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Spear Gs, Slusser Rj, Tousimis Aj, Taylor Cg, Schulman Jd (1971)
Cystinosis. An ultrastructural and electron-probe study of the kidney with unusual findings.Archives of pathology, 91
Kuwabara T Cogan DG (1956)
Ocular manifestations of systemic cystinosisArch Ophthalmol, 55
Jules François, M. Hanssens, R. Coppieters, L. Evens (1972)
Cystinosis: A Clinical and Histopathologic StudyAmerican Journal of Ophthalmology, 73
J. Schneider, V. Wong, K. Bradley, J. Seegmiller (1968)
Biochemical comparisons of the adult and childhood forms of cystinosis.The New England journal of medicine, 279 23
R. Gunkel (1967)
Retinal profiles. A psychophysical test of rod and cone sensitivity.Archives of ophthalmology, 77 1
D. Cogan, T. Kuwabara (1960)
Ocular Pathology of Cystinosis: With Particular Reference to the Elusiveness of the Corneal CrystalsArchives of Ophthalmology, 63
V. Wong, T. Kuwabara, R. Brubaker, W. Olson, J. Schulman, J. Seegmiller (1970)
Intralysosomal cystine crystals in cystinosis.Investigative ophthalmology, 9 1
J. Schneider, K. Bradley, J. Seegmiller (1967)
Increased Cystine in Leukocytes from Individuals Homozygous and Heterozygous for CystinosisScience, 157
J. Seegmiller, T. Friedmann, H. Harrison, V. Wong, J. Schneider (1968)
Cystinosis: Combined Clinical Staff Conference at the National Institutes of HealthAnnals of Internal Medicine, 68
Garron LK (1959)
CystinosisTrans Am Acad Ophthalmol Otolaryngol, 63
Vernon Wong, Paul Lietman, J. Seegmiller (1967)
Alterations of pigment epithelium in cystinosis.Archives of ophthalmology, 77 3
D. Cogan, T. Kuwabara, J. Kinoshita, D. Sudarsky, H. Ring (1956)
Ocular manifestations of systemic cystinosis.A.M.A. archives of ophthalmology, 55 1
A. Patrick, B. Lake (1968)
Cystinosis: electron microscopic evidence of lysosomal storage of cystine in lymph nodeJournal of Clinical Pathology, 21
J. Schneider, F. Rosenbloom, K. Bradley, J. Seegmiller (1967)
Increased free-cystine content of fibroblasts cultured from patients with cystinosis.Biochemical and biophysical research communications, 29 4
Kenneth Kenyon, J. Sensenbrenner (1974)
Electron microscopy of cornea and conjunctiva in childhood cystinosis.American journal of ophthalmology, 78 1
Joseph Schulman, Wong, Olson Wh, Seegmiller Je (1970)
Lysosomal site of crystalline deposits in cystinosis as shown by ferritin uptake.Archives of pathology, 90 3
J. Schulman, V. Wong, T. Kuwabara, K. Bradley, J. Seegmiller (1970)
Intracellular cystine content of leukocyte populations in cystinosis.Archives of internal medicine, 125 4
Alice Chan, Matthew Lynch, John Bailey, Calvin Ezrin, Donald Fraser (1970)
Hypothyroidism in cystinosis. A clinical, endocrinologic and histologic study involving sixteen patients with cystinosis.The American journal of medicine, 48 6
E. Bürki (1941)
Ueber die Cystinkrankheit im Kleinkindesalter unter besonderer Berücksichtigung des AugenbefundesOphthalmologica, 101
Abstract Maculopathy is reported for the first time in cystinosis. Two siblings were found to show a conspicuous yellow mottling of the macular region by ophthalmoscopy. In addition, there were widespread pigmentary changes in the fundi which have been previously described. Clinically, both patients also had crystalline deposits in the conjunctiva, cornea, and iris. Histopathologic and ultrastructural examination of both eyes from one patient showed degeneration and loss of the retinal pigment epithelial cells. Intracellular crystals were found in the keratocytes, iris epithelium, pigmented and nonpigmented epithelium of the ciliary body, choroid, and retinal pigment epithelium. References 1. Bürki E: Uber die cystinkrankheit im kleinkindesalter unter besonderar berucksichtigung des augenbefundes . Ophthalmologica 101:257-333, 1941.Crossref 2. Garron LK: Cystinosis . Trans Am Acad Ophthalmol Otolaryngol 63:99-108, 1959. 3. Cogan DG, Kuwabara T, Kinoshita J, et al: Ocular manifestations of systemic cystinosis . Arch Ophthalmol 55:36-41, 1956.Crossref 4. Cogan DG, Kuwabara T: Ocular pathology of cystinosis, with particular reference to the elusiveness of corneal crystals . Arch Ophthalmol 63:51-57, 1960.Crossref 5. Wong VG, Leitman PS, Seegmiller JE: Alterations of pigment epithelium in cystinosis . Arch Ophthalmol 77:361-369, 1967.Crossref 6. Francois J, Hanssens M, Coppiters R, et al: Cystinosis, a clinical and histopathologic study . Am J Ophthalmol 73:643-650, 1972. 7. Wong VG, Kuwabara T, Brubaker R, et al: Intralysosomal cystine crystals in cystinosis . Invest Ophthalmol 9:83-88, 1970. 8. Kenyon KR, Sensenbrenner JA: Electron-microscopy of cornea and conjunctiva in childhood cystinosis. Am J Ophthalmol, to be published. 9. Chan AM, Lynch NJG, Bailey JD, et al: Hypothyroidism in cystinosis, a clinical endocrinologic and histologic study involving 16 patients with cystinosis . Am J Med 48:678-692, 1970.Crossref 10. Gunkel RD: Retinal profiles, a psychophysical test of rod and cones sensitivity . Arch Ophthalmol 77:22-25, 1967.Crossref 11. Schneider JA, Bradley K, Seegmiller JE: Increased cystine in leukocytes from individuals homozygous and heterozygous for cystinosis . Science 157:1321-1322, 1967.Crossref 12. Schneider JA, Rosenbloom FN, Bradley KH, et al: Increased free-cystine content of fibroblasts cultured from patients with cystinosis . Biochem Biophys Res Commun 29:527-531, 1967.Crossref 13. Schneider JA, Wong VG, Bradley K, et al: Biochemical comparisons of the adult and childhood forms of cystinosis . N Engl J Med 279:1253-1257, 1968.Crossref 14. Seegmiller JE, Friedman T, Harrison HE, et al: Cystinosis, combined clinical staff conference at the National Institutes of Health . Ann Intern Med 68:883-905, 1968.Crossref 15. Schulman JD, Wong VG, Kuwabara T, et al: Intracellular cystine content in leukocyte populations in cystinosis . Arch Intern Med 125:660-664, 1970.Crossref 16. Patrick AE, Lake BB: Cystinosis, electron-microscopic evidence of lysosomal storage of cystine in lymph node . J Clin Pathol 21:571-575, 1968.Crossref 17. Schulman JD, Wong VG, Olsen WH, et al: Lysosomal site of crystalline deposits in cystinosis as shown by ferritin uptake . Arch Pathol 90:259-264, 1970. 18. Spear GS, Slusser RJ, Tousimis AJ, et al: Cystinosis, ultrastructural and electron probe study of the kidney with unusual findings . Arch Pathol 91:206-221, 1971. 19. Wong VG: The eye in cystinosis , in Schulman JD (ed): Cystinosis . DHEW publication No. (NIH) 72-249, chap 3, pp 23-35.
Archives of Ophthalmology – American Medical Association
Published: Apr 1, 1974
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