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Juvenile retinoschisis(RS1)

MedGen UID:
82863
Concept ID:
C0271091
Disease or Syndrome
Synonyms: Retinoschisis juvenile X chromosome-linked; RS1; X-Linked Juvenile Retinoschisis; X-linked retinoschisis; XJR
Modes of inheritance:
X-linked dominant inheritance
MedGen UID:
376232
Concept ID:
C1847879
Finding
SNOMED CT: X-linked retinoschisis (86923008); Juvenile retinoschisis (86923008)
 
Gene (location): RS1 (Xp22.13)
OMIM®: 312700

Disease characteristics

Excerpted from the GeneReview: X-Linked Juvenile Retinoschisis
X-linked juvenile retinoschisis is characterized by symmetric bilateral macular involvement with onset in the first decade of life, in some cases as early as age three months. Fundus examination shows areas of schisis (splitting of the nerve fiber layer of the retina) in the macula, sometimes giving the impression of a spoke wheel pattern. Schisis of the peripheral retina, predominantly inferotemporally, occurs in approximately 50% of individuals. Affected males typically have vision of 20/60 to 20/120. Visual acuity often deteriorates during the first and second decades of life but then remains relatively stable until the fifth or sixth decade.  [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Paul A Sieving  |  Ian M MacDonald  |  Stephanie Chan   view full author information

Additional descriptions

From OMIM
X-linked retinoschisis (XLRS) is a retinal dystrophy that leads to schisis (splitting) of the neural retina leading to reduced visual acuity in affected men. The condition accounts for almost all congenital retinoschisis, with occasional reports of autosomal dominant retinoschisis (see 180270) making up the remainder. The split in the retina occurs predominantly within the inner retinal layers and is very different from retinal detachment, which is a split between the neural retina and the retinal pigment epithelium. In general, carrier females remain asymptomatic (summary by Sikkink et al., 2007).  http://www.omim.org/entry/312700
From GHR
X-linked juvenile retinoschisis is a condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. This disorder affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. Damage to the retina impairs the sharpness of vision (visual acuity) in both eyes. Typically, X-linked juvenile retinoschisis affects cells in the central area of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. X-linked juvenile retinoschisis is one type of a broader disorder called macular degeneration, which disrupts the normal functioning of the macula. Occasionally, side (peripheral) vision is affected in people with X-linked juvenile retinoschisis. X-linked juvenile retinoschisis is usually diagnosed when affected boys start school and poor vision and difficulty with reading become apparent. In more severe cases, eye squinting and involuntary movement of the eyes (nystagmus) begin in infancy. Other early features of X-linked juvenile retinoschisis include eyes that do not look in the same direction (strabismus) and farsightedness (hyperopia). Visual acuity often declines in childhood and adolescence but then stabilizes throughout adulthood until a significant decline in visual acuity typically occurs in a man's fifties or sixties. Sometimes, severe complications develop, such as separation of the retinal layers (retinal detachment) or leakage of blood vessels in the retina (vitreous hemorrhage). These eye abnormalities can further impair vision or cause blindness.  http://ghr.nlm.nih.gov/condition/x-linked-juvenile-retinoschisis

Clinical features

Abnormal electroretinogram
MedGen UID:
96908
Concept ID:
C0476397
Finding
Cystic retinal degeneration
MedGen UID:
374208
Concept ID:
C1839362
Finding
Progressive visual loss
MedGen UID:
355674
Concept ID:
C1866286
Finding
Cataract
MedGen UID:
368085
Concept ID:
C1962983
Finding
Glaucoma
MedGen UID:
409541
Concept ID:
C1962986
Finding
Retinal detachment
MedGen UID:
368440
Concept ID:
C1963229
Finding
Abnormality of eye movement
MedGen UID:
424997
Concept ID:
CN000464
Finding
An abnormality in voluntary or involuntary eye movements or their control.
Chorioretinal atrophy
MedGen UID:
504482
Concept ID:
CN000499
Finding
Atrophy of the choroid and retinal layers of the fundus.
Chorioretinal coloboma
MedGen UID:
504500
Concept ID:
CN000532
Finding
Absence of a region of the retina, retinal pigment epithelium, and choroid.
Retinal atrophy
MedGen UID:
504728
Concept ID:
CN001038
Finding
Reduced amplitude of b-wave (ERG)
MedGen UID:
429175
Concept ID:
CN007016
Finding
An abnormal reduction in the amplitude of the b-wave in the presence of a preserved a-wave.
Retinoschisis
MedGen UID:
850948
Concept ID:
CN231532
Finding
Splitting of the neuroretinal layers of the retina.

