Literature DB >> 3377039

Detection of the carrier state of X-linked retinoschisis.

G B Arden1, M B Gorin, P J Polkinghorne, M Jay, A C Bird.   

Abstract

We determined the extent of suppressive rod-cone interaction in 11 obligate carriers and eight potential carriers of X-linked retinoschisis from eight families. Despite otherwise normal ophthalmoscopic and functional testing, all of the obligate heterozygous carriers demonstrated a complete absence of normal rod-cone interaction. Of the potential heterozygous carriers, three had normal rod-cone interactions, two had no detectable interaction, and two yielded technically unsatisfactory results. This lack of rod-cone interactions allows heterozygous individuals to be identified clinically and has implications concerning the origin of this inherited disorder.

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Year:  1988        PMID: 3377039     DOI: 10.1016/0002-9394(88)90049-9

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN: 0002-9394            Impact factor:   5.258


  14 in total

1.  Foveal flicker-fusion frequencies: a simple, new apparatus (4F).

Authors:  A Neetens; P Van den Ende
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1992       Impact factor: 3.117

Review 2.  Invaginating Presynaptic Terminals in Neuromuscular Junctions, Photoreceptor Terminals, and Other Synapses of Animals.

Authors:  Ronald S Petralia; Ya-Xian Wang; Mark P Mattson; Pamela J Yao
Journal:  Neuromolecular Med       Date:  2017-06-13       Impact factor: 3.843

3.  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

4.  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

5.  Linkage disequilibrium and physical mapping of X-linked juvenile retinoschisis.

Authors:  L Huopaniemi; A Rantala; E Tahvanainen; A de la Chapelle; T Alitalo
Journal:  Am J Hum Genet       Date:  1997-05       Impact factor: 11.025

6.  Refinement of the chromosomal position of the X linked juvenile retinoschisis gene.

Authors:  A A Bergen; J B ten Brink; L M Bleeker-Wagemakers; M J van Schooneveld
Journal:  J Med Genet       Date:  1994-12       Impact factor: 6.318

Review 7.  X linked retinoschisis.

Authors:  N D George; J R Yates; A T Moore
Journal:  Br J Ophthalmol       Date:  1995-07       Impact factor: 4.638

8.  Abnormal 8-Hz flicker electroretinograms in carriers of X-linked retinoschisis.

Authors:  J Jason McAnany; Jason C Park; Frederick T Collison; Gerald A Fishman; Edwin M Stone
Journal:  Doc Ophthalmol       Date:  2016-07-01       Impact factor: 2.379

9.  Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families.

Authors:  Xiang Ma; Xiaoxin Li; Lihua Wang
Journal:  Jpn J Ophthalmol       Date:  2008-03-28       Impact factor: 2.447

10.  Genetic analysis of new French X-linked juvenile retinoschisis kindreds using microsatellite markers closely linked to the RS locus: further narrowing of the RS candidate region.

Authors:  V Dumur; E Trivier; B Puech; F Peugnet; X Zanlonghi; J C Hache; A Hanauer
Journal:  Hum Genet       Date:  1995-07       Impact factor: 4.132

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