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Dominant Microspherophakia

Dominant Microspherophakia Abstract Microspherophakia, upward subluxation of the lens, myopia, retinal detachment, and inguinal hernias in various combinations were found in 11 individuals and three generations of one family. The mode of inheritance is compatible with a variable expressive dominant trait. There were no other stigmata of Marfan's or Marchesani's syndromes. The basic defect is postulated to be in mesodermal development, resulting in abnormal ciliary and globe development responsible for the myopia and microspherophakia and a mild connective tissue defect to account for the increased incidence of inguinal hernias. References 1. Mathur SP, Sharma GK, Makhija JM: Spherophakia . Ophthalmologica 153:419-422, 1967.Crossref 2. Shapira TM: Microphakia and spherophakia with glaucoma . Amer J Ophthal 17:726-735, 1934. 3. Waardenburg PJ, Franceschetti A, Klein D: Genetics and Ophthalmology . Springfield, Ill, Charles C Thomas Publisher, 1961, p 960. 4. Marchesani O: Brachy dactylia and congenital spherical lens as systemic disease . Klin Mbl Augenheilk 103:392-406, 1939. 5. Sohar E: Renal disease, inner ear deafness and ocular changes: A new heredofamilial syndrome . Arch Intern Med 97:627-630, 1956.Crossref 6. Magnasco A, et al: Unusual malformation association: Mandibulofacial dysostosis and bilateral microspherophakia . Ann Ottal 91:489-496, 1965. 7. Bessiere E, Riviere J, Leuret JP: Le rebeller, an association of Klinefelter's disease and congenital anomalies, camptodactyly, microphakia . Bull Soc Ophtal Franc 62:197-200, 1962. 8. Fleischer B: Abnorme Kleinheit und Kugelgestalt der Linse bei zwei Geschwisterpaaren . Arch Augenheilk 80:248, 1916. 9. Gil RR: Familiäre Microphakie . Klin Mbl Augenheilk 80:411, 1928. 10. Franceschetti A: Ueber Mikrophakie und deren Erbgang . Klin Mbl Augenheilk 85:285, 1930. 11. Waardenburg PJ: Sparophakie , in Das menschliche Auge und seine Erbanlagen . Hague, Netherlands, M. Nijhoff, 1932. 12. Bücklers M: Mikrophakie , in Gütt A (ed): Handbuch Erbkranhkeiten: Erbleiden des Auges . Leipzig, Germany, Georg Thieme, 1938, vol 5, p 106. 13. McKusick VA: Heritable Disorders of Connective Tissue , ed 3. St. Louis, CV Mosby Co, 1966. 14. Watson EH, Lowrey GH: Growth and Development of Children . Chicago, Year-Book Medical Publishers Inc, 1951. 15. Kloepfer HW, Rosenthal JW: Possible genetic carriers in spherophakia: Brachymorphia syndrome (Marchesani) . Amer J Human Genet 7:398-425, 1955. 16. Lisch K: Ueber kongenitale Formanomalein der Linse . Graefe Arch Klin Exp Ophthal 157:287-293, 1956.Crossref 17. Schmid AE: Light reflexes in spherophakia . Ophthalmologica 111:359-364, 1946.Crossref 18. Vogt A: Atlas der Spaltlampenmikroskopie , ed 2. Berlin, Springer Verlag, 1931, vol 2, pp 735-740. 19. Bronner A, Benck P: Microspherophakie avec agenesie zonulaire . Bull Soc Ophtal Franc 65:648-654, 1965. 20. Cordiale C: Un cas de microphakie . Ann Oculist 2:346-353, 1901. 21. Muntendam, cited by Shapira, TM.2 22. Axenfeld T: Spontanluxation der durchsichtigen luxierten Linse in die Vorderkammer . Klin Mbl Augenheilk 52:195-201, 1914. 23. Wessely K: Ueber das Verhalten der Zonula bei Spontanluxation in die Vorderkammer . Arch Augenheilk 85:63-69, 1919. 24. Saeger F: Hochgradige Myopie durch angeborene Mikrophakie ohne Dislokation . Klin Mbl Augenheilk 80:117-180, 1928. 25. Hudelo J: La microspherophakie . Bull Soc Ophtal Franc 66:49-57, 1966. 26. Meyer H: Linsenmyopie und kogenitale Mikrophakie . Klin Mbl Augenheilk 85:525-531, 1930. 27. Gnad F: Ueber Mikrophakie . Klin Mbl Augenheilk 87:33-38, 1931. 28. Wessely K: Demonstration einiger Seltener Klinischer Fälle . Klin Mbl Augenheilk 88:244-245, 1932. 29. Nutt AB: Microphakia . Trans Ophthal Soc UK 54:628-629, 1933. 30. Matzuzawa S: A case of microphakia with luxation into the anterior chamber . Acta Soc Ophthal Jap 39:2167-2170, 1936. 31. Jacobs I: Spherophakia, luxation of lenses and secondary glaucoma relieved by extraction of lenses . Amer J Ophthal 20:1042-1044, 1937. 32. Lisch K: Über Microphakie (Sphärophakie) und Ectopia Lentis . Arch Ophthal (Berlin) 144:628-642, 1942.Crossref 33. Nirankari MS, Maudgal MC: Microphakia . Brit J Ophthal 43:314-316, 1959.Crossref 34. Dayal Y, Mehra KS: Spherophakia . Amer J Ophthal 50:333-334, 1960. 35. Forsius H, Raitta C: Angeborene Kugellinse als Ursache hochgradiger Myopie . Acta Ophthal 42:812-819, 1964.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Ophthalmology American Medical Association

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Publisher
American Medical Association
Copyright
Copyright © 1971 American Medical Association. All Rights Reserved.
ISSN
0003-9950
eISSN
1538-3687
DOI
10.1001/archopht.1971.00990050536003
Publisher site
See Article on Publisher Site

