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Juvenile retinoschisis(RS1)

MedGen UID:
811458
Concept ID:
C3714753
Disease or Syndrome
Synonyms: Retinoschisis juvenile X chromosome-linked; RS1; X-Linked Juvenile Retinoschisis; X-linked retinoschisis; XJR
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
X-linked recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): RS1 (Xp22.13)
OMIM®: 312700
Orphanet: ORPHA792

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]
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.  https://ghr.nlm.nih.gov/condition/x-linked-juvenile-retinoschisis

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVJuvenile retinoschisis

Recent clinical studies

Etiology

Mukhtar S, Potter SM, Khurshid SG
Retin Cases Brief Rep 2019 Winter;13(1):18-20. doi: 10.1097/ICB.0000000000000521. PMID: 30562235
Sen P, Agarwal A, Bhende P, Gopal L, Bhende M, Rishi P, Sharma T, Jain M
Indian J Ophthalmol 2018 Dec;66(12):1825-1831. doi: 10.4103/ijo.IJO_607_18. PMID: 30451188Free PMC Article
Yoshida-Uemura T, Katagiri S, Yokoi T, Nishina S, Azuma N
Graefes Arch Clin Exp Ophthalmol 2017 Apr;255(4):719-723. Epub 2016 Nov 16 doi: 10.1007/s00417-016-3552-2. PMID: 27853955
Verbakel SK, van de Ven JP, Le Blanc LM, Groenewoud JM, de Jong EK, Klevering BJ, Hoyng CB
Invest Ophthalmol Vis Sci 2016 Oct 1;57(13):5143-5147. doi: 10.1167/iovs.16-20078. PMID: 27699410
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. PMID: 25168411Free PMC Article

Diagnosis

Mukhtar S, Potter SM, Khurshid SG
Retin Cases Brief Rep 2019 Winter;13(1):18-20. doi: 10.1097/ICB.0000000000000521. PMID: 30562235
Abalem MF, Musch DC, Birch DG, Pennesi ME, Heckenlively JR, Jayasundera T
Ophthalmic Genet 2018 Aug;39(4):437-442. Epub 2018 Jun 14 doi: 10.1080/13816810.2018.1466340. PMID: 29902095
Nicoletti A, Ziccardi L, Maltese PE, Benedetti S, Palumbo O, Rendina M, D'Agruma L, Falsini B, Wang X, Bertelli M
Genet Test Mol Biomarkers 2017 Feb;21(2):116-121. Epub 2016 Dec 20 doi: 10.1089/gtmb.2016.0257. PMID: 27997221Free PMC Article
Yoshida-Uemura T, Katagiri S, Yokoi T, Nishina S, Azuma N
Graefes Arch Clin Exp Ophthalmol 2017 Apr;255(4):719-723. Epub 2016 Nov 16 doi: 10.1007/s00417-016-3552-2. PMID: 27853955
Verbakel SK, van de Ven JP, Le Blanc LM, Groenewoud JM, de Jong EK, Klevering BJ, Hoyng CB
Invest Ophthalmol Vis Sci 2016 Oct 1;57(13):5143-5147. doi: 10.1167/iovs.16-20078. PMID: 27699410

Therapy

Mukhtar S, Potter SM, Khurshid SG
Retin Cases Brief Rep 2019 Winter;13(1):18-20. doi: 10.1097/ICB.0000000000000521. PMID: 30562235
Low S, Mohamed R, Ting M, Webster AR, Garway-Heath DF
Ophthalmic Genet 2018 Oct;39(5):625-627. Epub 2018 Aug 6 doi: 10.1080/13816810.2018.1490961. PMID: 30081704
Abalem MF, Musch DC, Birch DG, Pennesi ME, Heckenlively JR, Jayasundera T
Ophthalmic Genet 2018 Aug;39(4):437-442. Epub 2018 Jun 14 doi: 10.1080/13816810.2018.1466340. PMID: 29902095
Verbakel SK, van de Ven JP, Le Blanc LM, Groenewoud JM, de Jong EK, Klevering BJ, Hoyng CB
Invest Ophthalmol Vis Sci 2016 Oct 1;57(13):5143-5147. doi: 10.1167/iovs.16-20078. PMID: 27699410
Apaolaza PS, Del Pozo-Rodríguez A, Torrecilla J, Rodríguez-Gascón A, Rodríguez JM, Friedrich U, Weber BH, Solinís MA
J Control Release 2015 Nov 10;217:273-83. Epub 2015 Sep 21 doi: 10.1016/j.jconrel.2015.09.033. PMID: 26400864

Prognosis

Mukhtar S, Potter SM, Khurshid SG
Retin Cases Brief Rep 2019 Winter;13(1):18-20. doi: 10.1097/ICB.0000000000000521. PMID: 30562235
Yoshida-Uemura T, Katagiri S, Yokoi T, Nishina S, Azuma N
Graefes Arch Clin Exp Ophthalmol 2017 Apr;255(4):719-723. Epub 2016 Nov 16 doi: 10.1007/s00417-016-3552-2. PMID: 27853955
Verbakel SK, van de Ven JP, Le Blanc LM, Groenewoud JM, de Jong EK, Klevering BJ, Hoyng CB
Invest Ophthalmol Vis Sci 2016 Oct 1;57(13):5143-5147. doi: 10.1167/iovs.16-20078. PMID: 27699410
Xu F, Sui R, Dong F
Ophthalmic Genet 2012 Jun;33(2):77-82. Epub 2011 Dec 15 doi: 10.3109/13816810.2011.628359. PMID: 22171610
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

Clinical prediction guides

Abalem MF, Musch DC, Birch DG, Pennesi ME, Heckenlively JR, Jayasundera T
Ophthalmic Genet 2018 Aug;39(4):437-442. Epub 2018 Jun 14 doi: 10.1080/13816810.2018.1466340. PMID: 29902095
Yoshida-Uemura T, Katagiri S, Yokoi T, Nishina S, Azuma N
Graefes Arch Clin Exp Ophthalmol 2017 Apr;255(4):719-723. Epub 2016 Nov 16 doi: 10.1007/s00417-016-3552-2. PMID: 27853955
Verbakel SK, van de Ven JP, Le Blanc LM, Groenewoud JM, de Jong EK, Klevering BJ, Hoyng CB
Invest Ophthalmol Vis Sci 2016 Oct 1;57(13):5143-5147. doi: 10.1167/iovs.16-20078. PMID: 27699410
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. PMID: 25168411Free 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

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