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Retinoschisis

MedGen UID:
56292
Concept ID:
C0152439
Disease or Syndrome
Synonym: Retinoschises
SNOMED CT: Schisis of retina (44268007); RS - Retinoschisis (44268007); Retinoschisis (44268007)
 
HPO: HP:0030502
Monarch Initiative: MONDO:0004579

Definition

Splitting of the neuroretinal layers of the retina. [from HPO]

Conditions with this feature

Enhanced S-cone syndrome
MedGen UID:
341446
Concept ID:
C1849394
Disease or Syndrome
An autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. Characteristics include visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration.
Congenital myasthenic syndrome 12
MedGen UID:
765249
Concept ID:
C3552335
Disease or Syndrome
Congenital myasthenic syndrome-12 is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors (summary by Senderek et al., 2011). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).
Juvenile retinoschisis
MedGen UID:
811458
Concept ID:
C3714753
Disease or Syndrome
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.
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
MedGen UID:
1638681
Concept ID:
C4554120
Disease or Syndrome
CLCN2-related leukoencephalopathy is characterized by nonspecific neurologic findings, mild visual impairment from chorioretinopathy or optic atrophy, male infertility, and characteristic findings on brain MRI. Neurologic findings include mild ataxia (action tremor and gait instability following initially normal motor development; occasionally, mild spasticity), cognitive impairment in some (typically mild, rarely severe), psychiatric symptoms in some (depression and schizophrenia-like symptoms), headaches in some (usually intermittent, severe, and diffuse) and auditory symptoms in some (hearing loss, tinnitus, vertigo). Affected individuals remain ambulatory, do not require support for walking, and rarely become blind. To date CLCN2-related leukoencephalopathy has been reported or identified in 31 individuals from 30 families. It is not yet known if the findings occurring in a few individuals (i.e., epilepsy and paroxysmal kinesigenic dyskinesia) are part of the phenotypic spectrum or unrelated findings.

Professional guidelines

PubMed

Ness S, Subramanian ML, Chen X, Siegel NH
Surv Ophthalmol 2022 Jul-Aug;67(4):892-907. Epub 2021 Dec 8 doi: 10.1016/j.survophthal.2021.12.004. PMID: 34896193
Ozdemir HB, Ozdal PC
Graefes Arch Clin Exp Ophthalmol 2022 Feb;260(2):561-569. Epub 2021 Sep 27 doi: 10.1007/s00417-021-05398-4. PMID: 34568953
Sen M, Honavar SG
Indian J Ophthalmol 2019 Dec;67(12):1965-1973. doi: 10.4103/ijo.IJO_2036_19. PMID: 31755430Free PMC Article

Recent clinical studies

Etiology

Cheong KX, Xu L, Ohno-Matsui K, Sabanayagam C, Saw SM, Hoang QV
Surv Ophthalmol 2022 Nov-Dec;67(6):1603-1630. Epub 2022 Mar 31 doi: 10.1016/j.survophthal.2022.03.007. PMID: 35367479
Ness S, Subramanian ML, Chen X, Siegel NH
Surv Ophthalmol 2022 Jul-Aug;67(4):892-907. Epub 2021 Dec 8 doi: 10.1016/j.survophthal.2021.12.004. PMID: 34896193
Jain M, Gopal L, Padhi TR
Eye (Lond) 2021 Sep;35(9):2458-2467. Epub 2021 Apr 19 doi: 10.1038/s41433-021-01518-w. PMID: 33875828Free PMC Article
Weisschuh N, Obermaier CD, Battke F, Bernd A, Kuehlewein L, Nasser F, Zobor D, Zrenner E, Weber E, Wissinger B, Biskup S, Stingl K, Kohl S
Hum Mutat 2020 Sep;41(9):1514-1527. Epub 2020 Jun 29 doi: 10.1002/humu.24064. PMID: 32531858
Rahman N, Georgiou M, Khan KN, Michaelides M
Br J Ophthalmol 2020 Apr;104(4):451-460. Epub 2019 Nov 8 doi: 10.1136/bjophthalmol-2019-315086. PMID: 31704701Free PMC Article

Diagnosis

Ku CA, Wei LW, Sieving PA
Cold Spring Harb Perspect Med 2023 Sep 1;13(9) doi: 10.1101/cshperspect.a041288. PMID: 36690462Free PMC Article
Ness S, Subramanian ML, Chen X, Siegel NH
Surv Ophthalmol 2022 Jul-Aug;67(4):892-907. Epub 2021 Dec 8 doi: 10.1016/j.survophthal.2021.12.004. PMID: 34896193
Dubey D, Azad SV
Indian J Ophthalmol 2020 Jan;68(1):215. doi: 10.4103/ijo.IJO_1521_19. PMID: 31856528Free PMC Article
Carr ER
Clin Exp Optom 2020 Sep;103(5):583-589. Epub 2019 Oct 29 doi: 10.1111/cxo.12977. PMID: 31663163
Altschwager P, Ambrosio L, Swanson EA, Moskowitz A, Fulton AB
Semin Pediatr Neurol 2017 May;24(2):104-109. Epub 2017 May 23 doi: 10.1016/j.spen.2017.05.005. PMID: 28941524Free PMC Article

