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Two forms of autosomal dominant primary retinitis pigmentosa

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Abstract

Two types of autosomal dominant retinitis pigmentosa (RP) are identified on the basis of perimetric measures of rod sensitivity relative to cone sensitivity. Type 1 dominant RP patients are characterized by an early diffuse loss of rod sensitivity with a later loss of cone sensitivity and by childhood onset of nightblindness. Type 2 dominant RP patients are characterized by a regionalized and combined loss of rod and cone sensitivity with adulthood onset of nightblindness. Comparisons of losses in the photopic and scotopic electroretinogram amplitudes corroborate the psychophysical results. Clinical findings are similar for the two dominant RP subtypes, however, there are differences in natural history.

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References

  • Armington JC, Gouras P, Tepas DI and Gunkel R (1961) Detection of the electroretinogram in retinitis pigmentosa. Exp Eye Res 1: 74–80

    Google Scholar 

  • Berson EL, Gouras P and Gunkel RD (1968) Rod responses in retinitis pigmentosa, dominantly inherited. Arch Ophthal 80: 58–67

    Google Scholar 

  • Berson EL, Gouras P, Gunkel RD and Myrianthopoulos NC (1969) Dominant retinitis pigmentosa with reduced penetrance. Arch Ophthal 81: 226–234

    Google Scholar 

  • Fitzke FW and Massof RW (1980) Absolute cone thresholds derived from the Ferry-Porter law. Invest Ophthal Vis Sci Suppl: 212

  • Guth SL and Lodge HR (1973) Heterochromatic additivity, foveal spectral sensitivity, and a new color model. J Opt Soc Amer 63: 450–462

    Google Scholar 

  • Hussels-Maumenee I, Pierce ER, Bias WB and Schleutermann DA (1975) Linkage studies of typical retinitis pigmentosa and common markers. Amer J Hum Genet 27: 505–508

    Google Scholar 

  • Jay B (1972) Hereditary aspects of pigmentary retinopathy. Trans Ophthal Soc UK 92: 173–178

    Google Scholar 

  • Johnson MA & Massof RW (1980) The photo chromatic interval in the peripheral retina. Recent Advances in Vision Tech Digest. Optical Society of America, Washington.

    Google Scholar 

  • Krill AE (1972) Retinitis pigmentosa: a review. Sightsav Rev 42: 21–28

    Google Scholar 

  • Marmor MF (1979) The electroretinogram in retinitis pigmentosa. Arch Ophthal 97: 1300–1304

    Google Scholar 

  • Massof RW and Finkelstein D (1979a) Rod sensitivity relative to cone sensitivity in retinitis pigmentosa. Invest Ophth Vis Sci 18: 263–272

    Google Scholar 

  • Massof RW and Finkelstein D (1979b) Vision threshold profiles in sector retinitis pigmentosa. Arch Ophthal 97: 1899–1904

    Google Scholar 

  • Massof RW and Finkelstein D (1981) Subclassifications of retinitis pigmentosa from two-color scotopic static perimetry. Docum Ophthal Proc Ser 26: 219–225

    Google Scholar 

  • Massof RW, Johnson MA and Finkelstein D (1981) Peripheral absolute threshold spectral sensitivity in retinitis pigmentosa. Brit J Ophthal 65: 112–121

    Google Scholar 

  • Palmer RW, Massof RW and Finkelstein D (1980) Heterogeneity within subgroups of retinitis pigmentosa. Invest Ophthal Vis Sci Suppl: 90

  • Stabell U and Stabell B (1981) Spectral sensitivity of the dark-adapted extrafoveal retina at photopic intensities. J Opt Soc Amer 71: 841–844

    Google Scholar 

  • Starr SJ (1980) Rod sensitivity relative to cone sensitivity in retinal vascular disease. Invest Ophthal Vis Sci Suppl: 78

  • Szamier RB, Berson EL, Klein R and Meyers S (1979) Sex-linked retinitis pigmentosa: ultrastructure of photoreceptors in pigment epithelium. Invest Ophthal Vis Sci 18: 145–160

    Google Scholar 

  • Wooten BR, Fuld K and Spillmann L (1975) Photopic spectral sensitivity of the peripheral retina. J Opt Soc Amer 65: 334–342

    Google Scholar 

  • Zeavin BH & Wald G (1956) Rod and cone vision in retinitis pigmentosa. Amer J Ophthal 42: 253–269

    Google Scholar 

Download references

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Supported by research grants from the U.S. Public Health Service, National Institutes of Health (EY-01791) and the National Retinitis Pigmentosa Foundation.

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Massof, R.W., Finkelstein, D. Two forms of autosomal dominant primary retinitis pigmentosa. Doc Ophthalmol 51, 289–346 (1981). https://doi.org/10.1007/BF00143336

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