Literature DB >> 2737262

Interocular asymmetry of visual function in heterozygotes of X-linked retinitis pigmentosa.

S G Jacobson1, K Yagasaki, W J Feuer, A J Román.   

Abstract

Heterozygotes of X-linked retinitis pigmentosa were studied with full field rod and cone electroretinography and light adapted kinetic perimetry. Twelve parameters from the electroretinograms (ERGs) and two parameters from the kinetic visual fields of both eyes of 22 heterozygotes were measured and statistical comparisons made with results from female control subjects. Rod and cone ERG amplitude parameters were significantly lower and cone timing delayed in the heterozygotes. Most of the ERG parameters that were abnormal in measured value also showed significantly greater interocular differences compared with controls. Kinetic visual fields with both V-4e and I-4e test targets were smaller in heterozygotes than in controls. Only with the I-4e target, however, were interocular differences significantly larger in the heterozygotes. For the I-4e target and many of the ERG parameters, using the interocular difference in conjunction with the measured parameter value from a single eye significantly increased the efficacy of discrimination between heterozygotes and controls; for some ERG parameters, the interocular difference alone provided the best separation of the two groups.

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Year:  1989        PMID: 2737262     DOI: 10.1016/0014-4835(89)90009-2

Source DB:  PubMed          Journal:  Exp Eye Res        ISSN: 0014-4835            Impact factor:   3.467


  37 in total

1.  Gene therapy for retinitis pigmentosa caused by MFRP mutations: human phenotype and preliminary proof of concept.

Authors:  Astra Dinculescu; Jackie Estreicher; Juan C Zenteno; Tomas S Aleman; Sharon B Schwartz; Wei Chieh Huang; Alejandro J Roman; Alexander Sumaroka; Qiuhong Li; Wen-Tao Deng; Seok-Hong Min; Vince A Chiodo; Andy Neeley; Xuan Liu; Xinhua Shu; Margarita Matias-Florentino; Beatriz Buentello-Volante; Sanford L Boye; Artur V Cideciyan; William W Hauswirth; Samuel G Jacobson
Journal:  Hum Gene Ther       Date:  2012-01-26       Impact factor: 5.695

2.  Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model.

Authors:  Tomas S Aleman; Artur V Cideciyan; Geoffrey K Aguirre; Wei Chieh Huang; Cristina L Mullins; Alejandro J Roman; Alexander Sumaroka; Melani B Olivares; Frank F Tsai; Sharon B Schwartz; Luk H Vandenberghe; Maria P Limberis; Edwin M Stone; Peter Bell; James M Wilson; Samuel G Jacobson
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-08-29       Impact factor: 4.799

3.  A G86R mutation in the calcium-sensor protein GCAP1 alters regulation of retinal guanylyl cyclase and causes dominant cone-rod degeneration.

Authors:  Igor V Peshenko; Artur V Cideciyan; Alexander Sumaroka; Elena V Olshevskaya; Alexander Scholten; Seher Abbas; Karl-Wilhelm Koch; Samuel G Jacobson; Alexander M Dizhoor
Journal:  J Biol Chem       Date:  2019-01-08       Impact factor: 5.157

4.  Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics.

Authors:  Artur V Cideciyan; Tomas S Aleman; Sanford L Boye; Sharon B Schwartz; Shalesh Kaushal; Alejandro J Roman; Ji-Jing Pang; Alexander Sumaroka; Elizabeth A M Windsor; James M Wilson; Terence R Flotte; Gerald A Fishman; Elise Heon; Edwin M Stone; Barry J Byrne; Samuel G Jacobson; William W Hauswirth
Journal:  Proc Natl Acad Sci U S A       Date:  2008-09-22       Impact factor: 11.205

5.  Bilateral Concordance of the Fundus Hyperautofluorescent Ring in Typical Retinitis Pigmentosa Patients.

Authors:  Tharikarn Sujirakul; Richard Davis; Deniz Erol; Lijuan Zhang; Giuseppe Schillizzi; Leticia Royo-Dujardin; Sherry Shen; Stephen Tsang
Journal:  Ophthalmic Genet       Date:  2013-10-10       Impact factor: 1.803

6.  Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants.

Authors:  Samuel G Jacobson; Artur V Cideciyan; Igor V Peshenko; Alexander Sumaroka; Elena V Olshevskaya; Lihui Cao; Sharon B Schwartz; Alejandro J Roman; Melani B Olivares; Sam Sadigh; King-Wai Yau; Elise Heon; Edwin M Stone; Alexander M Dizhoor
Journal:  Hum Mol Genet       Date:  2012-10-03       Impact factor: 6.150

7.  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

8.  Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.

Authors:  Christina Zeitz; Samuel G Jacobson; Christian P Hamel; Kinga Bujakowska; Marion Neuillé; Elise Orhan; Xavier Zanlonghi; Marie-Elise Lancelot; Christelle Michiels; Sharon B Schwartz; Béatrice Bocquet; Aline Antonio; Claire Audier; Mélanie Letexier; Jean-Paul Saraiva; Tien D Luu; Florian Sennlaub; Hoan Nguyen; Olivier Poch; Hélène Dollfus; Odile Lecompte; Susanne Kohl; José-Alain Sahel; Shomi S Bhattacharya; Isabelle Audo
Journal:  Am J Hum Genet       Date:  2012-12-13       Impact factor: 11.025

9.  A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27.

Authors:  L Gieser; R Fujita; H H Göring; J Ott; D R Hoffman; A V Cideciyan; D G Birch; S G Jacobson; A Swaroop
Journal:  Am J Hum Genet       Date:  1998-11       Impact factor: 11.025

10.  Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

Authors:  Denise Yan; Xiaomei Ouyang; D Michael Patterson; Li Lin Du; Samuel G Jacobson; Xue-Zhong Liu
Journal:  J Hum Genet       Date:  2009-10-30       Impact factor: 3.172

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