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Electroretinography and Fundus Oculi Findings in Hurler's Disease and Allied Mucopolysaccharidoses

Electroretinography and Fundus Oculi Findings in Hurler's Disease and Allied Mucopolysaccharidoses Abstract Introduction It has become apparent in recent years that Hurler's syndrome (gargoylism) is not a single entity but is one of a spectrum of genetically-determined biochemical disorders. A major advance in understanding and differentiating the condition occurred with the discovery by Dorfman and Lorencz8 in 1957, and Meyer21 in 1958, of increased mucopolysaccharides (MPS's) in the urine of patients with Hurler's disease. Meyer suggested that abnormally elevated amounts of mucopolysaccharides, chondroitin sulfate B, and heparitin sulfate, result from a genetic abnormality in the differentiation of the fibroblasts which produce these substances. There is an alternate theory of faulty binding of mucopolysaccharides to protein because of an abnormality in the latter.9Detailed qualitative and quantitative examination of the urinary MPS's is necessary for accurate diagnosis and classification.18 On clinical, biochemical, and genetic grounds, McKusick22 has grouped the mucopolysaccharide diseases as follows:MPS 1.—The autosomal-recessive Hurler's syndrome References 1. Arden, G.B., and Fojas, M.R.: Electrophysiological Abnormalities in Pigment Degeneration of Retina , Arch Ophthal 68:369-389, 1962.Crossref 2. Bassen, F.A., and Kornzweig, A.L.: Malformation of Erythrocytes in Case of Atypical Retinitis Pigmentosa , Blood 5:381-387, 1950. 3. Beebe, R.J., and Formel, P.F.: Gargoylism: Sex-linked Transmission in Nine Males , Trans Amer Clin Climat Assoc 66:199-207, 1954. 4. Brailsford, J.E.: Chondro-osteo-dystrophy, Roentgenographic and Clinical Features of Child With Dislocation of Vertebrae , Amer J Surg 7:404-410, 1929.Crossref 5. Brante, G.: Gargoylism: A Mucopolysaccharidosis , Scand J Clin Lab Invest 4:43-46, 1952.Crossref 6. Campbell, D.A., and Tanks, E.L.: Biochemical Findings in Human Retinitis Pigmentosa with Particular Reference to Vitamin A Deficiency , Brit J Ophthal 46:151-164, 1964.Crossref 7. Cogan, D.G.: Primary Chorio-retinal Aberrations With Night Blindness: Pathology , Trans Amer Acad Ophthal Otolaryngol 54:629-661, 1949-50. 8. Dorfman, A., and Lorencz, A.E.: Occurrence of Urinary Acid Mucopolysaccharides in the Hurler Syndrome , Proc Nat Acad Sci USA 43:443-444, 1957.Crossref 9. Dorfman, A.: Metabolism of Acid Mucopolysaccharides , Biophys J 4( (suppl) ):155, 1964.Crossref 10. Dowling, J.E., and Sidman, R.L.: Inherited Retinal Dystrophy in Rat , J Cell Biol 14:73-109, 1962.Crossref 11. Emery, A.E.H.: Unpublished observation on cases reported by Beebe and Formel. 12. François, J., and De Rouck, A.: Electroretinoencephalography in Hurler's Disease , Ophthalmolicia 139:45-55, 1960.Crossref 13. Gouras, P., and Carr, R.E.: Electrophysiological Studies in Early Retinitis Pigmentosa , Arch Ophthal 72:104-110, 1964.Crossref 14. Hooper, J.M.D.: An Unusual Case of Gargoylism , Guy Hosp Rep 101:222-228, 1952. 15. Hunter, C.: A Rare Disease in Two Brothers , Proc Roy Soc Med 10:104-116, 1917. 16. Hurler, G.: Ueber einen Typ multipler Abertungen, vorwiegend am Skellettsystem , Z Kindern 24:220-234, 1919. 17. Kaplan, D.: Brooklyn, personal communication to the authors. 18. Kaplan, D., and Meyer, R.: The Fate of Injected Mucopolysaccharides , J Clin Invest 41:743-749, 1962.Crossref 19. Kinoshita, J.H.: Selected Topics in Ophthalmic Biochemistry , Arch Ophthal 72:554-572, 1964.Crossref 20. Lindsay, S., et al: Gargoylism: Study of Pathological Lesions and Clinical Review of 12 Cases , Amer J Dis Child 76:239-306, 1948.Crossref 21. Meyer, K., et al: Excretion of Sulfated Mucopolysaccharides in Gargoylism (Hurler's Syndrome) , Proc Soc Exper Biol Med 97:275-279, 1958.Crossref 22. McKusick, V.A.: The Genetic Mucopolysaccharidoses, Medicine, to be published. 23. McKusick, V.A.: " The Hurler Syndrome ," in Heritable Disorders of Connective Tissue , ed 2, St. Louis: C. V. Mosby Co., 1960. 24. Morquio, L.: Sur une forme de dystrophie osseuse familiale , Bull Soc Pediat Paris 27:145-152, 1929. 25. Newell, F.W., and Kloistinen, A.: Lipochondrodystrophy (Gargoylism): Pathological Findings in Five Eyes of Three Patients , Arch Ophthal 53:45-62, 1955.Crossref 26. Nja, A.: A Sex-linked Type of Gargoylism , Acta Paediat 33:267-286, 1946.Crossref 27. Sanfilippo, S.J., and Good, R.A.: A Laboratory Study of the Hurler's Syndrome , Amer J Dis Child 102:766, 1961. 28. Sanfilippo, S.J., and Good, R.A.: Urinary Acid Mucopolysaccharides (AMP) in the Hurler Syndrome and Morquio's Disease , J Pediat 614: 296-297, 1962.Crossref 29. Sapuppo, C.: Malattia di Pfaundler Hurler , G Ital Oftal 6:563-586, 1953. 30. Scheie, H.C., and Hambrick, G.W., Jr.: A Newly Recognized Forme Fruste of Hurler's Disease (Gargoylism) , Amer J Ophthal 53:753-769, 1962. 31. Sidman, R.L.: Histochemical Studies on Photoreceptor Cells , Trans NY Acad Sci 72:162-195, 1958. 32. Sloan, L.L.: Light Sense in Pigmentary Degeneration of the Retina , Arch Ophthal 28:613-631, 1942.Crossref 33. Sloan, L.L.: Rate of Dark Adaptation and Regional Threshold Gradient of the Dark-Adapted Eye: Physiologic and Clinical Studies , Amer J Ophthal 30:705-720, 1947. 34. Terry, K., and Linker, A.: Distinction Among Four Forms of Hurler's Syndrome , Proc Soc Exp Biol Med 115:394-402, 1964.Crossref 35. Zeavin, B.H., and Wald, G.: Rod and Cone Vision in Retinitis Pigmentosa , Amer J Ophthal 42: 253-269, 1956. 36. Jayle, G.E., and Fantin, J.: A Case of Hurler's Disease With Electroretinographic Evidence , Bull Soc Ophthal 63:577-581, 1963. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Ophthalmology American Medical Association

