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Show / oumal of 011/ 1"" Nt · lIro- oplll" allllo/~. 1{ 11( 3): 183- 185. 1991. Macular Edema- like Change and Pseudopapilledema in a Case of Scheie Syndrome Tomoaki Usui, M. D., Motohiro Shirakashi, M, D., Mineo Takagi, M. D., Haruki Abe, M. D., and Kazuo Iwata, M. D. <') 1991 Raven Press, Ltd., New York We reported a case of Scheie syndrome in which diffuse fine corneal deposits, pigmentary retinal degeneration, pseudopapilledema, and macular edema- like change were observed bilaterally. This is the first report describing macular change in Scheie syndrome. Key Words: Scheie syndrome- Macular edema- Pseudopapilledema. From the Department of Ophthalmology, Niigata University School of Medicine, Niigata, Japan. . Address correspondence and reprint requests to Dr. Tomoak. Usui at Department of Ophthalmology, Niigata University School of Medicine, 1 Asahimachi, Niigata 951, Japan. 183 In 1962 Scheie et al. ( 1) described a new disease, Scheie syndrome, which was distinguished from Hurler syndrome. In general, clinical features in Scheie syndrome ( MPS- I 5) are less severe than those in Hurler syndrome ( MPS- I H), although activity of the same enzyme ( a- L- iduronidase) is absent in these diseases ( 2). Common clinical features in Scheie syndrome are mild coarse facies, stiff joints, claw hands, aortic insufficiency, deafness, hernia, corneal clouding, and pigmentary retinal degeneration. Patients with this disease have normal intelligence and a relatively normal life span ( 3). In this report, we presented a case of Scheie syndrome in which several ocular findings, especially in the optic disc and macula, were observed. CASE REPORT The female patient was delivered without any complications during pregnancy or parturition. Her parents' marriage was not consanguinous. She suffered from stiff joints and developed night blindness at the age of three. She had no mental retardation. At the age of 15, fundus examination in our eye clinic revealed bilateral pigmentary retinal degeneration. Optic disc and macula showed normal appearance at this time. Since a metabolic disease was suspected, she was admitted to the pediatric clinic in our university hospital. The patient was diagnosed as having Scheie syndrome ( MPS- I S), based on clinical findings of mild coarse facies, pigmentary retinal degeneration, mild deformity of stature, with no mental retardation or hepatosplenomegaly, and biochemical examination findings of increased intraurine mucopolysaccharide ( dermatan sulfate, heparan sulfate), and decreased activity of a- L- iduronidase. The brain 184 T. USUI ET AL. computed tomography scan showed no abnormal findings, such as intracranial and intraorbital mass lesion or optic nerve swelling, except for mild cortical atrophy of the bifrontallobes. The patient underwent lumbar puncture showing opening pressure of 170 mm H 2 0. She has been followed up as an outpatient with no therapy, since her clinical course was stationary. Ophthalmological Findings at the Age of 26 Her corrected visual acuity was slightly decreased ( RV = 20/ 25, LV = 20/ 25). Hyperopia was noted bilaterally ( right eye = + 6.50, left eye = + 6.50). Axial length was 20.5 mm in both eyes. The slit- lamp examination showed bilateral diffuse corneal opacity that was observed dominantly in the posterior portion of the parenchyma, and bilateral punctate cataract. Fundus examination demonstrated bilateral pigmentary degeneration of the retina, pseudopapilledema and macular edema- like change ( Fig. 1). With stereoscopic fundus photography ( Topcon TRC- SS), retinal edemalike changes in the macula and pseudopapilledema were identified more obviously. Although the optic disc was mildly swollen, there was no hemorrhage or venous dilatation in each eye. The macula was edematous bilaterally, like central serous retinopathy. Computerized stereo image analysis [ Topcon IMAGEnet ( 4)] demonstrated the protrusion of the optic disc objectively ( Fig. 2). Fluorescein angiogram showed no dye leakage from the optic disc and macula ( Fig. 3). Autofluorescence was not observed. Ultrasound echogram did not show a high reflectance abnormality representing drusen of the optic nerve head. Goldmann perimeter showed ring scotoma. FIG. 1. Optic fundus ( right eye). Macular edema- like change, pseudopapilledema. and pigmentary retinal degeneration were noted. FIG. 2. Computerized stereo image analysis showed protrusion of optic disc ( right eye). DISCUSSION Several