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August 1971, Vol 86, No. 2 >
ARTICLE | August 1971

Ultrastructural Ocular Pathology of Hunter's Syndrome: Title and subTitle BreakSystemic Mucopolysaccharidosis Type II FREE

Trexler M. Topping, MD; Kenneth R. Kenyon, MD; Morton F. Goldberg, MD; A. Edward Maumenee, MD
[+] Author Affiliations

Submitted for publication Oct 5, 1970.

Reprint requests to Room 155, Woods Research Building, Johns Hopkins Hospital, 601 N Broadway, Baltimore 21205 (Dr. Kenyon).


Arch Ophthalmol. 1971;86(2):164-177. doi:10.1001/archopht.1971.01000010166009
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THE SYSTEMIC mucopolysaccharidoses (MPS) are of ophthalmologic interest because about 75% of patients with these inherited disorders of mucopolysaccharide metabolism develop clinically significant corneal clouding.1 The histologic and ultrastructural pathologic condition of the clouded corneas from these patients has been the subject of many reports.2-7 However, only one report8 has described the ocular histopathology of a systemic MPS case with clear corneas, which occurred in a patient with Hunter's syndrome.

Hunter's syndrome (systemic MPS type II), one of the six or more variants of the systemic MPS,1 resembles the more common Hurler's syndrome (gargoylism, systemic MPS type I) in several respects. Clinically, Hunter's syndrome appears as a less severe form of Hurler's with respect to progressive growth and mental retardation, coarse gargoyle-like facies, multiple skeletal deformities, hepatosplenomegaly, and early death. Both syndromes are also characterized by the increased urinary excretion and excessive tissue accumulations of two

