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December 1990

Color Matching and Foveal Densitometry in Patients and Carriers of an X-linked Progressive Cone Dystrophy

Author Affiliations

From the F. C. Donders Institute of Ophthalmology, State University, Utrecht, the Netherlands (Dr Keunen), the Departments of Ophthalmology (Ms van Everdingen and Dr Oosterhuis) and Human Genetics (Dr Went), State University, Leiden, the Netherlands, and the Institute for Perception TNO, Soesterberg, the Netherlands (Dr van Norren).

Arch Ophthalmol. 1990;108(12):1713-1719. doi:10.1001/archopht.1990.01070140067031

• 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.

Goodman G, Ripps H, Siegel IM.  Cone dysfunction syndromes . Arch Ophthalmol . 1963;70:214-231.Article
Ripps H, Noble KG, Greenstein VC, Siegel IM, Carr RE.  Progressive cone dystrophy . Ophthalmology . 1987;94:1401-1409.Article
Berson EL, Gouras P. Gunkel RD.  Progressive cone degeneration, dominantly inherited . Arch Ophthalmol . 1968;80:77-83.Article
Krill AE, Deutman AF.  Dominant macular degenerations . Am J Ophthalmol . 1972;73:352-369.
Fleischman JA, O'Donnell FE.  Congenital X-linked incomplete achromatopsia . Arch Ophthalmol . 1981;99:468-472.Article
Pinckers A, Timmerman GJMEN.  Sex-difference in progressive cone dystrophy, I . Ophthalmic Paediatr Genet . 1981;1:17-24.Article
Pinckers A, Groothuizen GGC, Timmerman GJMEN, Deutman AF.  Sex-difference in progressive cone dystrophy, II . Ophthalmic Paediatr Genet . 1981;1:25-36.Article
Heckenlively JR, Weleber RG.  X-linked recessive cone dystrophy with tapetal-like sheen . Arch Ophthalmol . 1986;104:1322-1328.Article
Verdoorn C, Pinckers AJLG.  X-linked cone dystrophy . Doc Ophthalmol . 1988;70:195-198.Article
Jacobson DM, Thompson HS, Bartley JA.  X-linked progressive cone dystrophy: clinical characteristics of affected males and female carriers . Ophthalmology . 1989;96:885-895.Article
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.
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.
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.
Noble KG, Siegel IM, Carr RE.  Progressive peripheral cone dysfunction . Am J Ophthalmol . 1988;106:560-577.
van Meel GJ, van Norren D.  Foveal densitometry as a diagnostic technique in Stargardt's disease . Am J Ophthalmol . 1986;102:353-362.
van Norren D, van der Kraats J.  A continuously recording retinal densitometer . Vision Res . 1981;21:897-905.Article
Smith VC, Pokorny J, van Norren D.  Densitometric measurement of human cone photopigment kinetics . Vision Res . 1983;23:517-524.Article
Keunen JEE, van Norren D, van Meel GJ.  Foveal densitometry at older age . Invest Ophthalmol Vis Sci . 1987;28:985-991.
van Norren D, van der Kraats J.  User friendly system for electrodiagnosis . Doc Ophthalmol . 1984;58:251-256.Article
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.
Yanoff M, Fine BS. Ocular Pathology . 1st ed. New York, NY: Harper & Row Publishers Inc; 1975:436.
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.
Smith VC, Pokorny J, Diddie KR.  Color matching and Stiles Crawford effect in central serous choroidopathy . Mod Probl Ophthalmol . 1978;19:284.
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.
Hansen RM, Fulton AB.  Cone pigments in acute posterior multifocal placoid pigment epitheliopathy . Am J Ophthalmol . 1981;91:465-468.
Smith VC, Pokorny J, Ernest JT, Starr SJ.  Visual function in acute posterior multifocal placoid epitheliopathy . Am J Ophthalmol . 1978;85:192-199.
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.Article
van Meel GJ, Smith VC, Pokorny J, van Norren D.  Foveal densitometry in central serous choroidopathy . Am J Ophthalmol . 1984;98:359-368.
Jay B.  X-linked retinal disorders and the Lyon hypothesis . Eye . 1985;104:836-844.
van Meel GJ. Klinische Aspecten van retinale Densitometrie. Zuidam en Zonen, Woerden; 1984:33-39. Thesis.
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.
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.