Abstract

Abstract Microspherophakia, upward subluxation of the lens, myopia, retinal detachment, and inguinal hernias in various combinations were found in 11 individuals and three generations of one family. The mode of inheritance is compatible with a variable expressive dominant trait. There were no other stigmata of Marfan's or Marchesani's syndromes. The basic defect is postulated to be in mesodermal development, resulting in abnormal ciliary and globe development responsible for the myopia and microspherophakia and a mild connective tissue defect to account for the increased incidence of inguinal hernias. References 1. Mathur SP, Sharma GK, Makhija JM: Spherophakia . Ophthalmologica 153:419-422, 1967.Crossref 2. Shapira TM: Microphakia and spherophakia with glaucoma . Amer J Ophthal 17:726-735, 1934. 3. Waardenburg PJ, Franceschetti A, Klein D: Genetics and Ophthalmology . Springfield, Ill, Charles C Thomas Publisher, 1961, p 960. 4. Marchesani O: Brachy dactylia and congenital spherical lens as systemic disease . Klin Mbl Augenheilk 103:392-406, 1939. 5. Sohar E: Renal disease, inner ear deafness and ocular changes: A new heredofamilial syndrome . Arch Intern Med 97:627-630, 1956.Crossref 6. Magnasco A, et al: Unusual malformation association: Mandibulofacial dysostosis and bilateral microspherophakia . Ann Ottal 91:489-496, 1965. 7. Bessiere E, Riviere J, Leuret JP: Le rebeller, an association of Klinefelter's disease and congenital anomalies, camptodactyly, microphakia . Bull Soc Ophtal Franc 62:197-200, 1962. 8. Fleischer B: Abnorme Kleinheit und Kugelgestalt der Linse bei zwei Geschwisterpaaren . Arch Augenheilk 80:248, 1916. 9. Gil RR: Familiäre Microphakie . Klin Mbl Augenheilk 80:411, 1928. 10. Franceschetti A: Ueber Mikrophakie und deren Erbgang . Klin Mbl Augenheilk 85:285, 1930. 11. Waardenburg PJ: Sparophakie , in Das menschliche Auge und seine Erbanlagen . Hague, Netherlands, M. Nijhoff, 1932. 12. Bücklers M: Mikrophakie , in Gütt A (ed): Handbuch Erbkranhkeiten: Erbleiden des Auges . Leipzig, Germany, Georg Thieme, 1938, vol 5, p 106. 13. McKusick VA: Heritable Disorders of Connective Tissue , ed 3. St. Louis, CV Mosby Co, 1966. 14. Watson EH, Lowrey GH: Growth and Development of Children . Chicago, Year-Book Medical Publishers Inc, 1951. 15. Kloepfer HW, Rosenthal JW: Possible genetic carriers in spherophakia: Brachymorphia syndrome (Marchesani) . Amer J Human Genet 7:398-425, 1955. 16. Lisch K: Ueber kongenitale Formanomalein der Linse . Graefe Arch Klin Exp Ophthal 157:287-293, 1956.Crossref 17. Schmid AE: Light reflexes in spherophakia . Ophthalmologica 111:359-364, 1946.Crossref 18. Vogt A: Atlas der Spaltlampenmikroskopie , ed 2. Berlin, Springer Verlag, 1931, vol 2, pp 735-740. 19. Bronner A, Benck P: Microspherophakie avec agenesie zonulaire . Bull Soc Ophtal Franc 65:648-654, 1965. 20. Cordiale C: Un cas de microphakie . Ann Oculist 2:346-353, 1901. 21. Muntendam, cited by Shapira, TM.2 22. Axenfeld T: Spontanluxation der durchsichtigen luxierten Linse in die Vorderkammer . Klin Mbl Augenheilk 52:195-201, 1914. 23. Wessely K: Ueber das Verhalten der Zonula bei Spontanluxation in die Vorderkammer . Arch Augenheilk 85:63-69, 1919. 24. Saeger F: Hochgradige Myopie durch angeborene Mikrophakie ohne Dislokation . Klin Mbl Augenheilk 80:117-180, 1928. 25. Hudelo J: La microspherophakie . Bull Soc Ophtal Franc 66:49-57, 1966. 26. Meyer H: Linsenmyopie und kogenitale Mikrophakie . Klin Mbl Augenheilk 85:525-531, 1930. 27. Gnad F: Ueber Mikrophakie . Klin Mbl Augenheilk 87:33-38, 1931. 28. Wessely K: Demonstration einiger Seltener Klinischer Fälle . Klin Mbl Augenheilk 88:244-245, 1932. 29. Nutt AB: Microphakia . Trans Ophthal Soc UK 54:628-629, 1933. 30. Matzuzawa S: A case of microphakia with luxation into the anterior chamber . Acta Soc Ophthal Jap 39:2167-2170, 1936. 31. Jacobs I: Spherophakia, luxation of lenses and secondary glaucoma relieved by extraction of lenses . Amer J Ophthal 20:1042-1044, 1937. 32. Lisch K: Über Microphakie (Sphärophakie) und Ectopia Lentis . Arch Ophthal (Berlin) 144:628-642, 1942.Crossref 33. Nirankari MS, Maudgal MC: Microphakia . Brit J Ophthal 43:314-316, 1959.Crossref 34. Dayal Y, Mehra KS: Spherophakia . Amer J Ophthal 50:333-334, 1960. 35. Forsius H, Raitta C: Angeborene Kugellinse als Ursache hochgradiger Myopie . Acta Ophthal 42:812-819, 1964.Crossref

Journal

Archives of OphthalmologyAmerican Medical Association

Published: May 1, 1971

References

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