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Human Albinism: Light and Electron Microscopy Study

Human Albinism: Light and Electron Microscopy Study Abstract • The eyes of a 13-year-old leukemic boy with the attributes of tyrosinase-negative oculocutaneous albinism were obtained for light and electron microscopic study. Repeated examinations had failed to reveal WBCs with giant oxidase-positive granules, and leukemic involvement of the fundus never occurred. Light microscopic examination of horizontal and vertical sections through the retina confirms earlier reports that the fovea is absent in albinos. The synaptic apparatus of the photoreceptor terminals appears abnormal. The rough endoplasmic reticulum of the retinal pigment epithelial cells is sparse though the presence of phagosomes suggests that phagocytic function is intact. Suggestions as to the importance that the morphological findings may have on albino visual function are made. References 1. Sheridan CL: Interocular transfer of brightness and pattern discrimination in normal and corpus callosum-sectioned rats . J Comp Physiol Psychol 59:292-294, 1965.Crossref 2. Kalil RE, Jhaveri SR, Richards W: Anomalous retinal pathways in the Siamese cat: An inadequate substrate for normal binocular vision . Science 174:302-305, 1971.Crossref 3. Guillery RW, Kaas JH: Genetic abnormality of the visual pathways in a "white tiger." Science 180:1287-1289, 1973.Crossref 4. Creel D, Witkop CJ, King RA: Asymmetric visually evoked potentials in human albinos: Evidence for visual system anomalies . Invest Ophthalmol 13:430-440, 1974. 5. Coleman JR, Sydnor CF, Bessler M, et al: Analysis of abnormal visual pathways in human albinos using visual evoked potentials. Presented at the Association for Research in Vision and Ophthalmology, Sarasota, Fla, April 27, 1976. 6. Guillery RW, Okoro AN, Witkop CJ: Abnormal visual pathways in the brain of a human albino . Brain Res 96:373-377, 1975.Crossref 7. Witkop CJ, King RA, Creel D: The abnormal albino animal: Evidence for optic tract drug metabolism abnormalities in albino animals and man , in: Ninth International Pigment Cell Conference (Proceedings) Houston , Texas, Jan 13-17, 1975, pp 67-68. 8. Elschnig A: Zur Anatomie des Menschlichen Albinoauges B . Graefes Arch Ophthalmol 84:401-418, 1913.Crossref 9. O'Donnell FE, Hambrick GW Jr, Green WR, et al: X-linked ocular albinism: An oculocutaneous macromelanosomal disorder . Arch Ophthalmol 94:1883-1892, 1976.Crossref 10. Naumann GOH, Lerche W, Schroeder W: Foveola Aplasie bei Tyrosinase positivem oculocutanen Albinismus . Graefes Archiv 200:39-50, 1976.Crossref 11. Mandelbaum J, Sloan LL: Peripheral visual acuity . Am J Ophthalmol 30:581-588, 1947. 12. Newman M: Visual acuity , in Moses RA (ed): Adler's Physiology of the Eye , ed 6. St Louis, CV Mosby Co Publishers, 1975, p 519. 13. Fitzpatrick TB, Quevedo WC: Albinism , in Stanbury JB, Wyngaarden JB, Fredrickson, DS (eds): The Metabolic Basis of Inherited Disease , ed 3. New York, McGraw-Hill Book Co Inc, 1972, pp 326-337. 14. Nance WE, Witkop CJ, Rawls RF: Autosomal recessive albinism in man: Evidence for genetic heterogeneity . Clin Res 17:68, 1969. 15. Miller WH, Snyder AW: Deep fovea of birds functions as telephoto lens. Presented at the Association for Research in Vision and Ophthalmology, Sarasota, Fla, April 28, 1977. 16. Ladman AJ: The fine structure of the rodbipolar cell synapse in the retina of the albino rat . J Biophys Biochem Cytol 4:459-465, 1958.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Ophthalmology American Medical Association

