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Scholar Results 1 - 10 of about 14 citing Simonelli: Clinical features of X linked juvenile retinoschisis associated with new mutations.... (0.10 sec) 

X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients

- bmj.com
D Pimenides, NDL George, JRW Yates, K … - British Medical Journal, 2005 - jmg.bmj.com
Background: Inactivating mutations of the gene RS1 lead to X-linked
retinoschisis, a progressive retinal dystrophy characterised by schisis within
the inner layers of the neuroretina. The mutation spectrum is large and the ...
Cited by 22 - Related articles - All 7 versions

X-linked retinoschisis: an update


SK Sikkink, S Biswas, NRA Parry, PE Stanga, … - British Medical Journal, 2007 - jmg.bmj.com
X-linked retinoschisis is the leading cause of macular degeneration in males and
leads to splitting within the inner retinal layers leading to visual
deterioration. Many missense and protein truncating mutations have now been ...
Cited by 17 - Related articles - BL Direct - All 5 versions

Four Japanese male patients with juvenile retinoschisis: only three have mutations in the …


T Hayashi, S Omoto, T Takeuchi, K Kozaki, Y … - American journal of ophthalmology, 2004 - Elsevier
The four affected patients showed cystoid- or wheel-like foveal changes with a
little or no fluorescein leakage and negative b-wave patterns in both eyes. The
OCT images of foveal retinoschisis disclosed that splitting occurs in the ...
Cited by 12 - Related articles - All 6 versions

ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 …


AB Renner, U Kellner, B Fiebig, E Cropp, MH … - Documenta Ophthalmologica, 2008 - Springer
Abstract Purpose X-linked congenital retinoschisis (RS) is a relatively frequent
retinal dystrophy assoc- iated with RS1 gene mutations. A negative electro
retinogram (ERG), ie, ab/a wave ratio \1.0 in the standard combined ...
Cited by 4 - Related articles - BL Direct - All 2 versions

Novel 473-bp deletion in XLRS1 gene in a Japanese family with X-linked juvenile …


K Shinoda, H Ohde, S Ishida, M Inoue, Y … - Graefe's Archive for Clinical and Experimental …, 2004 - Springer
Graefe's Arch Clin Exp Ophthalmol (2004) 242:561–565 CLINI C AL I NVESTIGA
TION ... Kei Shinoda Hisao Ohde Susumu Ishida Makoto Inoue Yoshihisa Oguchi
Yukihiko Mashima ... Received: 3 November 2003 Revised: 18 December 2003 ...
Cited by 3 - Related articles - BL Direct - All 3 versions

Genetic modification of the schisis phenotype in a mouse model of X-linked retinoschisis

- genetics.org
BA Johnson, N Aoyama, NH Friedell, S Ikeda, … - Genetics, 2008 - Genetics Soc America
X-linked retinoschisis (XLRS) is an inherited form of macular degeneration that
is caused by mutations in the retinoschisin (RS1) gene. In addition to macular
degeneration, other major characteristics of XLRS include splitting of the ...
Cited by 3 - Related articles - BL Direct - All 6 versions

[PDF] Clinical features of X linked juvenile retinoschisis in Chinese families associated with …


X Li, X Ma, Y Tao - Mol Vis, 2007 - molvis.org
X-linked retinoschisis (XLRS) is one of the most com- mon causes of juvenile
macular degeneration in males [1], with a worldwide prevalence of 1 in
15,000-25,000 men [2]. This X-linked trait affects only men; female ...
Cited by 3 - Related articles - View as HTML - All 4 versions

Identification of novel mutations in the XLRS1 gene in Chinese patients with X-linked …


M Zeng, C Yi, X Guo, X Jia, Y Deng, J Wang, … - Current Eye Research, 2007 - informahealthcare.com
X-linked juvenile retinoschisis (XLRS) is a major cause of macular degeneration
in young men. In this study we analyzed all six exons of the XLRS1 gene in four
sporadic XLRS patients and in an affected family in China who were recently ...
Cited by 2 - Related articles - BL Direct - All 5 versions

Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked …


B Suganthalakshmi, D Shukla, A Rajendran, R … - Molecular Vision, 2007 - pubmedcentral.nih.gov
X-linked juvenile retinoschisis (XLRS) is the leading cause of macular
degeneration in males. This condition is caused by mutations in the RS1 gene and
is, characterized by schisis within the retina. The purpose of this study ...
Cited by 2 - Related articles - All 4 versions

Genetics of hereditary vitreoretinal degenerations


SI Pachydaki, LH Young - Seminars in Ophthalmology, 2007 - informahealthcare.com
The hereditary vitreoretinal disorders have variable vitreoretinal and other
ocular and skeletal abnormalities. Some of these conditions represent a spectrum
of clinical disease. This, along with the phenotypic variability, often ...
Cited by 1 - Related articles - BL Direct - All 5 versions


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