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Congenital Corneal Dystrophy: Progressive Sensorineural Deafness in a Family

Congenital Corneal Dystrophy: Progressive Sensorineural Deafness in a Family Abstract A family has three siblings suffering from congenital corneal dystrophy in association with progressive sensorineural deafness. With the parents of the propositi being first cousins, an autosomal recessive mode of inheritance is suggested. All the positive findings in these patients are attributed to a single gene. References 1. Walsh FB: Clinical Neuro-ophthalmology . Baltimore, Williams & Wilkins Co, 1957, pp 342-343. 2. Maumenee AE: Congenital hereditary corneal dystrophy . Amer J Ophthal 50:1114-1124, 1960. 3. Keates R, Cvintal T: Congenital hereditary corneal dystrophy . Amer J Ophthal 60:892-894, 1965. 4. Proctor CA, Proctor B: Understanding hereditary nerve deafness . Arch Otolaryng 85:23-40, 1967.Crossref 5. Paparella M, Suguira S, Hoshino T: Familial progressive sensorineural deafness . Arch Otolaryng 90:44-52, 1969.Crossref 6. Goodhill V: The nerve-deaf child: Significance of RH, maternal rubella, and other etiologic factors . Ann Otol 59:1123-1147, 1950. 7. Cawthorne TE, Hinchcliffe R: Familial perceptive deafness . Pract Otorhinolaryng 19:69-83, 1957. 8. Proctor CA, Proctor B: Understanding hereditary nerve deafness . Arch Otolaryng 85:23-41, 1967.Crossref 9. Scheie HG, Hambrick GW, Barness LA: A newly recognized form fruste of Hurler's disease (gargoylism) . Amer J Ophthal 53:753-769, 1962. 10. Cogan DG: Syndrome of nonsyphilitic interstitial keratitis and vestibuloauditory symptoms . Arch Ophthal 33:144-149, 1945.Crossref 11. Norton EWD, Cogan DG: Syndrome of non-syphilitic interstitial keratitis and vestibuloauditory symptoms . Arch Ophthal 61:695-697, 1959.Crossref 12. Franceschetti A, Klein D: Cornea: The heredofamilial dystrophies of the cornea , in Waardenburg PJ, Franceschetti A, Klein D: Genetics and Ophthalmology . Assen, Netherlands, Royal Van Gorcum & Co, 1961, pp 456-462. 13. Duke-Elder S, Leigh AG: System of Ophthalmology . London, Henry Kimpton, 1965, vol 8 (pt 2), p 939. 14. Lichter PR, Shaffer RN: Interstitial keratitis and glaucoma . Amer J Ophthal 68:241-248, 1969. 15. Francois J: Heredofamilial corneal dystrophies . Trans Ophthal Soc UK 86:367-416, 1966. 16. Kenyon KR, Maumenee AE: The histological and ultrastructural pathology of congenital hereditary corneal dystrophy: A case report . Invest Ophthal 7:475-500, 1968. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Ophthalmology American Medical Association

Congenital Corneal Dystrophy: Progressive Sensorineural Deafness in a Family

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References (15)

Publisher
American Medical Association
Copyright
Copyright © 1971 American Medical Association. All Rights Reserved.
ISSN
0003-9950
eISSN
1538-3687
DOI
10.1001/archopht.1971.00990050029005
Publisher site
See Article on Publisher Site

Abstract

Abstract A family has three siblings suffering from congenital corneal dystrophy in association with progressive sensorineural deafness. With the parents of the propositi being first cousins, an autosomal recessive mode of inheritance is suggested. All the positive findings in these patients are attributed to a single gene. References 1. Walsh FB: Clinical Neuro-ophthalmology . Baltimore, Williams & Wilkins Co, 1957, pp 342-343. 2. Maumenee AE: Congenital hereditary corneal dystrophy . Amer J Ophthal 50:1114-1124, 1960. 3. Keates R, Cvintal T: Congenital hereditary corneal dystrophy . Amer J Ophthal 60:892-894, 1965. 4. Proctor CA, Proctor B: Understanding hereditary nerve deafness . Arch Otolaryng 85:23-40, 1967.Crossref 5. Paparella M, Suguira S, Hoshino T: Familial progressive sensorineural deafness . Arch Otolaryng 90:44-52, 1969.Crossref 6. Goodhill V: The nerve-deaf child: Significance of RH, maternal rubella, and other etiologic factors . Ann Otol 59:1123-1147, 1950. 7. Cawthorne TE, Hinchcliffe R: Familial perceptive deafness . Pract Otorhinolaryng 19:69-83, 1957. 8. Proctor CA, Proctor B: Understanding hereditary nerve deafness . Arch Otolaryng 85:23-41, 1967.Crossref 9. Scheie HG, Hambrick GW, Barness LA: A newly recognized form fruste of Hurler's disease (gargoylism) . Amer J Ophthal 53:753-769, 1962. 10. Cogan DG: Syndrome of nonsyphilitic interstitial keratitis and vestibuloauditory symptoms . Arch Ophthal 33:144-149, 1945.Crossref 11. Norton EWD, Cogan DG: Syndrome of non-syphilitic interstitial keratitis and vestibuloauditory symptoms . Arch Ophthal 61:695-697, 1959.Crossref 12. Franceschetti A, Klein D: Cornea: The heredofamilial dystrophies of the cornea , in Waardenburg PJ, Franceschetti A, Klein D: Genetics and Ophthalmology . Assen, Netherlands, Royal Van Gorcum & Co, 1961, pp 456-462. 13. Duke-Elder S, Leigh AG: System of Ophthalmology . London, Henry Kimpton, 1965, vol 8 (pt 2), p 939. 14. Lichter PR, Shaffer RN: Interstitial keratitis and glaucoma . Amer J Ophthal 68:241-248, 1969. 15. Francois J: Heredofamilial corneal dystrophies . Trans Ophthal Soc UK 86:367-416, 1966. 16. Kenyon KR, Maumenee AE: The histological and ultrastructural pathology of congenital hereditary corneal dystrophy: A case report . Invest Ophthal 7:475-500, 1968.

Journal

Archives of OphthalmologyAmerican Medical Association

Published: Jan 1, 1971

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