Therapy

Cheong KX, Xu L, Ohno-Matsui K, Sabanayagam C, Saw SM, Hoang QV
Surv Ophthalmol 2022 Nov-Dec;67(6):1603-1630. Epub 2022 Mar 31 doi: 10.1016/j.survophthal.2022.03.007. PMID: 35367479
Vijayasarathy C, Sardar Pasha SPB, Sieving PA
Prog Retin Eye Res 2022 Mar;87:100999. Epub 2021 Aug 11 doi: 10.1016/j.preteyeres.2021.100999. PMID: 34390869
Mendell JR, Al-Zaidy SA, Rodino-Klapac LR, Goodspeed K, Gray SJ, Kay CN, Boye SL, Boye SE, George LA, Salabarria S, Corti M, Byrne BJ, Tremblay JP
Mol Ther 2021 Feb 3;29(2):464-488. Epub 2020 Dec 10 doi: 10.1016/j.ymthe.2020.12.007. PMID: 33309881Free PMC Article
Rahman N, Georgiou M, Khan KN, Michaelides M
Br J Ophthalmol 2020 Apr;104(4):451-460. Epub 2019 Nov 8 doi: 10.1136/bjophthalmol-2019-315086. PMID: 31704701Free 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

Prognosis

Cheong KX, Xu L, Ohno-Matsui K, Sabanayagam C, Saw SM, Hoang QV
Surv Ophthalmol 2022 Nov-Dec;67(6):1603-1630. Epub 2022 Mar 31 doi: 10.1016/j.survophthal.2022.03.007. PMID: 35367479
Georgiou M, Finocchio L, Fujinami K, Fujinami-Yokokawa Y, Virgili G, Mahroo OA, Webster AR, Michaelides M
Ophthalmology 2022 May;129(5):542-551. Epub 2021 Nov 23 doi: 10.1016/j.ophtha.2021.11.019. PMID: 34822951
Carr ER
Clin Exp Optom 2020 Sep;103(5):583-589. Epub 2019 Oct 29 doi: 10.1111/cxo.12977. PMID: 31663163
Gohil R, Sivaprasad S, Han LT, Mathew R, Kiousis G, Yang Y
Eye (Lond) 2015 May;29(5):593-601. Epub 2015 Mar 6 doi: 10.1038/eye.2014.311. PMID: 25744445Free PMC Article
Regillo CD, Custis PH
Curr Opin Ophthalmol 1997 Jun;8(3):80-6. doi: 10.1097/00055735-199706000-00014. PMID: 10168899

Clinical prediction guides

Ku CA, Wei LW, Sieving PA
Cold Spring Harb Perspect Med 2023 Sep 1;13(9) doi: 10.1101/cshperspect.a041288. PMID: 36690462Free PMC Article
Jain M, Gopal L, Padhi TR
Eye (Lond) 2021 Sep;35(9):2458-2467. Epub 2021 Apr 19 doi: 10.1038/s41433-021-01518-w. PMID: 33875828Free PMC Article
Fuente García C, González-López JJ, Muñoz-Negrete FJ, Rebolleda G
Arch Soc Esp Oftalmol (Engl Ed) 2018 Mar;93(3):126-135. Epub 2017 Dec 6 doi: 10.1016/j.oftal.2017.10.006. PMID: 29198644
Mittal K, Chawla R
Ophthalmic Surg Lasers Imaging Retina 2016 Nov 1;47(11):1068. doi: 10.3928/23258160-20161031-14. PMID: 27842204
de Wit GC
Binocul Vis Strabismus Q 2007;22(2):96-101. PMID: 17688418

Recent systematic reviews

Sobh M, Lagali PS, Ghiasi M, Montroy J, Dollin M, Hurley B, Leonard BC, Dimopoulos I, Lafreniere M, Fergusson DA, Lalu MM, Tsilfidis C
Transl Vis Sci Technol 2023 Nov 1;12(11):24. doi: 10.1167/tvst.12.11.24. PMID: 37982768Free PMC Article
Meng L, Zhao X, Zhang W, Wang D, Chen Y
Acta Ophthalmol 2021 Nov;99(7):e1176-e1189. Epub 2021 Jan 9 doi: 10.1111/aos.14730. PMID: 33421324
Grigg JR, Hooper CY, Fraser CL, Cornish EE, McCluskey PJ, Jamieson RV
Eye (Lond) 2020 Oct;34(10):1760-1769. Epub 2020 Apr 20 doi: 10.1038/s41433-020-0848-6. PMID: 32313171Free PMC Article
Meng B, Zhao L, Yin Y, Li H, Wang X, Yang X, You R, Wang J, Zhang Y, Wang H, Du R, Wang N, Zhan S, Wang Y
BMC Ophthalmol 2017 Sep 8;17(1):166. doi: 10.1186/s12886-017-0562-8. PMID: 28886700Free PMC Article
Bhardwaj G, Chowdhury V, Jacobs MB, Moran KT, Martin FJ, Coroneo MT
Ophthalmology 2010 May;117(5):983-992.e17. Epub 2010 Mar 27 doi: 10.1016/j.ophtha.2009.09.040. PMID: 20347153

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