REFERENCES

1 +
McKusick VA: Heritable Disorders of Connective Tissue , ed 3. St Louis, CV Mosby Co, 1966;.
2 +
Newell FW, Koistinen A:  Lipochondrodystrophy (gargoylism): Pathologic findings in five eyes of three patients . Arch Ophthal 53:45-62, 1955;.
3 +
Scheie HG, Hambrick GW Jr, Barness LA:  A newly recognized forme fruste of Hurler's disease (gargoylism) . Amer J Ophthal 53:749-769, 1962;.
4 +
Klika E, Kouček F:  L'histochimie et l'ultrastructure de la cornée dans un cas de gargoylisme . Ophthalmologica 151:568-579, 1966;.
5 +
Desvignes P, et al:  Aspect clinique, examen histologique et structural d'une cornée dystrophique de maladie de Hurler . Bull Soc Franc Ophtal 80:43-48, 1967;.
6 +
Pouliquen Y, et al:  Ultrastructure de la cornée dans un cas de polydystrophie de Hurler . Arch Ophtal 27:495-512, 1967;.
7 +
Rosen DA, et al:  Keratoplasty and electron microscopy of the cornea in systemic mucopolysaccharidosis (Hurler's disease) . Canad J Ophthal 3:218-230, 1968;.
8 +
Goldberg MF, Duke JR:  Ocular histopathology in Hunter's syndrome. Systemic mucopolysaccharidosis type II . Arch Ophthal 77:503-512, 1967;.
9 +
Danes BS, Bearn AG:  Hurler's syndrome: Demonstration of an inherited disorder of connective tissue in cell culture . Science 149:987-989, 1965;.
10 +
Van Hoof F, Hers HG:  L'ultrastructure des cellules hépatiques dans la maladie de Hurler (gargoylisme) . C R Acad Sci 259:1281-1283, 1964;.
11 +
Volk BW, Wallace BJ:  The liver in lipidosis: An electron microscopic and histochemical study . Amer J Path 49:203-225, 1966;.
12 +
Wallace BJ, et al:  Mucopolysaccharidosis type III: Morphologic and biochemical studies of two siblings with Sanfilippo syndrome . Arch Path 82:462-473, 1966;.
13 +
Lagunoff D, Ross R, Benditt EP:  Histochemical and electron microscopic study in a case of Hurler's disease . Amer J Path 41:273-286, 1962;.
14 +
Aleu FP, Terry RD, Zellweger H:  Electron microscopy of two cerebral biopsies in gargoylism . J Neuropath Exp Neurol 24:304-317, 1965;.
15 +
Gonatas NK, Gonatas J:  Ultrastructural and biochemical observations on a case of systemic late infantile lipidosis and its relationship to Tay-Sachs disease and gargoylism . J Neuropath Exp Neurol 24:318-340, 1965;.
16 +
Wallace BJ, et al:  Fine structural localization of two hydrolytic enzymes in the cerebellum of children with lipidosis . J Neuropath Exp Neurol 25:76-96, 1966;.
17 +
Cogan DG, Kuwabara T:  The sphingolipidoses and the eye . Arch Ophthal 79:437-452, 1968;.
18 +
Terry RD, Gonatas NK, Weiss M:  Ultrastructural studies in Alzheimer's pre-senile dementia . Amer J Path 44:269-297, 1964;.
19 +
Terry RD, Weiss M:  Studies in Tay-Sachs disease: II. Ultrastructure of the cerebrum . J Neuropath Exp Neurol 22:18-55, 1963;.
20 +
Kroll A, Kuwabara T:  Electron microscopy of a retinal abiotrophy . Arch Ophthal 71:683-690, 1964;.
21 +
Mizuno K, Nishida S:  Electron microscopic studies of human retinitis pigmentosa: I. Two cases of advanced retinitis pigmentosa . Amer J Ophthal 63:791-803, 1967;.
22 +
Fratantoni JC, Hall CW, Neufeld EF:  The defect in Hurler's and Hunter's syndromes: Faulty degradation of mucopolysaccharide . Proc Nat Acad Sci USA 60:699-706, 1968;.
23 +
Ledeen R, et al:  Structure comparison of the major monosialogangliosides from brains of normal human, gargoylism, and late infantile systemic lipidosis . J Neuropath Exp Neurol 24( (pt 1) ):341-351, 1965;.
24 +
Samuels S, et al:  Studies in Tay-Saehs disease: IV. Membranous cytoplasmic bodies . J Neuropath Exp Neurol 22:81-97, 1963;.
25 +
Samuels S, Gonatas NK, Weiss M:  Formation of the membranous cytoplasmic bodies in Tay-Sachs disease: An in vitro study . J Neuropath Exp Neurol 24:256-264, 1965;.
26 +
MacBrinn MC, et al:  Generalized gangliosidosis: Impaired cleavage of galactose from a mucopolysaccharide and a glycoprotein . Science 163:946-947, 1969;.
27 +
Gerich JE:  Hunter's syndrome: Beta-galactosidase deficiency in skin . New Eng J Med 280:338-343, 1969;.
28 +
MacBrinn M, et al:  Beta-galactosidase deficiency in the Hunter syndrome . New Eng J Med 281:338-343, 1969;.
29 +
Emery JM, Green WR, Wyllie RG: Ocular manifestations and pathology of generalized gangliosidosis. Read before the Wilmer Residents' Association Meeting, Baltimore, 1969.
30 +
Goldberg MF, Maumenee AE, McKusick VA:  Corneal dystrophies associated with abnormalities of mucopolysaccharide metabolism . Arch Ophthal 74:516-520, 1965;.
31 +
Klintworth GK, Vogel FS:  Macular corneal dystrophy: An inherited acid mucopolysaccharide storage disease of the corneal fibroblast . Amer J Path 45:565-586, 1964;.
32 +
Morgan G:  Macular dystrophy of the cornea . Brit J Ophthal 50:57-67, 1966;.
33 +
Offret G, et al:  La structure fine de certaines dystrophies cornéennes . Arch Ophthal 26:171-181, 1966;.
34 +
Teng CC:  Macular dystrophy of the cornea: a histochemical and electron microscopic study . Amer J Ophthal 62:436-454, 1966;.
35 +
Goldman JN, et al:  Structural alterations affecting transparency in swollen human corneas . Invest Ophthal 7:501-519, 1968;.
36 +
Pouliquen Y:  Ultrastructure des greffons lamellaires opaques . Arch Ophtal 27:803-806, 1967;.
37 +
Offret G:  Ultrastructure des greffons transfixiants opaques . Arch Ophtal 27:807-812, 1967;.

