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RETINOSCHISIS 1, X-LINKED, JUVENILE

Known as: RS, RS1, XLRS1 
National Institutes of Health

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Related topics

6 relations
Choroidal sclerosisHyperopiaRetinal DegenerationRetinal Detachment

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant
BackgroundTo describe the clinical phenotype and genetic cause underlying the disease pathology in a pedigree (affected n = 9… 
2008
2008
Molecular analysis of the XLRS1 gene in 4 females affected with X-linked juvenile retinoschisis.
BACKGROUND X-linked juvenile retinoschisis (XLRS) is the most common cause of juvenile macular degeneration in males. Because of… 
2008
2008
Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families
PurposeTo investigate various XLRS1 (RS1) gene mutations in Chinese families with X-linked juvenile retinoschisis (XLRS or RS… 
Review
2005
Review
2005
X-LINKED RETINOSCHISIS IN THREE FEMALES FROM THE SAME FAMILY: A PHENOTYPE–GENOTYPE CORRELATION
Purpose: To describe the clinical findings and outcome for three homozygous females affected with X-linked retinoschisis (XLRS… 
2003
2003
Three Novel Mutations in the X-Linked Juvenile Retinoschisis (XLRS1) Gene in 6 Japanese Patients, 1 of Whom Had Turner’s Syndrome
We examined the XLRS1 gene for mutations in 6 Japanese patients with X-linked juvenile retinoschisis from a total of three… 
Review
2001
Review
2001
Molecular genetics of macular degeneration
Macular degeneration is a leading cause of blindness that affects the aged population. The complexity of the molecular basis of… 
2001
2001
[Identification of mutation of the X-linked juvenile retinoschisis gene].
OBJECTIVE To elucidate the pathogeny of X-linked retinoschisis(XLRS) and evaluate its value in direct gene diagnosis. METHODS… 
1999
1999
Identification of four novel mutations of the XLRS1 gene in Japanese patients with X‐linked juvenile retinoschisis
The XLRS1 gene (HUGO‐approved symbol, RS1) has been found to cause X‐linked recessive retinoschisis (RS) which is characterized… 
1999
1999
Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis.
Congenital retinoschisis (RS) is a hereditary eye disorder characterized by intraretinal schisis and central and peripheral… 
1998
1998
Novel mutations in the XLRS1 gene may be caused by early Okazaki fragment sequence replacement.
PURPOSE To determine whether two families diagnosed with X-linked retinoschisis contained mutations in the XLRS1 gene. METHODS… 
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