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Going Forward to Work Backward

Going Forward to Work Backward Abstract In this issue of the Archives, Andersen et al1 describe 4 families with autosomal dominant pigment dispersion syndrome (PDS) affecting a total of 28 of 54 persons. The gene in these families mapped to the telomeric end of the long arm of chromosome 7 (7q35-q36). Not only does this important achievement finally show that this fascinating entity is a true disease in its own right, separate from autosomal dominant juvenile open-angle glaucoma or adult-onset primary (idiopathic) open-angle glaucoma, it also opens the door for the eventual initiation of studies to answer numerous questions that have arisen during the past 2 decades and to verify or discard several features possibly associated with PDS that remain as yet unproved clinical impressions. Although the basic abnormality in this hereditary disorder remains unknown, we are on the verge of a coherent overall explanation of its pathogenesis and pathophysiological features. ESSENTIAL FACTS Pigment dispersion References 1. Andersen JS, Pralea AM, DelBono EA, et al. A gene responsible for the pigment dispersion syndrome maps to chromosome 7q35-q36 . Arch Ophthalmol . 1997;115:384-388.Crossref 2. Alward WLM, Munden PM, Verdick RE, et al. Use of infrared videography to detect and record iris transillumination defects . Arch Ophthalmol . 1990;108:748-751.Crossref 3. Potash SD, Tello C, Liebmann J, Ritch R. Ultrasound biomicroscopy in pigment dispersion syndrome . Ophthalmology . 1994;101:332-339.Crossref 4. Ritch R. A unification hypothesis of pigment dispersion syndrome . Trans Am Ophthalmol Soc . 1996;94:381-409. 5. Pavlin CJ, Harasiewicz K, Foster FS. Posterior iris bowing in pigmentary dispersion syndrome caused by accommodation . Am J Ophthalmol . 1994;118:114-116. 6. Ritch R, Liebmann J, Tello C, Chew SJ. Ultrasound biomicroscopic findings in pigment dispersion syndrome . In: Krieglstein GK, ed. Glaucoma Update V . Heidelberg, Germany: Kaden Verlag; 1995:290-298. 7. Sokol J, Stegman Z, Liebmann JM, Ritch R. Location of the iris insertion in pigment dispersion syndrome . Ophthalmology . 1996;103:289-293.Crossref 8. Liebmann JM, Tello C, Chew S-J, et al. Prevention of blinking alters iris configuration in pigment dispersion syndrome and in normal eyes . Ophthalmology . 1995;102:446-455.Crossref 9. Scheie HG, Fleischhauer HW. Idiopathic atrophy of the epithelial layers of the iris and ciliary body: a clinical study . Arch Ophthalmol . 1958;59:216-228.Crossref 10. Kupfer C, Kuwabara T, Kaiser-Kupfer M. The histopathology of pigmentary dispersion syndrome with glaucoma . Am J Ophthalmol . 1975;80:857-862. 11. Brini A, Porte A, Roth A. Atrophie des couches epitheliales de l'iris: etude d'un cas de glaucome pigmentaire au microscope optique et au microscope electronique . Doc Ophthalmol . 1969;26:403-423.Crossref 12. Rodrigues MM, Spaeth GL, Weinreb S, Sivalingam E. Spectrum of trabecular pigmentation in open-angle glaucoma: a clinicopathologic study . Trans Am Acad Ophthalmol Otolaryngol . 1976;81:258-276. 13. Weseley P, Liebmann J, Walsh JB, Ritch R. Lattice degeneration of the retina and the pigment dispersion syndrome . Am J Ophthalmol . 1992;114:539-543. 14. Karickhoff JR. Reverse pupillary block in pigmentary glaucoma: follow up and new developments . Ophthalmic Surg . 1993;24:562-563. 15. Campbell DG. Iridotomy, blinking and pigmentary glaucoma . Invest Ophthalmol Vis Sci . 