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1 +
McKusick VA: Heritable Disorders of Connective Tissue , ed 3. St Louis, CV Mosby Co, 1966;.
2 +
Newell FW, Koistinen A:  Lipochondrodystrophy (gargoylism): Pathologic findings in five eyes of three patients . Arch Ophthal 53:45-62, 1955;.
3 +
Scheie HG, Hambrick GW Jr, Barness LA:  A newly recognized forme fruste of Hurler's disease (gargoylism) . Amer J Ophthal 53:749-769, 1962;.
4 +
Klika E, Kouček F:  L'histochimie et l'ultrastructure de la cornée dans un cas de gargoylisme . Ophthalmologica 151:568-579, 1966;.
5 +
Desvignes P, et al:  Aspect clinique, examen histologique et structural d'une cornée dystrophique de maladie de Hurler . Bull Soc Franc Ophtal 80:43-48, 1967;.
6 +
Pouliquen Y, et al:  Ultrastructure de la cornée dans un cas de polydystrophie de Hurler . Arch Ophtal 27:495-512, 1967;.
7 +
Rosen DA, et al:  Keratoplasty and electron microscopy of the cornea in systemic mucopolysaccharidosis (Hurler's disease) . Canad J Ophthal 3:218-230, 1968;.
8 +
Goldberg MF, Duke JR:  Ocular histopathology in Hunter's syndrome. Systemic mucopolysaccharidosis type II . Arch Ophthal 77:503-512, 1967;.
9 +
Danes BS, Bearn AG:  Hurler's syndrome: Demonstration of an inherited disorder of connective tissue in cell culture . Science 149:987-989, 1965;.
10 +
Van Hoof F, Hers HG:  L'ultrastructure des cellules hépatiques dans la maladie de Hurler (gargoylisme) . C R Acad Sci 259:1281-1283, 1964;.
11 +
Volk BW, Wallace BJ:  The liver in lipidosis: An electron microscopic and histochemical study . Amer J Path 49:203-225, 1966;.
12 +
Wallace BJ, et al:  Mucopolysaccharidosis type III: Morphologic and biochemical studies of two siblings with Sanfilippo syndrome . Arch Path 82:462-473, 1966;.
13 +
Lagunoff D, Ross R, Benditt EP:  Histochemical and electron microscopic study in a case of Hurler's disease . Amer J Path 41:273-286, 1962;.
14 +
Aleu FP, Terry RD, Zellweger H:  Electron microscopy of two cerebral biopsies in gargoylism . J Neuropath Exp Neurol 24:304-317, 1965;.
15 +
Gonatas NK, Gonatas J:  Ultrastructural and biochemical observations on a case of systemic late infantile lipidosis and its relationship to Tay-Sachs disease and gargoylism . J Neuropath Exp Neurol 24:318-340, 1965;.
16 +
Wallace BJ, et al:  Fine structural localization of two hydrolytic enzymes in the cerebellum of children with lipidosis . J Neuropath Exp Neurol 25:76-96, 1966;.
17 +
Cogan DG, Kuwabara T:  The sphingolipidoses and the eye . Arch Ophthal 79:437-452, 1968;.
18 +
Terry RD, Gonatas NK, Weiss M:  Ultrastructural studies in Alzheimer's pre-senile dementia . Amer J Path 44:269-297, 1964;.
19 +
Terry RD, Weiss M:  Studies in Tay-Sachs disease: II. Ultrastructure of the cerebrum . J Neuropath Exp Neurol 22:18-55, 1963;.
20 +
Kroll A, Kuwabara T:  Electron microscopy of a retinal abiotrophy . Arch Ophthal 71:683-690, 1964;.
21 +
Mizuno K, Nishida S:  Electron microscopic studies of human retinitis pigmentosa: I. Two cases of advanced retinitis pigmentosa . Amer J Ophthal 63:791-803, 1967;.
22 +
Fratantoni JC, Hall CW, Neufeld EF:  The defect in Hurler's and Hunter's syndromes: Faulty degradation of mucopolysaccharide . Proc Nat Acad Sci USA 60:699-706, 1968;.
23 +
Ledeen R, et al:  Structure comparison of the major monosialogangliosides from brains of normal human, gargoylism, and late infantile systemic lipidosis . J Neuropath Exp Neurol 24( (pt 1) ):341-351, 1965;.
24 +
Samuels S, et al:  Studies in Tay-Saehs disease: IV. Membranous cytoplasmic bodies . J Neuropath Exp Neurol 22:81-97, 1963;.
25 +
Samuels S, Gonatas NK, Weiss M:  Formation of the membranous cytoplasmic bodies in Tay-Sachs disease: An in vitro study . J Neuropath Exp Neurol 24:256-264, 1965;.
26 +
MacBrinn MC, et al:  Generalized gangliosidosis: Impaired cleavage of galactose from a mucopolysaccharide and a glycoprotein . Science 163:946-947, 1969;.
27 +
Gerich JE:  Hunter's syndrome: Beta-galactosidase deficiency in skin . New Eng J Med 280:338-343, 1969;.
28 +
MacBrinn M, et al:  Beta-galactosidase deficiency in the Hunter syndrome . New Eng J Med 281:338-343, 1969;.
29 +
Emery JM, Green WR, Wyllie RG: Ocular manifestations and pathology of generalized gangliosidosis. Read before the Wilmer Residents' Association Meeting, Baltimore, 1969.
30 +
Goldberg MF, Maumenee AE, McKusick VA:  Corneal dystrophies associated with abnormalities of mucopolysaccharide metabolism . Arch Ophthal 74:516-520, 1965;.
31 +
Klintworth GK, Vogel FS:  Macular corneal dystrophy: An inherited acid mucopolysaccharide storage disease of the corneal fibroblast . Amer J Path 45:565-586, 1964;.
32 +
Morgan G:  Macular dystrophy of the cornea . Brit J Ophthal 50:57-67, 1966;.
33 +
Offret G, et al:  La structure fine de certaines dystrophies cornéennes . Arch Ophthal 26:171-181, 1966;.
34 +
Teng CC:  Macular dystrophy of the cornea: a histochemical and electron microscopic study . Amer J Ophthal 62:436-454, 1966;.
35 +
Goldman JN, et al:  Structural alterations affecting transparency in swollen human corneas . Invest Ophthal 7:501-519, 1968;.
36 +
Pouliquen Y:  Ultrastructure des greffons lamellaires opaques . Arch Ophtal 27:803-806, 1967;.
37 +
Offret G:  Ultrastructure des greffons transfixiants opaques . Arch Ophtal 27:807-812, 1967;.

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