Literature DB >> 6975710

Two forms of autosomal dominant primary retinitis pigmentosa.

R W Massof, D Finkelstein.   

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 night blindness. 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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Year:  1981        PMID: 6975710     DOI: 10.1007/BF00143336

Source DB:  PubMed          Journal:  Doc Ophthalmol        ISSN: 0012-4486            Impact factor:   2.379


  15 in total

1.  Photopic spectral sensitivity of the peripheral retina.

Authors:  B R Wooten; K Fuld; L Spillmann
Journal:  J Opt Soc Am       Date:  1975-03

2.  Detection of the electroretinogram in retinitis pigmentosa.

Authors:  J C ARMINGTON; P GOURAS; D I TEPAS; R GUNKEL
Journal:  Exp Eye Res       Date:  1961-09       Impact factor: 3.467

3.  Linkage studies of typical retinitis pigmentosa and common markers.

Authors:  I Hussels-Maumenee; E R Pierce; W B Bias; D A Schleutermann
Journal:  Am J Hum Genet       Date:  1975-07       Impact factor: 11.025

Review 4.  Retinitis pigmentosa: a review.

Authors:  A E Krill
Journal:  Sight Sav Rev       Date:  1972

5.  Hereditary aspects of pigmentary retinopathy.

Authors:  B Jay
Journal:  Trans Ophthalmol Soc U K       Date:  1972

6.  Heterochromatic additivity, foveal spectral sensitivity, and a new color model.

Authors:  S L Guth; H R Lodge
Journal:  J Opt Soc Am       Date:  1973-04

7.  Rod sensitivity relative to cone sensitivity in retinitis pigmentosa.

Authors:  R W Massof; D Finkelstein
Journal:  Invest Ophthalmol Vis Sci       Date:  1979-03       Impact factor: 4.799

8.  Vision threshold profiles in sector retinitis pigmentosa.

Authors:  R W Massof; D Finkelstein
Journal:  Arch Ophthalmol       Date:  1979-10

9.  Peripheral absolute threshold spectral sensitivity in retinitis pigmentosa.

Authors:  R W Massof; M A Johnson; D Finkelstein
Journal:  Br J Ophthalmol       Date:  1981-02       Impact factor: 4.638

10.  Sex-linked retinitis pigmentosa: ultrastructure of photoreceptors and pigment epithelium.

Authors:  R B Szamier; E L Berson; R Klein; S Meyers
Journal:  Invest Ophthalmol Vis Sci       Date:  1979-02       Impact factor: 4.799

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  44 in total

1.  Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe.

Authors:  G J Farrar; P Kenna; R Redmond; P McWilliam; D G Bradley; M M Humphries; E M Sharp; C F Inglehearn; R Bashir; M Jay
Journal:  Am J Hum Genet       Date:  1990-12       Impact factor: 11.025

2.  Clinical and genetic heterogeneity in retinitis pigmentosa.

Authors:  J Kaplan; D Bonneau; J Frézal; A Munnich; J L Dufier
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

3.  Ocular findings in patients with autosomal dominant retinitis pigmentosa and Cys110Phe, Arg135Gly, and Gln344stop mutations of rhodopsin.

Authors:  S Kremmer; A Eckstein; A Gal; E Apfelstedt-Sylla; H Wedemann; K Rüther; E Zrenner
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1997-09       Impact factor: 3.117

4.  Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa.

Authors:  A Schuster; N Weisschuh; H Jägle; D Besch; A R Janecke; H Zierler; S Tippmann; E Zrenner; B Wissinger
Journal:  Br J Ophthalmol       Date:  2005-10       Impact factor: 4.638

5.  Clinical and ERG data in a family with autosomal dominant RP and Pro-347-Arg mutation in the rhodopsin gene.

Authors:  G Niemeyer; P Trüb; A Schinzel; A Gal
Journal:  Doc Ophthalmol       Date:  1992       Impact factor: 2.379

6.  Linkage to D3S47 (C17) in one large autosomal dominant retinitis pigmentosa family and exclusion in another: confirmation of genetic heterogeneity.

Authors:  D H Lester; C F Inglehearn; R Bashir; H Ackford; L Esakowitz; M Jay; A C Bird; A F Wright; S S Papiha; S S Bhattacharya
Journal:  Am J Hum Genet       Date:  1990-09       Impact factor: 11.025

7.  Chapter 3 - Restoring Vision to the Blind: Gene Therapy for Vision Loss.

Authors: 
Journal:  Transl Vis Sci Technol       Date:  2014-12-30       Impact factor: 3.283

8.  Properties of electroretinographic intensity-response functions in retinitis pigmentosa.

Authors:  R W Massof; L Wu; D Finkelstein; C Perry; S J Starr; M A Johnson
Journal:  Doc Ophthalmol       Date:  1984-05-30       Impact factor: 2.379

9.  Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations.

Authors:  Tomas S Aleman; Artur V Cideciyan; Alexander Sumaroka; Elizabeth A M Windsor; Waldo Herrera; D Alan White; Shalesh Kaushal; Anjani Naidu; Alejandro J Roman; Sharon B Schwartz; Edwin M Stone; Samuel G Jacobson
Journal:  Invest Ophthalmol Vis Sci       Date:  2008-04       Impact factor: 4.799

10.  Rod or cone dysfunction: uniocular presentations.

Authors:  S G Jacobson; F X Borruat; P P Apathy
Journal:  Doc Ophthalmol       Date:  1986-06-16       Impact factor: 2.379

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