Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 14-Day Trial for You or Your Team.

Learn More →

Histopathology of Best's Macular Dystrophy

Histopathology of Best's Macular Dystrophy Abstract • The pathogenesis of Best's macular dystrophy (BMD) is poorly understood. Previous histopathologic descriptions of BMD have been published in the literature; however, all were from elderly persons who clinically exhibited late manifestations of the disease. In this article, light and electron microscopic observations of an earlier stage of BMD are reported. Both globes were from a 28-year-old patient who had a "scrambled egg" lesion in the macula with some features of a pseudohypopyon. Our studies indicate that BMD is a generalized retinal pigment epithelial (RPE) abnormality that results in an abnormal accumulation of lipofuscin granules. Lipopigment accumulates within the RPE, within macrophages in the subretinal space, and within the choroid. These observations help to explain the clinical appearance as well as the fluorescein angiographic and electrophysiologic findings of this condition. References 1. Barkman Y: A clinical study of a central tapetoretinal degeneration . Acta Ophthalmol 1961;39:663-671.Crossref 2. Braley AE, Spivey BE: Hereditary vitelline macular degeneration: A clinical and functional evaluation of a new pedigree with variable expressivity and dominant inheritance . Arch Ophthalmol 1964;72:743-762.Crossref 3. Deutman AF: Vitelliform dystrophy of the fovea , in The Hereditary Dystrophies of the Posterior Pole of the Eye . Assen, the Netherlands, Van Gorcum & Co BV, 1971, chap 7. 4. Bard LA, Cross HE: Genetic counseling of families with Best macular dystrophy . Trans Am Acad Ophthalmol Otolaryngol 1975;79:865-873. 5. Barricks ME: Vitelliform lesions developing in normal fundi . Am J Ophthalmol 1977;83:324-327. 6. Benson WE, Kolker AE, Enoch JM, et al: Best's vitelliform macular dystrophy . Am J Ophthalmol 1975;79:59-66. 7. Miller SA, Bresnick GH, Chandra SR: Choroidal neovascular membrane in Best's vitelliform macular dystrophy . Am J Ophthalmol 1976;82:252-255. 8. Maloney WF, Robertson DM, Duboff SM: Hereditary vitelliform macular degeneration: Variable fundus findings within a single pedigree . Arch Ophthalmol 1977;95:979-983.Crossref 9. McFarland CB: Heredodegeneration of the macula lutea: A study of the clinical and pathologic aspects . Arch Ophthalmol 1955;53:224-228.Crossref 10. Andersen SR: Ocular pathology in hereditary (vitelliform) macular degeneration. Read in part before the European Ophthalmic Pathology Society meeting, Ghent, Belgium, May 28, 1970. 11. Feeney-Burns L, Berman ER, Rothman H: Lipofuscin of human retinal pigment epithelium . Am J Ophthalmol 1980;90:783-791. 12. Young RW, Bok D: Participation of the retinal pigment epithelium in the rod outer segment renewal process . J Cell Biol 1969;42:392-403.Crossref 13. Feeney L: Lipofuscin and melanin of human retinal pigment epithelium: Fluorescence, enzyme cytochemical, and ultrastructural studies . Invest Ophthalmol Vis Sci 1978;17:583-600. 14. Font RL, Zimmerman LE, Armaly MF: The nature of the orange pigment over a choroidal melanoma: Histochemical and electron microscopical observations . Arch Ophthalmol 1974;91:359-362.Crossref 15. Shields JA, Rodrigues MM, Sarin LK, et al: Lipofuscin pigment over benign and malignant choroidal tumors . Trans Am Acad Ophthalmol Otolaryngol 1976;81:OP-871-OP-881. 16. Eagle RC Jr, Lucier AC, Bernardino VB, et al: Retinal pigment epithelial abnormalities in fundus flavimaculatus: A light and electron microscopic study . Ophthalmology 1980;87:1189-1200.Crossref 17. Miller SA: Fluorescence in Best's vitelliform dystrophy, lipofuscin, and fundus flavimaculatus . Br J Ophthalmol 1978;62:256-260.Crossref 18. Curry HF Jr, Moorman LT: Fluorescein photography of vitelliform macular degeneration . Arch Ophthalmol 1968;79:705-709.Crossref 19. Klien BA: The heredodegeneration of the macula lutea . Am J Ophthalmol 1950;33:371-379. 20. Massof RW, Fleischman JA, Fine SL, et al: Flicker fusion thresholds in Best macular dystrophy . Arch Ophthalmol 1977;95:991-994.Crossref 21. François J, De Rouck A, Fernandez-Sasso D: Electro-oculography in vitelliform degeneration of the macula . Arch Ophthalmol 1967;77:726-733.Crossref 22. Cross HE, Bard L: Electro-oculography in Best's macular dystrophy . Am J Ophthalmol 1974;77:46-50. 23. Krill AE, Morse PA, Potts AM, et al: Hereditary vitelliruptive macular degeneration . Am J Ophthalmol 1966;61:1405-1415. 24. Brink J: A family with vitelliform macular dystrophy . Acta Ophthalmol 1974;52:609-623.Crossref 25. Braley AE: Dystrophy of the macula . Am J Ophthalmol 1966;61:1-24. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Ophthalmology American Medical Association

Histopathology of Best's Macular Dystrophy

Loading next page...
 