Human Albinism: Light and Electron Microscopy Study

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Publisher
American Medical Association
Copyright
Copyright © 1978 American Medical Association. All Rights Reserved.
ISSN
0003-9950
eISSN
1538-3687
DOI
10.1001/archopht.1978.03910050173014
Publisher site
See Article on Publisher Site

Abstract

Abstract • The eyes of a 13-year-old leukemic boy with the attributes of tyrosinase-negative oculocutaneous albinism were obtained for light and electron microscopic study. Repeated examinations had failed to reveal WBCs with giant oxidase-positive granules, and leukemic involvement of the fundus never occurred. Light microscopic examination of horizontal and vertical sections through the retina confirms earlier reports that the fovea is absent in albinos. The synaptic apparatus of the photoreceptor terminals appears abnormal. The rough endoplasmic reticulum of the retinal pigment epithelial cells is sparse though the presence of phagosomes suggests that phagocytic function is intact. Suggestions as to the importance that the morphological findings may have on albino visual function are made. References 1. Sheridan CL: Interocular transfer of brightness and pattern discrimination in normal and corpus callosum-sectioned rats . J Comp Physiol Psychol 59:292-294, 1965.Crossref 2. Kalil RE, Jhaveri SR, Richards W: Anomalous retinal pathways in the Siamese cat: An inadequate substrate for normal binocular vision . Science 174:302-305, 1971.Crossref 3. Guillery RW, Kaas JH: Genetic abnormality of the visual pathways in a "white tiger." Science 180:1287-1289, 1973.Crossref 4. Creel D, Witkop CJ, King RA: Asymmetric visually evoked potentials in human albinos: Evidence for visual system anomalies . Invest Ophthalmol 13:430-440, 1974. 5. Coleman JR, Sydnor CF, Bessler M, et al: Analysis of abnormal visual pathways in human albinos using visual evoked potentials. Presented at the Association for Research in Vision and Ophthalmology, Sarasota, Fla, April 27, 1976. 6. Guillery RW, Okoro AN, Witkop CJ: Abnormal visual pathways in the brain of a human albino . Brain Res 96:373-377, 1975.Crossref 7. Witkop CJ, King RA, Creel D: The abnormal albino animal: Evidence for optic tract drug metabolism abnormalities in albino animals and man , in: Ninth International Pigment Cell Conference (Proceedings) Houston , Texas, Jan 13-17, 1975, pp 67-68. 8. Elschnig A: Zur Anatomie des Menschlichen Albinoauges B . Graefes Arch Ophthalmol 84:401-418, 1913.Crossref 9. O'Donnell FE, Hambrick GW Jr, Green WR, et al: X-linked ocular albinism: An oculocutaneous macromelanosomal disorder . Arch Ophthalmol 94:1883-1892, 1976.Crossref 10. Naumann GOH, Lerche W, Schroeder W: Foveola Aplasie bei Tyrosinase positivem oculocutanen Albinismus . Graefes Archiv 200:39-50, 1976.Crossref 11. Mandelbaum J, Sloan LL: Peripheral visual acuity . Am J Ophthalmol 30:581-588, 1947. 12. Newman M: Visual acuity , in Moses RA (ed): Adler's Physiology of the Eye , ed 6. St Louis, CV Mosby Co Publishers, 1975, p 519. 13. Fitzpatrick TB, Quevedo WC: Albinism , in Stanbury JB, Wyngaarden JB, Fredrickson, DS (eds): The Metabolic Basis of Inherited Disease , ed 3. New York, McGraw-Hill Book Co Inc, 1972, pp 326-337. 14. Nance WE, Witkop CJ, Rawls RF: Autosomal recessive albinism in man: Evidence for genetic heterogeneity . Clin Res 17:68, 1969. 15. Miller WH, Snyder AW: Deep fovea of birds functions as telephoto lens. Presented at the Association for Research in Vision and Ophthalmology, Sarasota, Fla, April 28, 1977. 16. Ladman AJ: The fine structure of the rodbipolar cell synapse in the retina of the albino rat . J Biophys Biochem Cytol 4:459-465, 1958.Crossref

Journal

Archives of OphthalmologyAmerican Medical Association

Published: Feb 1, 1978

References

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