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H. Ripps, K. Noble, V. Greenstein, I. Siegel, R. Carr (1987)
Progressive cone dystrophy.Transactions of the American Ophthalmological Society, 85
G. Meel, V. Smith, J. Pokorny, D. Norren (1984)
Foveal densitometry in central serous choroidopathy.American journal of ophthalmology, 98 3
J. Pokorny, V. Smith, J. Ernest (1980)
Macular Color Vision Defects: Specialized Psychophysical Testing in Acquired and Hereditary Chorioretinal DiseasesInternational Ophthalmology Clinics, 20
van Norren D Keunen JEE (1987)
Foveal densitometry at older ageInvest Ophthalmol Vis Sci, 28
Jay B (1985)
X-linked retinal disorders and the Lyon hypothesisEye, 104
Kato H Otha Y (1976)
Modern Problems in Ophthalmology, 17
R. Hansen, A. Fulton (1981)
Cone pigments in acute posterior multifocal placoid pigment epitheliopathy.American journal of ophthalmology, 91 4
B. Jay (1985)
X-linked retinal disorders and the Lyon hypothesis.Transactions of the ophthalmological societies of the United Kingdom, 104 ( Pt 8)
Krill AE (1977)
Krill's Hereditary Retinal and Choroidal Diseases, 2
D. Norren, J. Kraats (1984)
User friendly system for electrodiagnosisDocumenta Ophthalmologica, 58
J. Fleischman, F. O'Donnell (1981)
Congenital X-linked incomplete achromatopsia. Evidence for slow progression, carrier fundus findings, and possible genetic linkage with glucose-6-phosphate dehydrogenase locus.Archives of ophthalmology, 99 3
G. Meel, D. Norren (1986)
Foveal densitometry as a diagnostic technique in Stargardt's disease.American journal of ophthalmology, 102 3
Weleber RG Heckenlively JR (1986)
X-linked recessive cone dystrophy with tapetal-like sheenArch Ophthalmol, 104
V. Smith, J. Pokorny, K. Diddie (1978)
Color matching and Stiles-Crawford effect in central serous choroidopathy.Modern problems in ophthalmology, 19
Deutman AF Krill AE (1972)
Dominant macular degenerationsAm J Ophthalmol, 73
D. Jacobson, H. Thompson, J. Bartley (1989)
X-linked progressive cone dystrophy. Clinical characteristics of affected males and female carriers.Ophthalmology, 96 6
K. Noble, Irwin Siegel, Ronald Carr (1988)
Progressive peripheral cone dysfunction.American journal of ophthalmology, 106 5
Pokorny J Smith VC (1978)
Visual function in acute posterior multifocal placoid epitheliopathyAm J Ophthalmol, 85
E. Berson, P. Gouras, R. Gunkel (1968)
Progressive cone degeneration, dominantly inherited.Archives of ophthalmology, 80 1
J. Keunen, G. Meel, D. Norren, V. Smith, J. Pokorny (1989)
Retinal densitometry in acute posterior multifocal placoid pigment epitheliopathy.Investigative ophthalmology & visual science, 30 7
D. Norren, Jan Kraats (1981)
A continuously recording retinal densitometerVision Research, 21
A. Krill, A. Deutman (1972)
Dominant macular degenerations. The cone dystrophies.American journal of ophthalmology, 73 3
V. Smith, J. Pokorny, D. Norren (1983)
Densitometric measurement of human cone photopigment kineticsVision Research, 23
Elias Reichel, Amanda Bruce, M. Sandberg, E. Berson (1989)
An electroretinographic and molecular genetic study of X-linked cone degeneration.American journal of ophthalmology, 108 5
G. Goodman, H. Ripps, I. Siegel (1963)
CONE DYSFUNCTION SYNDROMES.Archives of ophthalmology, 70
Deutman AF (1971)
The Hereditary Dystrophies of the Posterior Pole of the Eye
V. Smith, J. Pokorny, J. Ernest, Stuart Starr (1978)