Electroretinography and Fundus Oculi Findings in Hurler's Disease and Allied Mucopolysaccharidoses

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Publisher
American Medical Association
Copyright
Copyright © 1965 American Medical Association. All Rights Reserved.
ISSN
0003-9950
eISSN
1538-3687
DOI
10.1001/archopht.1965.00970040598003
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Abstract

Abstract Introduction It has become apparent in recent years that Hurler's syndrome (gargoylism) is not a single entity but is one of a spectrum of genetically-determined biochemical disorders. A major advance in understanding and differentiating the condition occurred with the discovery by Dorfman and Lorencz8 in 1957, and Meyer21 in 1958, of increased mucopolysaccharides (MPS's) in the urine of patients with Hurler's disease. Meyer suggested that abnormally elevated amounts of mucopolysaccharides, chondroitin sulfate B, and heparitin sulfate, result from a genetic abnormality in the differentiation of the fibroblasts which produce these substances. There is an alternate theory of faulty binding of mucopolysaccharides to protein because of an abnormality in the latter.9Detailed qualitative and quantitative examination of the urinary MPS's is necessary for accurate diagnosis and classification.18 On clinical, biochemical, and genetic grounds, McKusick22 has grouped the mucopolysaccharide diseases as follows:MPS 1.—The autosomal-recessive Hurler's syndrome References 1. Arden, G.B., and Fojas, M.R.: Electrophysiological Abnormalities in Pigment Degeneration of Retina , Arch Ophthal 68:369-389, 1962.Crossref 2. Bassen, F.A., and Kornzweig, A.L.: Malformation of Erythrocytes in Case of Atypical Retinitis Pigmentosa , Blood 5:381-387, 1950. 3. Beebe, R.J., and Formel, P.F.: Gargoylism: Sex-linked Transmission in Nine Males , Trans Amer Clin Climat Assoc 66:199-207, 1954. 4. Brailsford, J.E.: Chondro-osteo-dystrophy, Roentgenographic and Clinical Features of Child With Dislocation of Vertebrae , Amer J Surg 7:404-410, 1929.Crossref 5. Brante, G.: Gargoylism: A Mucopolysaccharidosis , Scand J Clin Lab Invest 4:43-46, 1952.Crossref 6. Campbell, D.A., and Tanks, E.L.: Biochemical Findings in Human Retinitis Pigmentosa with Particular Reference to Vitamin A Deficiency , Brit J Ophthal 46:151-164, 1964.Crossref 7. Cogan, D.G.: Primary Chorio-retinal Aberrations With Night Blindness: Pathology , Trans Amer Acad Ophthal Otolaryngol 54:629-661, 1949-50. 8. Dorfman, A., and Lorencz, A.E.: Occurrence of Urinary Acid Mucopolysaccharides in the Hurler Syndrome , Proc Nat Acad Sci USA 43:443-444, 1957.Crossref 9. Dorfman, A.: Metabolism of Acid Mucopolysaccharides , Biophys J 4( (suppl) ):155, 1964.Crossref 10. Dowling, J.E., and Sidman, R.L.: Inherited Retinal Dystrophy in Rat , J Cell Biol 14:73-109, 1962.Crossref 11. Emery, A.E.H.: Unpublished observation on cases reported by Beebe and Formel. 