1993;34( (suppl) ):993. 16. Campbell DG. Pigmentary dispersion and glaucoma: a new theory . Arch Ophthalmol . 1979;97:1667-1672.Crossref 17. Kampik A, Green WR, Quigley HA, Pierce LH. Scanning and transmission electron microscopic studies of two cases of pigment dispersion syndrome . Am J Ophthalmol . 1981;91:573-587. 18. Campbell DG, Jeffery CP. Pigmentary dispersion in the human eye, SEM . In: Scanning Electron Microscopy . Chicago, III: SEM Inc; 1979:329-334. 19. Fine BS, Yanoff M, Scheie HG. Pigmentary 'glaucoma,' a dysplasia of the iris: a histologic study . Trans Am Acad Ophthalmol Otolaryngol . 1974;78:OP314-OP325. 20. Lotufo D, Ritch R, Sperling M, et al. Pigmentary and primary open-angle glaucoma in young patients . Invest Ophthalmol Vis Sci . 1986;27( (suppl) ):166. 21. Scheie HG, Cameron JD. Pigment dispersion syndrome: a clinical study . Br J Ophthalmol . 1981;65:264-269.Crossref 22. Becker B, Podos SM. Krukenberg's spindles and primary open-angle glaucoma . Arch Ophthalmol . 1966;70:635-639.Crossref 23. Sugar HS. Pigmentary glaucoma: a 25-year review . Am J Ophthalmol . 1966;62:499-507. 24. Migliazzo CV, Shaffer RN, Nykin R, Magee S. Long-term analysis of pigmentary dispersion syndrome and pigmentary glaucoma . Ophthalmology . 1986;93:1528-1536.Crossref 25. Berger A, Ritch R, McDermott J, et al. Pigmentary dispersion, refraction and glaucoma . Invest Ophthalmol Vis Sci . 1987;28( (suppl) ):134. 26. Epstein DL. Pigment dispersion and pigmentary glaucoma . In: Chandler PA, Grant WM, eds. Glaucoma . Philadelphia, Pa: Lea & Febiger; 1979:122-131. 27. Speakman JS. Pigmentary dispersion . Br J Ophthalmol . 1981;65:249-251.Crossref 28. Campbell DG. Improvement of pigmentary glaucoma and healing of transillumination defects with miotic therapy . Invest Ophthalmol Vis Sci . 1983;23 ( (suppl) ):173. 29. Sugar HS, Barbour FA. Pigmentary glaucoma: a rare clinical entity . Am J Ophthalmol . 1949;32:90-92. 30. Ritch R, Steinberger D, Liebmann JM. Prevalence of pigment dispersion syndrome in a population undergoing glaucoma screening . Am J Ophthalmol . 1993;115:707-710. 31. Ueda JT, Lee DA, Christensen RE. A survey of the glaucoma population in the Jules Stein Eye Institute outpatient department . Invest Ophthalmol Vis Sci . 1988;29( (suppl) ):42. 32. Davidson JA, Brubaker RF, llstrup DM. Dimensions of the anterior chamber in pigment dispersion syndrome . Arch Ophthalmol . 1983;101:81-83.Crossref 33. Cameron W. Krukenberg spindle associated with megalocornea and posterior pigmentation of the lens . Am J Ophthalmol . 1941;24:687-689. 34. Sokolic P. Megalocornea: report of a case with the signs of pigmentary glaucoma . Am J Ophthalmol . 1964;58:486-490. 35. Ritch R, Manusow D, Podos SM. Remission of pigmentary glaucoma in a patient with subluxed lenses . Am J Ophthalmol . 1982;94:812-813.Crossref 36. Becker B, Shin DH, Cooper DG, Kass MA. The pigment dispersion syndrome . Am J Ophthalmol . 1977;83:161-166. 37. Rosner M, Belkin M. Intelligence, education, and myopia in males . Arch Ophthalmol . 1987;105:1508-1511.Crossref 38. Becker B, Morton WR. Phenylthiourea taste testing and glaucoma . Arch Ophthalmol . 1964;72:323-327.Crossref 39. Barishak YR. Embryology of the eye and its adnexae . In: Straub W, ed. Developments in Ophthalmology . Basel, Switzerland: Karger; 1992;24:1-142. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Ophthalmology American Medical Association