Visual function in acute posterior multifocal placoid pigment epitheliopathy.American journal of ophthalmology, 85 2
S. Burns, A. Elsner, L. Lobes, B. Doft (1987)
A psychophysical technique for measuring cone photopigment bleaching.Investigative ophthalmology & visual science, 28 4
J. Heckenlively, R. Weleber (1986)
X-linked recessive cone dystrophy with tapetal-like sheen. A newly recognized entity with Mizuo-Nakamura phenomenon.Archives of ophthalmology, 104 9
C. Verdoorn, A. Pinckers (1988)
X-linked cone dystrophyDocumenta Ophthalmologica, 70
Fine BS Yanoff M (1975)
Ocular Pathology
Eisner A Weleber RG (1988)
Retinal Dystrophies and Degenerations
J. Keunen, D. Norren, G. Meel (1987)
Density of foveal cone pigments at older age.Investigative ophthalmology & visual science, 28 6
A. Pinckers, G. Groothuizen, G. Timmerman, A. Deutman (1981)
Sex-difference in progressive cone dystrophy. I, 1
O'Donnell FE Fleischman JA (1981)
Congenital X-linked incomplete achromatopsiaArch Ophthalmol, 99
Geis C Bartley J (1989)
X-linked progressive cone dystrophy maps between DXS 7(L1.28) and DXS 206 (XJ1.1) and is linked to DXS 84(754)Cytogent Cell Genet, 51
R. Weleber, A. Eisner (1988)
Cone Degeneration (Bull’s Eye Dystrophies) and Color Vision Defects
Abstract • We describe a family with an as yet undescribed form of X-linked progressive cone dystrophy in a five-generation pedigree, from which we report here the results of 17 male patients and 31 obligate and 13 possible female carriers. The affected males showed the characteristic picture of cone dystrophy. Foveal cone photopigment density was impaired (judged from anomaloscope settings and foveal densitometry), even at an early stage of the disease. The carriers showed no fundus abnormalities, except occasional changes due to myopia. The anomaloscope demonstrated mild pseudoprotanomaly in 27 of 31 obligate carriers and in six of 13 possible carriers. Foveal densitometry findings performed in 11 carriers always agreed with the anomaloscope findings. We conclude that the findings of pseudoprotanomaly and abnormal density differences in females of this family were the only ocular abnormalities and thus are indicative of the carrier state. References 1. Goodman G, Ripps H, Siegel IM. Cone dysfunction syndromes . Arch Ophthalmol . 1963;70:214-231.Crossref 2. Ripps H, Noble KG, Greenstein VC, Siegel IM, Carr RE. Progressive cone dystrophy . Ophthalmology . 1987;94:1401-1409.Crossref 3. Berson EL, Gouras P. Gunkel RD. Progressive cone degeneration, dominantly inherited . Arch Ophthalmol . 1968;80:77-83.Crossref 4. Krill AE, Deutman AF. Dominant macular degenerations . Am J Ophthalmol . 1972;73:352-369. 5. Fleischman JA, O'Donnell FE. Congenital X-linked incomplete achromatopsia . Arch Ophthalmol . 1981;99:468-472.Crossref 6. Pinckers A, Timmerman GJMEN. Sex-difference in progressive cone dystrophy, I . Ophthalmic Paediatr Genet . 1981;1:17-24.Crossref 7. Pinckers A, Groothuizen GGC, Timmerman GJMEN, Deutman AF. Sex-difference in progressive cone dystrophy, II . Ophthalmic Paediatr Genet . 1981;1:25-36.Crossref 8. Heckenlively JR, Weleber RG. X-linked recessive cone dystrophy with tapetal-like sheen . Arch Ophthalmol . 1986;104:1322-1328.Crossref 9. Verdoorn C, Pinckers AJLG. X-linked cone dystrophy . Doc Ophthalmol . 1988;70:195-198.Crossref 10. Jacobson DM, Thompson HS, Bartley JA. X-linked progressive cone dystrophy: clinical characteristics of affected males and female carriers . Ophthalmology . 