
DOI
10.1001/archopht.1936.00840180094009
Publisher site
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Abstract

Abstract Bilateral macular coloboma is a rare congenital anomaly, only a small number of cases having been reported. This makes the occurrence of four remarkably similar colobomas in the four eyes of a pair of twins especially noteworthy. Apart from their significance for ocular pathology, the cases reported herewith furnish a remarkable instance of exquisitely detailed concordance in monozygotic twins. We first present the results of comparative observations of twins A and B and then discuss the physiology of twinning in the genesis of coloboma. The literature is surveyed, and the reports of various ophthalmologic correspondences in twins are summarized to indicate the developmental factors at the basis of pathologic conditions of the eyes. REPORT OF CASE The subjects were a pair of otherwise relatively normal twin girls. In spite of their eagerness and vivacity they had been handicapped in their school progress and were referred to the Yale References 1. Schweiz. med. Wchnschr. 65:576, 1935 2. Beckerhaus, Gesell (1931) 3. Adelmann, H. B.: The Embryological Basis of Cyclopia , Am. J. Ophth. 17:890, 1934. 4. Beckershaus, F.: Ueber eineiige Zwillinge , Ztschr. f. Augenh. 59:264, 1926. 5. Benedict, W. L.: Retinoblastoma in Homologous Eyes of Identical Twins , Arch. Ophth. 2:545 ( (Nov.) ) 1929.Crossref 6. Black, M.: Twins with High Hyperopia , Am. J. Ophth. 7:375, 1924. 7. Brav, A.: Bilateral Macular Coloboma , Am. J. Ophth. 17:1151, 1934. 8. Bunce, A. H., and Dougherty, M. S.: Diabetes Mellitus in Twins , J. A. M. A. 92:52 ( (Jan. 5) ) 1929.Crossref 9. Danforth, C. H.: Resemblances and Differences in Twins , J. Hered. 10:399, 1919. 10. Dickinson, H.: Am. J. Ophth. 17:748, 1934. 11. Emerson, L.: Equal Ametropia in Twins , Am. J. Ophth. 7:966, 1924. 12. Folk, M. L.: Histopathology of Coloboma of the Choroid and Optic-Nerve Entrance , Am. J. Ophth. 17:1126, 1934. 13. Friedenwald, J. S.: The Pathology of the Eye , New York, The Macmillan Company, 1929. 14. Gesell, A.: Hemihypertrophy and Mental Defect , Arch. Neurol. & Psychiat. 6:400 ( (Oct.) ) 1921. 15. Mental and Physical Correspondence in Twins , Scient. Monthly 14:304, 1922. 16. Hemihypertrophy and Twinning: A Further Study of the Nature of Hemihypertrophy with Report of a New Case , Am. J. M. Sc. 173:542, 1927. 17. Behavior Resemblance in Identical Infant Twins , Eugenical News 14:72, 1929. 18. The Developmental Psychology of Twins , in Murchison, Carl: A Handbook of Child Psychology , Worcester, Mass., Clark University Press, 1931, p. 158. 19. Murchison and Thompson, H.: Learning and Growth in Identical Infant Twins: An Experimental Study by the Method of Co-Twin Control , Genetic Psychol. Monogr. 6:1, 1929. 20. Glover, L. P.: Amblyopia in Identical Twins , Am. J. Ophth. 15:140, 1932. 21. Halbertsma, K. T. A.: Observations on the Corneal Curvature, Astigmatism and Refraction in Several Pairs of Twins Belonging to the Same Family , Arch. f. Ophth. 123:632, 1930. 22. Heinonen, O.: Ueber die Refraktion bei eineiigen Zwillingen, speziell in Hinsicht der asymmetrischen Fälle , Acta ophth. 2:35, 1924. 23. Hessin: Family Coloboma in Iris and Choroid , abstr., Klin. Monatsbl. f. Augenh. 52:329, 1914. 24. Huber, A.: Ophthalmologische Untersuchungen an eineiigen und zweieiigen Zwillingen , Arch. d. Julius Klaus Stiftg. f. Vererbsforsch. 6:41, 1931. 25. Huxley, J. S.: Problems of Relative Growth , New York, Lincoln MacVeagh, The Dial Press, 1932. 26. Jablonski, W.: Ein Beitrag zur Vererbung der Refraktion menschlicher Augen , Arch. f. Augenh. 91:309, 1922. 27. Jackson, E.: Coloboma in the Eye , Am. J. Ophth. 17:540, 1934. 