Going Forward to Work Backward

Archives of Ophthalmology , Volume 115 (3) – Mar 1, 1997

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Publisher
American Medical Association
Copyright
Copyright © 1997 American Medical Association. All Rights Reserved.
ISSN
0003-9950
eISSN
1538-3687
DOI
10.1001/archopht.1997.01100150406015
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Abstract

Abstract In this issue of the Archives, Andersen et al1 describe 4 families with autosomal dominant pigment dispersion syndrome (PDS) affecting a total of 28 of 54 persons. The gene in these families mapped to the telomeric end of the long arm of chromosome 7 (7q35-q36). Not only does this important achievement finally show that this fascinating entity is a true disease in its own right, separate from autosomal dominant juvenile open-angle glaucoma or adult-onset primary (idiopathic) open-angle glaucoma, it also opens the door for the eventual initiation of studies to answer numerous questions that have arisen during the past 2 decades and to verify or discard several features possibly associated with PDS that remain as yet unproved clinical impressions. Although the basic abnormality in this hereditary disorder remains unknown, we are on the verge of a coherent overall explanation of its pathogenesis and pathophysiological features. ESSENTIAL FACTS Pigment dispersion References 1. Andersen JS, Pralea AM, DelBono EA, et al. A gene responsible for the pigment dispersion syndrome maps to chromosome 7q35-q36 . Arch Ophthalmol . 1997;115:384-388.Crossref 2. Alward WLM, Munden PM, Verdick RE, et al. Use of infrared videography to detect and record iris transillumination defects . Arch Ophthalmol . 1990;108:748-751.Crossref 3. Potash SD, Tello C, Liebmann J, Ritch R. Ultrasound biomicroscopy in pigment dispersion syndrome . Ophthalmology . 1994;101:332-339.Crossref 4. Ritch R. A unification hypothesis of pigment dispersion syndrome . Trans Am Ophthalmol Soc . 1996;94:381-409. 5. Pavlin CJ, Harasiewicz K, Foster FS. Posterior iris bowing in pigmentary dispersion syndrome caused by accommodation . Am J Ophthalmol . 1994;118:114-116. 6. Ritch R, Liebmann J, Tello C, Chew SJ. Ultrasound biomicroscopic findings in pigment dispersion syndrome . In: Krieglstein GK, ed. Glaucoma Update V . Heidelberg, Germany: Kaden Verlag; 1995:290-298. 7. Sokol J, Stegman Z, Liebmann JM, Ritch R. Location of the iris insertion in pigment dispersion syndrome . Ophthalmology . 1996;103:289-293.Crossref 8. Liebmann JM, Tello C, Chew S-J, et al. Prevention of blinking alters iris configuration in pigment dispersion syndrome and in normal eyes . Ophthalmology . 1995;102:446-455.Crossref 9. Scheie HG, Fleischhauer HW. Idiopathic atrophy of the epithelial layers of the iris and ciliary body: a clinical study . Arch Ophthalmol . 1958;59:216-228.Crossref 10. Kupfer C, Kuwabara T, Kaiser-Kupfer M. The histopathology of pigmentary dispersion syndrome with glaucoma . Am J Ophthalmol . 1975;80:857-862. 11. Brini A, Porte A, Roth A. Atrophie des couches epitheliales de l'iris: etude d'un cas de glaucome pigmentaire au microscope optique et au microscope electronique . Doc Ophthalmol . 1969;26:403-423.Crossref 12. Rodrigues MM, Spaeth GL, Weinreb S, Sivalingam E. Spectrum of trabecular pigmentation in open-angle glaucoma: a clinicopathologic study . Trans Am Acad Ophthalmol Otolaryngol . 1976;81:258-276. 13. Weseley P, Liebmann J, Walsh JB, Ritch R. Lattice degeneration of the retina and the pigment dispersion syndrome . Am J Ophthalmol . 1992;114:539-543. 