1989;96:885-895.Crossref 11. Reichel E, Bruce AM, Sandberg MA, Berson EL. An electroretinographic and molecular genetic study of X-linked cone degeneration . Am J Ophthalmol . 1989;108:540-547. 12. Weleber RG, Eisner A. Cone degeneration ('bull's-eye dystrophies') and color vision defects . In: Newsome DA, ed. Retinal Dystrophies and Degenerations . New York, NY: Raven Press; 1988:233-256. 13. Krill AE. Cone degenerations . In: Krill AE, Desmond DB, eds. Krill's Hereditary Retinal and Choroidal Diseases . New York, NY: Harper & Row Publishers Inc; 1977;2:421-478. 14. Noble KG, Siegel IM, Carr RE. Progressive peripheral cone dysfunction . Am J Ophthalmol . 1988;106:560-577. 15. van Meel GJ, van Norren D. Foveal densitometry as a diagnostic technique in Stargardt's disease . Am J Ophthalmol . 1986;102:353-362. 16. van Norren D, van der Kraats J. A continuously recording retinal densitometer . Vision Res . 1981;21:897-905.Crossref 17. Smith VC, Pokorny J, van Norren D. Densitometric measurement of human cone photopigment kinetics . Vision Res . 1983;23:517-524.Crossref 18. Keunen JEE, van Norren D, van Meel GJ. Foveal densitometry at older age . Invest Ophthalmol Vis Sci . 1987;28:985-991. 19. van Norren D, van der Kraats J. User friendly system for electrodiagnosis . Doc Ophthalmol . 1984;58:251-256.Crossref 20. Deutman AF. Progressive cone dystrophy . In: Deutman AF, ed. The Hereditary Dystrophies of the Posterior Pole of the Eye . Assen, the Netherlands: van Gorcum; 1971:181-188. 21. Yanoff M, Fine BS. Ocular Pathology . 1st ed. New York, NY: Harper & Row Publishers Inc; 1975:436. 22. Keunen JEE, van Meel GJ, van Norren D, Smith VC, Pokorny J. Retinal densitometry in acute posterior multifocal placoid pigment epitheliopathy . Invest Ophthalmol Vis Sci . 1989;30:1515-1521. 23. Smith VC, Pokorny J, Diddie KR. Color matching and Stiles Crawford effect in central serous choroidopathy . Mod Probl Ophthalmol . 1978;19:284. 24. Burns SA, Elsner AE, Lobbes LA Jr, Doft BH. A psychophysical technique for measuring cone photopigment bleaching . Invest Ophthalmol Vis Sci . 1987;28:711-717. 25. Hansen RM, Fulton AB. Cone pigments in acute posterior multifocal placoid pigment epitheliopathy . Am J Ophthalmol . 1981;91:465-468. 26. Smith VC, Pokorny J, Ernest JT, Starr SJ. Visual function in acute posterior multifocal placoid epitheliopathy . Am J Ophthalmol . 1978;85:192-199. 27. Pokorny J, Smith VC, Ernest JT. Macular color vision defects: specialized psychophysical testing in acquired and hereditary chorioretinal diseases . Int Ophthalmol Clin . 1980;20:53.Crossref 28. van Meel GJ, Smith VC, Pokorny J, van Norren D. Foveal densitometry in central serous choroidopathy . Am J Ophthalmol . 1984;98:359-368. 29. Jay B. X-linked retinal disorders and the Lyon hypothesis . Eye . 1985;104:836-844. 30. van Meel GJ. Klinische Aspecten van retinale Densitometrie. Zuidam en Zonen, Woerden; 1984:33-39. Thesis. 31. Otha Y, Kato H. Colour perception changes with age . In: Verriest G, Streiff EB, eds. Modern Problems in Ophthalmology . New York, NY: S Karger AG; 1976;17:345-352. 32. Bartley J, Geis C, Jacobson D. X-linked progressive cone dystrophy maps between DXS 7(L1.28) and DXS 206 (XJ1.1) and is linked to DXS 84(754) . Cytogent Cell Genet . 1989;51:959.
Archives of Ophthalmology – American Medical Association
Published: Dec 1, 1990
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