28. Kiehle, F. A., and Pugmire, C.: Buphthalmos in Identical Twins , Arch. Ophth. 12:751 ( (May) ) 1934.Crossref 29. Landolt, M.: Equal Ametropia in Twins , Am. J. Ophth. 7:723, 1924. 30. Libby, G. F.: Heredity in Relation to the Eye , Ophthalmology 9:165, 1913. 31. Loeb, C.: A Case of Hereditary Bilateral Upward Coloboma of the Iris, with Remarks on Hereditary Blindness , Ann. Ophth. 26:573, 1917. 32. McFarland, J., and Meade, T. S.: Genetic Origin of Tumors Supported by Their Simultaneous and Symmetrical Occurrence in Homologous Twins , Am. J. M. Sc. 184:66, 1932.Crossref 33. Mann, I. C.: The Development of the Human Eye , London, Cambridge University Press, 1928. 34. May, C. H.: Manual of the Diseases of the Eye , ed. 8, New York, William Wood & Company, 1914. 35. Müller-Kannberg: Zur Casuistic der Opticus-Colobome , Klin. Monatsbl. f. Augenh. 32:173, 1894. 36. Neff, F. C.: Exophthalmic Goiter in Identical Twin Girls , J. Pediat. 1:239, 1932.Crossref 37. Nettleship, E.: Some Unusual Degrees of Colour-Blindness , Tr. Ophth. Soc. U. Kingdom 32:309, 1912. 38. Pillat, A.: Zur "Aehnlichkeitsdiagnose" der Augenmerkmale bei eineiigen Zwillingen und über "Spiegelbildsymmetrie" gewisser Merkmale , Ztschr. f. Augenh. 71:35, 1930. 39. Rife, D. C.: Genetic Studies of Monozygotic Twins: Finger-Patterns and Eye-Color as Criteria of Monozygosity , J. Hered. 24:406, 1933. 40. Ring, G. O.: Concerning Coloboma of the Iris in Association with Congenital Cataract , Ophth. Rec. 26:113, 1917. 41. Risley, S. D.: Aniridia with Interesting Family History , Tr. Coll. Physicians Philadelphia 37:397, 1915. 42. Rones, B.: The Genesis of Atypical Ocular Coloboma , Am. J. Ophth. 17:883, 1934. 43. Rychener, R. O.: Identical Twins with Hyperopia, Amblyopia ex Anopsia, and Colloid Deposits in Optic Disks , Am. J. Ophth. 14:685, 1931. 44. Schmidt: Klin. Monatsbl. f. Augenh. 80:553, 1928. 45. Shannon, C. E. G.: Two Cases of Congenital Iris Coloboma , Ophth. Rec. 26:398, 1917. 46. Siemens, H. W.: Die Zwillingspathologie , Berlin, Julius Springer, 1924. 47. Silcock, A. Q.: Hereditary Sarcoma of the Eyeball in Three Generations , Brit. M. J. 1:1079, 1892. 48. Sivelli, P.: Nistagmo orizzontale congenito in una coppia di gemelli , Riv. di clin. pediat. 29:648, 1931. 49. Snell, S.: Coloboma of the Iris in Each Eye, Occurring in Five Generations , Tr. Ophth. Soc. U. Kingdom 28:148, 1908. 50. Sorsby, A.: Three Groups of Unusual Fundus Disturbances , Proc. Roy. Soc. Med. 27:694, 1934. 51. Speman, H.: Ueber experimentell erzeugte Doppelbildungen mit cyclopischem Defekt , Zool. Jahresb. (supp.) 7:429, 1904. 52. Stern, H. J.: A Comparative Investigation of the Ocular Fundi of Twins , Klin. Monatsbl. f. Augenh. 90:215, 1933. 53. Stockard, C. R.: An Experimental Study of the Position of the Optic Anlage in Amblystoma Punctatum , Am. J. Anat. 15:253, 1913.Crossref 54. Tobias, G.: Ein Beitrag zur Vererbungsmöglichkeit erworbener Augendefekte , Klin. Monatsbl. f. Augenh. 49:212, 1911. 55. Velhagen: Atypisches Coloboma Iridis congenitum beim Vater; Aniridia congenita bei den Kindern , München. med. Wchnschr. 70:469, 1923. 56. Waardenburg, P. J.: Refraktion und Zwillingsforschung , Klin. Monatsbl. f. Augenh. 84:593, 1930. 57. Weitz, W.: Studien an eineiigen Zwillingen , Ztschr. f. klin. Med. 101:115, 1924. 58. Weninger, J.: Ueber die Weichteile der Augengegend bei erbgleichen Zwillingen , Anthrop. Anz. 9:57, 1932. 59. Wilson, J. A.: Twins with Eye Defects: Ametropia and Strabismus , Brit. J. Ophth. 16:421, 1932.Crossref 60. Wilson, S. A. K., and Wolfsohn, J. M.: Organic Nervous Disease in Identical Twins , Arch. Neurol. & Psychiat. 21:477 ( (March) ) 1929.

Journal

Archives of OphthalmologyAmerican Medical Association

Published: Jun 1, 1936

References

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