Results 81 to 90 of about 7,532,788 (147)
Optical coherence tomography and congenital retinoschisis: three case reports
Revista Brasileira de OftalmologiaCongenital retinoschisis is an X-linked recessive inherited disease. It causes the splitting of the retina’s neurosensory layers from the remaining of the sensory retina, presenting itself as a “stellate” or “bicycle-wheel” maculopathy, vitreous ...
Cláudia Gallicchio Domingues +4 more
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Indian Journal of Ophthalmology, 2015 X-linked retinoschisis (XLR) is an uncommon bilateral vitreoretinal dystrophy characterized by typical foveoschisis in all patients that may be associated with peripheral retinoschisis.
Neha Goel, Basudeb Ghosh
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A novel gene mutation in a family with X-linked retinoschisis
Journal of the Formosan Medical Association, 2015 To describe the clinical characteristics of a Taiwanese family with X-linked retinoschisis (XLRS) and to investigate the molecular genetics of a novel mutation in the retinoschisin 1 (RS1) gene.
Yu-Hung Lai +7 more
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Clinical Ophthalmology, 2012 Theodore LengByers Eye Institute at Stanford, Stanford University School of Medicine, Palo Alto, CA, USAAbstract: Spectral domain optical coherence tomography was used to image the maculae of two brothers who had the diagnosis of X-linked retinoschisis ...
Leng T
doaj
The gene mutation in a Taiwanese family with X-linked retinoschisis
Kaohsiung Journal of Medical Sciences, 2015 X-linked retinoschisis (XLRS) is one of the leading causes of macular degeneration in male children. The purpose of this study is to describe the clinical characteristics of a Taiwanese family with X-linked retinoschisis (XLRS) and to investigate the ...
Chin-Te Huang +2 more
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R102W mutation in the RS1 gene responsible for retinoschisis and recurrent glaucoma
International Journal of Ophthalmology, 2014 AIM: To identify the mutations in RS1 gene associated with typical phenotype of X-linked juvenile retinoschisis (XLRS) and a rare condition of concomitant glaucoma.METHODS: Complete ophthalmic examinations were performed in the proband.
Xiu-Feng Huang +5 more
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Purpose:The purpose of this study was to describe the presentation and surgical management of a young boy initially believed to have familial exudative vitreoretinopathy who was ultimately diagnosed with an unusually aggressive form of X-linked ...
Khan, Arif O. +3 more
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, 1998 IP 6207-04-322-95refinement of the chromosomal location / Marta L. Tamayo....[et al]. --En: Journal of Medical Genetics. --;ARTICULO(S) EN REVISTA: Linkage mapping of a large Colombian family segregating for X linked retinoschisis:;Vol. 34 (1997); p. 504-
Hetjmancik, Fielding +1 more
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X-linked juvenile retinoschisis (RS) maps between DXS987 and DXS443
, 1995 X-linked juvenile retinoschisis (RS) has previously been localized to a 7–8 cM interval between markers at (DXS43, DXS207) and (DXS274, DXS41). Our analysis of more than 300 meioses in two multigeneration RS families identified eight recombinant RS ...
Weber, Bernhard H. F. +6 more
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Nasal involvement in X-linked retinoschisis
Indian Journal of Ophthalmology, 2017 Vinod Kumar
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