Term Hierarchy

Recent clinical studies

Etiology

Huang Y, Mei L, Gui B, Su W, Liang D, Wu L, Pan Q
Eye (Lond) 2014 Nov;28(11):1364-9. Epub 2014 Aug 29 doi: 10.1038/eye.2014.196. [Epub ahead of print] PMID: 25168411Free PMC Article
Tian R, Jiang RX, Chen YX
Chin Med J (Engl) 2013 Nov;126(22):4392-4. PMID: 24238536
Skorczyk A, Krawczyński MR
Mol Vis 2012;18:3004-12. Epub 2012 Dec 13 PMID: 23288992Free PMC Article
Yi J, Li S, Jia X, Xiao X, Wang P, Guo X, Zhang Q
Int J Mol Med 2012 Apr;29(4):644-8. Epub 2012 Jan 10 doi: 10.3892/ijmm.2012.882. [Epub ahead of print] PMID: 22245991Free PMC Article
Xu F, Sui R, Dong F
Ophthalmic Genet 2012 Jun;33(2):77-82. Epub 2011 Dec 15 doi: 10.3109/13816810.2011.628359. [Epub ahead of print] PMID: 22171610

Diagnosis

Gliem M, Holz FG, Stöhr H, Weber BH, Charbel Issa P
Retina 2014 Dec;34(12):2472-8. doi: 10.1097/IAE.0000000000000243. PMID: 25054456
Kim DY, Mukai S
Semin Ophthalmol 2013 Sep-Nov;28(5-6):392-6. doi: 10.3109/08820538.2013.825299. PMID: 24138048
Yang FP, Willyasti K, Leo SW
J AAPOS 2013 Apr;17(2):225-7. Epub 2013 Mar 29 doi: 10.1016/j.jaapos.2012.11.016. [Epub ahead of print] PMID: 23541677
Ali S, Seth R
Semin Ophthalmol 2013 Jan;28(1):50-4. doi: 10.3109/08820538.2012.667496. PMID: 23163265
Xu F, Sui R, Dong F
Ophthalmic Genet 2012 Jun;33(2):77-82. Epub 2011 Dec 15 doi: 10.3109/13816810.2011.628359. [Epub ahead of print] PMID: 22171610

Therapy

Yang HS, Lee JB, Yoon YH, Lee JY
Invest Ophthalmol Vis Sci 2014 May 8;55(5):3029-36. doi: 10.1167/iovs.14-13955. PMID: 24713485
Yang FP, Willyasti K, Leo SW
J AAPOS 2013 Apr;17(2):225-7. Epub 2013 Mar 29 doi: 10.1016/j.jaapos.2012.11.016. [Epub ahead of print] PMID: 23541677
Ali S, Seth R
Semin Ophthalmol 2013 Jan;28(1):50-4. doi: 10.3109/08820538.2012.667496. PMID: 23163265
Bastos AL, Freitas Bde P, Villas Boas O, Ramiro AC
Arq Bras Oftalmol 2008 Mar-Apr;71(2):286-90. PMID: 18516436
Hum Mol Genet 1998 Jul;7(7):1185-92. PMID: 9618178

Prognosis

Skorczyk A, Krawczyński MR
Mol Vis 2012;18:3004-12. Epub 2012 Dec 13 PMID: 23288992Free PMC Article
Xu F, Sui R, Dong F
Ophthalmic Genet 2012 Jun;33(2):77-82. Epub 2011 Dec 15 doi: 10.3109/13816810.2011.628359. [Epub ahead of print] PMID: 22171610
Xu J, Gu H, Ma K, Liu X, Snellingen T, Sun E, Wang N, Liu N
Mol Vis 2010 Aug 12;16:1593-600. PMID: 20806044Free PMC Article
Lee JJ, Kim JH, Kim SY, Park SS, Yu YS
Korean J Ophthalmol 2009 Jun;23(2):118-20. Epub 2009 Jun 9 doi: 10.3341/kjo.2009.23.2.118. PMID: 19568363Free PMC Article
Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez-Pardo A, Garcia-Hoyos M, Lopez-Martinez MA, Aguirre-Lamban J, Garcia-Sandoval B, Vazquez-Fernandez del Pozo S, Cantalapiedra D, Avila-Fernandez A, Baiget M, Ramos C, Ayuso C
Invest Ophthalmol Vis Sci 2009 Sep;50(9):4342-50. Epub 2009 Mar 25 doi: 10.1167/iovs.09-3418. [Epub ahead of print] PMID: 19324861

Clinical prediction guides

Huang Y, Mei L, Gui B, Su W, Liang D, Wu L, Pan Q
Eye (Lond) 2014 Nov;28(11):1364-9. Epub 2014 Aug 29 doi: 10.1038/eye.2014.196. [Epub ahead of print] PMID: 25168411Free PMC Article
Xu J, Gu H, Ma K, Liu X, Snellingen T, Sun E, Wang N, Liu N
Mol Vis 2010 Aug 12;16:1593-600. PMID: 20806044Free PMC Article
Lee JJ, Kim JH, Kim SY, Park SS, Yu YS
Korean J Ophthalmol 2009 Jun;23(2):118-20. Epub 2009 Jun 9 doi: 10.3341/kjo.2009.23.2.118. PMID: 19568363Free PMC Article
Langmann T, Lai CC, Weigelt K, Tam BM, Warneke-Wittstock R, Moritz OL, Weber BH
Nucleic Acids Res 2008 Nov;36(20):6523-34. Epub 2008 Oct 16 doi: 10.1093/nar/gkn737. [Epub ahead of print] PMID: 18927113Free PMC Article
Hayashi T, Omoto S, Takeuchi T, Kozaki K, Ueoka Y, Kitahara K
Am J Ophthalmol 2004 Nov;138(5):788-98. doi: 10.1016/j.ajo.2004.06.031. PMID: 15531314

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