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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
Source: 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.
 
Gene (location): RS1 (Xp22.13)
 
Monarch Initiative: MONDO:0010725
OMIM®: 312700
Orphanet: ORPHA792

Disease characteristics

Excerpted from the GeneReview: X-Linked Congenital Retinoschisis
X-linked congenital retinoschisis (XLRS) 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 20/60 to 20/120 vision. 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 Hoang   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 MedlinePlus Genetics
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://medlineplus.gov/genetics/condition/x-linked-juvenile-retinoschisis

Clinical features

From HPO
Hypermetropia
MedGen UID:
43780
Concept ID:
C0020490
Disease or Syndrome
An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
Retinal degeneration
MedGen UID:
48432
Concept ID:
C0035304
Finding
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.
Retinal detachment
MedGen UID:
19759
Concept ID:
C0035305
Disease or Syndrome
Primary or spontaneous detachment of the retina occurs due to underlying ocular disease and often involves the vitreous as well as the retina. The precipitating event is formation of a retinal tear or hole, which permits fluid to accumulate under the sensory layers of the retina and creates an intraretinal cleavage that destroys the neurosensory process of visual reception. Vitreoretinal degeneration and tear formation are painless phenomena, and in most cases, significant vitreoretinal pathology is found only after detachment of the retina starts to cause loss of vision or visual field. Without surgical intervention, retinal detachment will almost inevitably lead to total blindness (summary by McNiel and McPherson, 1971).
Vitreous hemorrhage
MedGen UID:
12119
Concept ID:
C0042909
Pathologic Function
Bleeding within the vitreous compartment of the eye.
Retinoschisis
MedGen UID:
56292
Concept ID:
C0152439
Disease or Syndrome
Splitting of the neuroretinal layers of the retina.
Macular atrophy
MedGen UID:
140841
Concept ID:
C0423421
Finding
Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.
Retinal atrophy
MedGen UID:
101075
Concept ID:
C0521694
Disease or Syndrome
Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.
Peripheral cystoid retinal degeneration
MedGen UID:
374208
Concept ID:
C1839362
Finding
Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly.
Progressive visual loss
MedGen UID:
326867
Concept ID:
C1839364
Finding
A reduction of previously attained ability to see.
Retinal pigment epithelial atrophy
MedGen UID:
333564
Concept ID:
C1840457
Finding
Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.
Electronegative electroretinogram
MedGen UID:
867203
Concept ID:
C4021561
Finding
A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source
Mizuo phenomenon
MedGen UID:
896050
Concept ID:
C4280748
Finding
Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14].

Term Hierarchy

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

Professional guidelines

PubMed

Fortunato P, Pagliazzi A, Bargiacchi S, Marziali E, Sodi A, Caputo R, Passerini I, Pelo E, Bacci GM
Ophthalmic Genet 2023 Feb;44(1):35-42. Epub 2022 Nov 15 doi: 10.1080/13816810.2022.2141790. PMID: 36377647
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
Kim DY, Mukai S
Semin Ophthalmol 2013 Sep-Nov;28(5-6):392-6. doi: 10.3109/08820538.2013.825299. PMID: 24138048

Recent clinical studies

Etiology

Fortunato P, Pagliazzi A, Bargiacchi S, Marziali E, Sodi A, Caputo R, Passerini I, Pelo E, Bacci GM
Ophthalmic Genet 2023 Feb;44(1):35-42. Epub 2022 Nov 15 doi: 10.1080/13816810.2022.2141790. PMID: 36377647
Gao FJ, Dong JH, Wang DD, Chen F, Hu FY, Chang Q, Xu P, Liu W, Li JK, Huang Y, Wu JH, Xu GZ
Acta Ophthalmol 2021 Jun;99(4):e470-e479. Epub 2020 Oct 30 doi: 10.1111/aos.14642. PMID: 33124204Free PMC Article
Ambrosio L, Hansen RM, Kimia R, Fulton AB
Invest Ophthalmol Vis Sci 2019 Nov 1;60(14):4872-4881. doi: 10.1167/iovs.19-27897. PMID: 31747688
Maruko I, Morizane Y, Kimura S, Shiode Y, Hosokawa M, Sekiryu T, Iida T, Shiraga F
Retina 2016 Aug;36(8):1486-92. doi: 10.1097/IAE.0000000000000938. PMID: 26756808
Lesch B, Szabó V, Kánya M, Somfai GM, Vámos R, Varsányi B, Pámer Z, Knézy K, Salacz G, Janáky M, Ferencz M, Hargitai J, Papp A, Farkas A
Mol Vis 2008;14:2321-32. Epub 2008 Dec 12 PMID: 19093009Free PMC Article