/lp/american-medical-association/histopathology-of-best-s-macular-dystrophy-fqK0L00ine
Publisher
American Medical Association
Copyright
Copyright © 1982 American Medical Association. All Rights Reserved.
ISSN
0003-9950
eISSN
1538-3687
DOI
10.1001/archopht.1982.01030040086016
Publisher site
See Article on Publisher Site

Abstract

Abstract • The pathogenesis of Best's macular dystrophy (BMD) is poorly understood. Previous histopathologic descriptions of BMD have been published in the literature; however, all were from elderly persons who clinically exhibited late manifestations of the disease. In this article, light and electron microscopic observations of an earlier stage of BMD are reported. Both globes were from a 28-year-old patient who had a "scrambled egg" lesion in the macula with some features of a pseudohypopyon. Our studies indicate that BMD is a generalized retinal pigment epithelial (RPE) abnormality that results in an abnormal accumulation of lipofuscin granules. Lipopigment accumulates within the RPE, within macrophages in the subretinal space, and within the choroid. These observations help to explain the clinical appearance as well as the fluorescein angiographic and electrophysiologic findings of this condition. References 1. Barkman Y: A clinical study of a central tapetoretinal degeneration . Acta Ophthalmol 1961;39:663-671.Crossref 2. Braley AE, Spivey BE: Hereditary vitelline macular degeneration: A clinical and functional evaluation of a new pedigree with variable expressivity and dominant inheritance . Arch Ophthalmol 1964;72:743-762.Crossref 3. Deutman AF: Vitelliform dystrophy of the fovea , in The Hereditary Dystrophies of the Posterior Pole of the Eye . Assen, the Netherlands, Van Gorcum & Co BV, 1971, chap 7. 4. Bard LA, Cross HE: Genetic counseling of families with Best macular dystrophy . Trans Am Acad Ophthalmol Otolaryngol 1975;79:865-873. 5. Barricks ME: Vitelliform lesions developing in normal fundi . Am J Ophthalmol 1977;83:324-327. 6. Benson WE, Kolker AE, Enoch JM, et al: Best's vitelliform macular dystrophy . Am J Ophthalmol 1975;79:59-66. 7. Miller SA, Bresnick GH, Chandra SR: Choroidal neovascular membrane in Best's vitelliform macular dystrophy . Am J Ophthalmol 1976;82:252-255. 8. Maloney WF, Robertson DM, Duboff SM: Hereditary vitelliform macular degeneration: Variable fundus findings within a single pedigree . Arch Ophthalmol 1977;95:979-983.Crossref 9. McFarland CB: Heredodegeneration of the macula lutea: A study of the clinical and pathologic aspects . Arch Ophthalmol 1955;53:224-228.Crossref 10. Andersen SR: Ocular pathology in hereditary (vitelliform) macular degeneration. Read in part before the European Ophthalmic Pathology Society meeting, Ghent, Belgium, May 28, 1970. 11. Feeney-Burns L, Berman ER, Rothman H: Lipofuscin of human retinal pigment epithelium . Am J Ophthalmol 1980;90:783-791. 12. Young RW, Bok D: Participation of the retinal pigment epithelium in the rod outer segment renewal process . J Cell Biol 1969;42:392-403.Crossref 13. Feeney L: Lipofuscin and melanin of human retinal pigment epithelium: Fluorescence, enzyme cytochemical, and ultrastructural studies . Invest Ophthalmol Vis Sci 1978;17:583-600. 14. Font RL, Zimmerman LE, Armaly MF: The nature of the orange pigment over a choroidal melanoma: Histochemical and electron microscopical observations . Arch Ophthalmol 1974;91:359-362.Crossref 15. Shields JA, Rodrigues MM, Sarin LK, et al: Lipofuscin pigment over benign and malignant choroidal tumors . Trans Am Acad Ophthalmol Otolaryngol 1976;81:OP-871-OP-881. 16. Eagle RC Jr, Lucier AC, Bernardino VB, et al: Retinal pigment epithelial abnormalities in fundus flavimaculatus: A light and electron microscopic study . Ophthalmology 1980;87:1189-1200.Crossref 17. Miller SA: Fluorescence in Best's vitelliform dystrophy, lipofuscin, and fundus flavimaculatus . Br J Ophthalmol 1978;62:256-260.Crossref 18. Curry HF Jr, Moorman LT: Fluorescein photography of vitelliform macular degeneration . Arch Ophthalmol 1968;79:705-709.Crossref 19. Klien BA: The heredodegeneration of the macula lutea . Am J Ophthalmol 1950;33:371-379. 20. Massof RW, Fleischman JA, Fine SL, et al: Flicker fusion thresholds in Best macular dystrophy . Arch Ophthalmol 1977;95:991-994.Crossref 21. François J, De Rouck A, Fernandez-Sasso D: Electro-oculography in vitelliform degeneration of the macula . Arch Ophthalmol 1967;77:726-733.Crossref 22. Cross HE, Bard L: Electro-oculography in Best's macular dystrophy . Am J Ophthalmol 1974;77:46-50. 23. Krill AE, Morse PA, Potts AM, et al: Hereditary vitelliruptive macular degeneration . Am J Ophthalmol 1966;61:1405-1415. 24. Brink J: A family with vitelliform macular dystrophy . Acta Ophthalmol 1974;52:609-623.Crossref 25. Braley AE: Dystrophy of the macula . Am J Ophthalmol 1966;61:1-24.

Journal

Archives of OphthalmologyAmerican Medical Association

Published: Jul 1, 1982

References