investigators have reported chronic papilledema in mucopolysaccharidosis ( MPS). Winters et al. ( 5) and Stevenson et al. ( 6) noted blurred ( hazy) optic disc in HurlerlScheie compounds. Goldberg and Duke ( 7) demonstrated " bilateral chronic papilledema" in Hunter's syndrome ( MPSII). Also, in the same disease, Kenyon et al. ( 8) described " bilateral blurred disc margins ( without venous congestion, hemorrhages, or exudates) compatible with mild chronic papilledema." Beck and Cole ( 9) reported optic disc edema without raised intracranial pressure in Hunter's syndrome, and they demonstrated the deposition of abnormal mucopolysaccharides within the sclera which produced gross thickening of the sclera with compression of the optic nerve at the intrascleral level. In our case, stereoscopic fundus photographs FIG. 3. Fluorescein angiogram showed no dye leakage from the . optic. disc and macula ( right eye, 100 seconds after inJection). SCHEIE SYNDROME 185 demonstrated marked abnormal change of the optic disc and macula. Edema- like change in the optic disc appeared to be pseudopapilledema since no dye leakage from the optic disc was observed in fluorescein angiography. In general, pseudopapilledema is clinically differentiated from papilledema by its lack of visual field defects, venous and capillary dilatation, exudates and hemorrhages ( 10). Ring scotoma observed in our case might be due to pigmentary retinal degeneration. Pseudopapilledema is frequently observed in hyperopia ( 10). In our case, although shortened axipllength and hyperopia were noted, the edemalike change appeared to be an acquired abnormality since fundus examination at the age of 15 did not show such edema- like change in the optic disc. This change might suggest that the compression of the optic nerve axons was caused by thickening of the sclera and/ or abnormal materials were stored in the glial tissue of the optic disc. Furthermore, stereoscopic photographs showed obvious bilateral edema- like swelling of the macula. To our knowledge, this is the first report of macular change in Scheie syndrome. In a previous histological study of Hurler syndrome, the retinal ganglion cells and pigment epithelium were distended by numerous fibrillogranular inclusions ( 11). Since a- L- iduronidase is absent in Scheie syndrome as well as in Hurler syndrome ( 2), abnormal changes in the macula observed in our case might have been caused by storage or accumulation of abnormal inclusions in the retina. Acknowledgment: The authors thank Drs. Tadashi Asami, Yoshihiro Sasazaki, and Shigeko Watanabe of the Department of Pediatrics, Niigata University School of Medicine, for assistance with the diagnosis. REFERENCES 1. Scheie HG. Hambrick GW Jr, Barness LA. A newly recognized forme furste of Hurler's disease ( gargoylism). Am I Oplrtlralmol1962; 53: 753- 69. 2. Roubiceck M, Gehler J, Spranger J. The clinical spectrum of alpha- L- iduronidase deficiency. Am I Med Gellet 1985; 20: 471- 81. 3. Frangieh GT, Traboulsi EI, Kenyon KR. Mucopolysaccharidoses. In: Gold DH, Weingeist TA, eds. The eye in systemic disease. Philadelphia: JB Lippincott, 1990; 372~. 4. Nanba K, Shirakashi M, Fukuchi T, Iwata K. Stereomorphometry of optic disc cupping with a computer image analyzer IMAGEnet. Ipn I Clin Ophthalmol1989; 43: 535- 8. 5. Winters PR, Harrod Mj. Molenich- Heetred SA, Kirkpatrick J, Rosenberg RN. a- L- iduronidase deficiency and possible Hurler- Scheie genetic compound; clinical, pathologic, and biochemical findings. Neurology 1976; 26: 100~ 7. 6. Stevenson RE, Howell RR, McKusick VA, et al. The iduronidase- deficient mucopolysaccharidoses: clinical and roentgenographic features. Pediatrics 1976; 57: 111- 22. 7. Goldberg MF, Duke JR. Ocular histopathology in Hunter's syndrome; systemic mucopolysaccharidosis type II. Arch Ophtlralmol1967; 77: 50~ 12. 8. Kenyon KR, Quigley HA, Hussels IE, Wyllie RG, Goldberg MF. The systemic mucopolysaccharidoses; ultrastructural and histochemical studies of conjunctiva and skin. Am I OphthalmoI1972; 73: 811- 33. 9. Beck M, Cole G. Disc oedema in association with Hunter's syndrome: ocular histopathological findings. Br I Ophthalmol 1984; 68: 590- 4. 10. Apple OJ, Rabb MF, Walsh PM. Congenital anomalies of the optic disc. Surv Ophthalmol1982 27:~ I. 11. Chan CC, Green WR, Maumenee IH, Sack GH Jr. Ocular ultrastructural studies of two cases of the Hurler syndrome ( systemic mucopolysaccharidosis I- H). OphthalnlOl Paediatr Genet 1983; 2:~ 19. , C/ i" Neuro- ophthalmol, Vol. 11, No. 3, 1991 |