Diagnosis

Bagdonaite-Bejarano L, Hansen RM, Fulton AB
Semin Ophthalmol 2019;34(4):334-339. Epub 2019 May 30 doi: 10.1080/08820538.2019.1622025. PMID: 31146612
Karlstetter M, Scholz R, Rutar M, Wong WT, Provis JM, Langmann T
Prog Retin Eye Res 2015 Mar;45:30-57. Epub 2014 Dec 2 doi: 10.1016/j.preteyeres.2014.11.004. PMID: 25476242
Kim DY, Mukai S
Semin Ophthalmol 2013 Sep-Nov;28(5-6):392-6. doi: 10.3109/08820538.2013.825299. PMID: 24138048
Molday RS, Kellner U, Weber BH
Prog Retin Eye Res 2012 May;31(3):195-212. Epub 2012 Jan 3 doi: 10.1016/j.preteyeres.2011.12.002. PMID: 22245536Free PMC Article
Falcone PM, Brockhurst RJ
Int Ophthalmol Clin 1993 Spring;33(2):193-202. doi: 10.1097/00004397-199303320-00018. PMID: 8325733

Therapy

Ranabhat S, Byanju R, Khadka S
J Nepal Health Res Counc 2022 Jun 3;20(1):260-264. doi: 10.33314/jnhrc.v20i01.3757. PMID: 35945887
Kousal B, Hlavata L, Vlaskova H, Dvorakova L, Brichova M, Dubska Z, Langrova H, Vincent AL, Dudakova L, Liskova P
Genes (Basel) 2021 Nov 18;12(11) doi: 10.3390/genes12111816. PMID: 34828422Free PMC Article
Bagdonaite-Bejarano L, Hansen RM, Fulton AB
Semin Ophthalmol 2019;34(4):334-339. Epub 2019 May 30 doi: 10.1080/08820538.2019.1622025. PMID: 31146612
Xiao Y, Liu X, Tang L, Wang X, Coursey TG, Guo X, Li Z
Sci Rep 2016 Jan 29;6:20118. doi: 10.1038/srep20118. PMID: 26823236Free PMC Article
Ali S, Seth R
Semin Ophthalmol 2013 Jan;28(1):50-4. doi: 10.3109/08820538.2012.667496. PMID: 23163265

Prognosis

Liu Z, Guo J, Pan M, Xie K, Du L, Jin X, Lei B
Ophthalmic Genet 2023 Jun;44(3):262-270. Epub 2023 Mar 1 doi: 10.1080/13816810.2023.2182328. PMID: 36856325
Kousal B, Hlavata L, Vlaskova H, Dvorakova L, Brichova M, Dubska Z, Langrova H, Vincent AL, Dudakova L, Liskova P
Genes (Basel) 2021 Nov 18;12(11) doi: 10.3390/genes12111816. PMID: 34828422Free PMC Article
Zhang L, Reyes R, Lee W, Chen CL, Chan L, Sujirakul T, Chang S, Tsang SH
Doc Ophthalmol 2015 Aug;131(1):63-70. Epub 2015 Mar 22 doi: 10.1007/s10633-015-9496-8. PMID: 25796216Free PMC Article
Regillo CD, Custis PH
Curr Opin Ophthalmol 1997 Jun;8(3):80-6. doi: 10.1097/00055735-199706000-00014. PMID: 10168899
McMahon TT, Rosenthal BP
J Am Optom Assoc 1983 Jan;54(1):55-61. PMID: 6682127

Clinical prediction guides

Liu Z, Guo J, Pan M, Xie K, Du L, Jin X, Lei B
Ophthalmic Genet 2023 Jun;44(3):262-270. Epub 2023 Mar 1 doi: 10.1080/13816810.2023.2182328. PMID: 36856325
Fortunato P, Pagliazzi A, Bargiacchi S, Marziali E, Sodi A, Caputo R, Passerini I, Pelo E, Bacci GM
Ophthalmic Genet 2023 Feb;44(1):35-42. Epub 2022 Nov 15 doi: 10.1080/13816810.2022.2141790. PMID: 36377647
Kousal B, Hlavata L, Vlaskova H, Dvorakova L, Brichova M, Dubska Z, Langrova H, Vincent AL, Dudakova L, Liskova P
Genes (Basel) 2021 Nov 18;12(11) doi: 10.3390/genes12111816. PMID: 34828422Free PMC Article
Gao FJ, Dong JH, Wang DD, Chen F, Hu FY, Chang Q, Xu P, Liu W, Li JK, Huang Y, Wu JH, Xu GZ
Acta Ophthalmol 2021 Jun;99(4):e470-e479. Epub 2020 Oct 30 doi: 10.1111/aos.14642. PMID: 33124204Free PMC Article
Trese MT, Foos RY
Br J Ophthalmol 1980 Mar;64(3):206-10. doi: 10.1136/bjo.64.3.206. PMID: 7387953Free PMC Article

Recent systematic reviews

van der Veen I, Heredero Berzal A, Koster C, Ten Asbroek ALMA, Bergen AA, Boon CJF
Int J Mol Sci 2024 Jan 19;25(2) doi: 10.3390/ijms25021267. PMID: 38279267Free PMC Article

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