14. Karickhoff JR. Reverse pupillary block in pigmentary glaucoma: follow up and new developments . Ophthalmic Surg . 1993;24:562-563. 15. Campbell DG. Iridotomy, blinking and pigmentary glaucoma . Invest Ophthalmol Vis Sci . 1993;34( (suppl) ):993. 16. Campbell DG. Pigmentary dispersion and glaucoma: a new theory . Arch Ophthalmol . 1979;97:1667-1672.Crossref 17. Kampik A, Green WR, Quigley HA, Pierce LH. Scanning and transmission electron microscopic studies of two cases of pigment dispersion syndrome . Am J Ophthalmol . 1981;91:573-587. 18. Campbell DG, Jeffery CP. Pigmentary dispersion in the human eye, SEM . In: Scanning Electron Microscopy . Chicago, III: SEM Inc; 1979:329-334. 19. Fine BS, Yanoff M, Scheie HG. Pigmentary 'glaucoma,' a dysplasia of the iris: a histologic study . Trans Am Acad Ophthalmol Otolaryngol . 1974;78:OP314-OP325. 20. Lotufo D, Ritch R, Sperling M, et al. Pigmentary and primary open-angle glaucoma in young patients . Invest Ophthalmol Vis Sci . 1986;27( (suppl) ):166. 21. Scheie HG, Cameron JD. Pigment dispersion syndrome: a clinical study . Br J Ophthalmol . 1981;65:264-269.Crossref 22. Becker B, Podos SM. Krukenberg's spindles and primary open-angle glaucoma . Arch Ophthalmol . 1966;70:635-639.Crossref 23. Sugar HS. Pigmentary glaucoma: a 25-year review . Am J Ophthalmol . 1966;62:499-507. 24. Migliazzo CV, Shaffer RN, Nykin R, Magee S. Long-term analysis of pigmentary dispersion syndrome and pigmentary glaucoma . Ophthalmology . 1986;93:1528-1536.Crossref 25. Berger A, Ritch R, McDermott J, et al. Pigmentary dispersion, refraction and glaucoma . Invest Ophthalmol Vis Sci . 1987;28( (suppl) ):134. 26. Epstein DL. Pigment dispersion and pigmentary glaucoma . In: Chandler PA, Grant WM, eds. Glaucoma . Philadelphia, Pa: Lea & Febiger; 1979:122-131. 27. Speakman JS. Pigmentary dispersion . Br J Ophthalmol . 1981;65:249-251.Crossref 28. Campbell DG. Improvement of pigmentary glaucoma and healing of transillumination defects with miotic therapy . Invest Ophthalmol Vis Sci . 1983;23 ( (suppl) ):173. 29. Sugar HS, Barbour FA. Pigmentary glaucoma: a rare clinical entity . Am J Ophthalmol . 1949;32:90-92. 30. Ritch R, Steinberger D, Liebmann JM. Prevalence of pigment dispersion syndrome in a population undergoing glaucoma screening . Am J Ophthalmol . 1993;115:707-710. 31. Ueda JT, Lee DA, Christensen RE. A survey of the glaucoma population in the Jules Stein Eye Institute outpatient department . Invest Ophthalmol Vis Sci . 1988;29( (suppl) ):42. 32. Davidson JA, Brubaker RF, llstrup DM. Dimensions of the anterior chamber in pigment dispersion syndrome . Arch Ophthalmol . 1983;101:81-83.Crossref 33. Cameron W. Krukenberg spindle associated with megalocornea and posterior pigmentation of the lens . Am J Ophthalmol . 1941;24:687-689. 34. Sokolic P. Megalocornea: report of a case with the signs of pigmentary glaucoma . Am J Ophthalmol . 1964;58:486-490. 35. Ritch R, Manusow D, Podos SM. Remission of pigmentary glaucoma in a patient with subluxed lenses . Am J Ophthalmol . 1982;94:812-813.Crossref 36. Becker B, Shin DH, Cooper DG, Kass MA. The pigment dispersion syndrome . Am J Ophthalmol . 1977;83:161-166. 37. Rosner M, Belkin M. Intelligence, education, and myopia in males . Arch Ophthalmol . 1987;105:1508-1511.Crossref 38. Becker B, Morton WR. Phenylthiourea taste testing and glaucoma . Arch Ophthalmol . 1964;72:323-327.Crossref 39. Barishak YR. Embryology of the eye and its adnexae . In: Straub W, ed. Developments in Ophthalmology . Basel, Switzerland: Karger; 1992;24:1-142.

Journal

Archives of OphthalmologyAmerican Medical Association

Published: Mar 1, 1997

References