Literature DB >> 3566604

Psychophysical and electroretinographic findings in X-linked juvenile retinoschisis.

N S Peachey, G A Fishman, D J Derlacki, M G Brigell.   

Abstract

We compared psychophysical and electroretinographic test results of four patients with X-linked juvenile retinoschisis who had clinically apparent lesions isolated to the foveal area. The b-wave of the flash electroretinogram was selectively reduced, while the a-wave was within the normal range. Oscillatory potentials generated by either the rod or cone systems were markedly reduced. Absolute thresholds outside the fovea were either normal or only moderately elevated, indicating that the sensory neural pathways were, by and large, operating with limited dysfunction. Therefore, the oscillatory potentials do not directly reflect, to any appreciable extent, the function of bipolar or ganglion cells. Finally, a sequence of pathologic events is proposed for X-linked juvenile retinoschisis that initiates with Müller cell dysfunction.

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Year:  1987        PMID: 3566604     DOI: 10.1001/archopht.1987.01060040083038

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN: 0003-9950


  50 in total

1.  Novel 473-bp deletion in XLRS1 gene in a Japanese family with X-linked juvenile retinoschisis.

Authors:  Kei Shinoda; Hisao Ohde; Susumu Ishida; Makoto Inoue; Yoshihisa Oguchi; Yukihiko Mashima
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2004-02-20       Impact factor: 3.117

2.  X-linked congenital retinoschisis.

Authors:  U Kellner; S Brümmer; M H Foerster; A Wessing
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1990       Impact factor: 3.117

3.  Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation.

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4.  Tyrosinase is the modifier of retinoschisis in mice.

Authors:  Britt A Johnson; Brian S Cole; Eldon E Geisert; Sakae Ikeda; Akihiro Ikeda
Journal:  Genetics       Date:  2010-09-27       Impact factor: 4.562

5.  Linkage mapping of a large Colombian family segregating for X linked retinoschisis: refinement of the chromosomal location.

Authors:  B S Shastry; J F Hejtmancik; A Rodriguez; F Rodriguez; M L Tamayo
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318

6.  Improved genetic mapping of X linked retinoschisis.

Authors:  N D George; S J Payne; R M Bill; D E Barton; A T Moore; J R Yates
Journal:  J Med Genet       Date:  1996-11       Impact factor: 6.318

7.  Mouse models of X-linked juvenile retinoschisis have an early onset phenotype, the severity of which varies with genotype.

Authors:  Yang Liu; Junzo Kinoshita; Elena Ivanova; Duo Sun; Hong Li; Tara Liao; Jingtai Cao; Brent A Bell; Jacob M Wang; Yajun Tang; Susannah Brydges; Neal S Peachey; Botir T Sagdullaev; Carmelo Romano
Journal:  Hum Mol Genet       Date:  2019-09-15       Impact factor: 6.150

8.  ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT.

Authors:  Agnes B Renner; Ulrich Kellner; Britta Fiebig; Elke Cropp; Michael H Foerster; Bernhard H F Weber
Journal:  Doc Ophthalmol       Date:  2007-11-07       Impact factor: 2.379

9.  The multifocal electroretinogram in X-linked juvenile retinoschisis.

Authors:  Shizhou Huang; Dezheng Wu; Futian Jiang; Guangwei Luo; Jiongji Liang; Feng Wen; Minzhong Yu; Shixian Long; Lezheng Wu
Journal:  Doc Ophthalmol       Date:  2003-05       Impact factor: 2.379

10.  Abnormalities of the scotopic threshold response correlated with gene mutation in X-linked retinoschisis and congenital stationary night blindness.

Authors:  Keith Bradshaw; Douglas Newman; Louise Allen; Anthony Moore
Journal:  Doc Ophthalmol       Date:  2003-09       Impact factor: 2.379

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