12. François, J., and De Rouck, A.: Electroretinoencephalography in Hurler's Disease , Ophthalmolicia 139:45-55, 1960.Crossref 13. Gouras, P., and Carr, R.E.: Electrophysiological Studies in Early Retinitis Pigmentosa , Arch Ophthal 72:104-110, 1964.Crossref 14. Hooper, J.M.D.: An Unusual Case of Gargoylism , Guy Hosp Rep 101:222-228, 1952. 15. Hunter, C.: A Rare Disease in Two Brothers , Proc Roy Soc Med 10:104-116, 1917. 16. Hurler, G.: Ueber einen Typ multipler Abertungen, vorwiegend am Skellettsystem , Z Kindern 24:220-234, 1919. 17. Kaplan, D.: Brooklyn, personal communication to the authors. 18. Kaplan, D., and Meyer, R.: The Fate of Injected Mucopolysaccharides , J Clin Invest 41:743-749, 1962.Crossref 19. Kinoshita, J.H.: Selected Topics in Ophthalmic Biochemistry , Arch Ophthal 72:554-572, 1964.Crossref 20. Lindsay, S., et al: Gargoylism: Study of Pathological Lesions and Clinical Review of 12 Cases , Amer J Dis Child 76:239-306, 1948.Crossref 21. Meyer, K., et al: Excretion of Sulfated Mucopolysaccharides in Gargoylism (Hurler's Syndrome) , Proc Soc Exper Biol Med 97:275-279, 1958.Crossref 22. McKusick, V.A.: The Genetic Mucopolysaccharidoses, Medicine, to be published. 23. McKusick, V.A.: " The Hurler Syndrome ," in Heritable Disorders of Connective Tissue , ed 2, St. Louis: C. V. Mosby Co., 1960. 24. Morquio, L.: Sur une forme de dystrophie osseuse familiale , Bull Soc Pediat Paris 27:145-152, 1929. 25. Newell, F.W., and Kloistinen, A.: Lipochondrodystrophy (Gargoylism): Pathological Findings in Five Eyes of Three Patients , Arch Ophthal 53:45-62, 1955.Crossref 26. Nja, A.: A Sex-linked Type of Gargoylism , Acta Paediat 33:267-286, 1946.Crossref 27. Sanfilippo, S.J., and Good, R.A.: A Laboratory Study of the Hurler's Syndrome , Amer J Dis Child 102:766, 1961. 28. Sanfilippo, S.J., and Good, R.A.: Urinary Acid Mucopolysaccharides (AMP) in the Hurler Syndrome and Morquio's Disease , J Pediat 614: 296-297, 1962.Crossref 29. Sapuppo, C.: Malattia di Pfaundler Hurler , G Ital Oftal 6:563-586, 1953. 30. Scheie, H.C., and Hambrick, G.W., Jr.: A Newly Recognized Forme Fruste of Hurler's Disease (Gargoylism) , Amer J Ophthal 53:753-769, 1962. 31. Sidman, R.L.: Histochemical Studies on Photoreceptor Cells , Trans NY Acad Sci 72:162-195, 1958. 32. Sloan, L.L.: Light Sense in Pigmentary Degeneration of the Retina , Arch Ophthal 28:613-631, 1942.Crossref 33. Sloan, L.L.: Rate of Dark Adaptation and Regional Threshold Gradient of the Dark-Adapted Eye: Physiologic and Clinical Studies , Amer J Ophthal 30:705-720, 1947. 34. Terry, K., and Linker, A.: Distinction Among Four Forms of Hurler's Syndrome , Proc Soc Exp Biol Med 115:394-402, 1964.Crossref 35. Zeavin, B.H., and Wald, G.: Rod and Cone Vision in Retinitis Pigmentosa , Amer J Ophthal 42: 253-269, 1956. 36. Jayle, G.E., and Fantin, J.: A Case of Hurler's Disease With Electroretinographic Evidence , Bull Soc Ophthal 63:577-581, 1963.

Journal

Archives of OphthalmologyAmerican Medical Association

Published: Nov 1, 1965

References