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Posterior subcapsular cataract

MedGen UID:
163646
Concept ID:
C0858617
Acquired Abnormality
Synonyms: Cataract, posterior subcapsular; Posterior subcapsular cataracts; Posterior subcapsular lens opacities
SNOMED CT: PSC - posterior subcapsular cataract (315353005); Posterior subcapsular cataract (315353005); Posterior subcapsular lens opacity (315353005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
HPO: HP:0007787
Monarch Initiative: MONDO:0020378
Orphanet: ORPHA98993

Definition

A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule. [from HPO]

Conditions with this feature

Ornithine aminotransferase deficiency
MedGen UID:
6695
Concept ID:
C0018425
Disease or Syndrome
Gyrate atrophy of the choroid and retina (GACR) due to deficiency of ornithine aminotransferase is clinically characterized by a triad of progressive chorioretinal degeneration, early cataract formation, and type II muscle fiber atrophy. Characteristic chorioretinal atrophy with progressive constriction of the visual fields leads to blindness at the latest during the sixth decade of life. Patients generally have normal intelligence (summary by Peltola et al., 2002). See 238970 for another hyperornithinemia syndrome.
Neurofibromatosis, type 2
MedGen UID:
18014
Concept ID:
C0027832
Neoplastic Process
Neurofibromatosis 2 (NF2) is characterized by bilateral vestibular schwannomas with associated symptoms of tinnitus, hearing loss, and balance dysfunction. The average age of onset is 18 to 24 years. Almost all affected individuals develop bilateral vestibular schwannomas by age 30 years. Affected individuals may also develop schwannomas of other cranial and peripheral nerves, meningiomas, ependymomas, and, very rarely, astrocytomas. Because NF2 is considered an adult-onset disease, it may be underrecognized in children, in whom skin tumors and ocular findings (retinal hamartoma, thickened optic nerves, cortical wedge cataracts, third cranial nerve palsy) may be the first manifestations. Mononeuropathy that occurs in childhood is an increasingly recognized finding; it frequently presents as a persistent facial palsy or hand/foot drop.
Hyperkeratosis follicularis in cutem penetrans
MedGen UID:
75516
Concept ID:
C0263382
Disease or Syndrome
Kyrle disease is rare condition that affects the skin. People with this condition generally develop large papules with central keratin (a protein found in the skin, hair and nails) plugs throughout their body. These lesions are typically not painful but may cause severe itching. Although it can affect both men and women throughout life, the average age of onset is 30 years. The cause of the disease is currently unknown; however, it is often associated with certain conditions such as diabetes mellitus, kidney disease, liver abnormalities, and congestive heart failure. In some families, the condition appears to be inherited but an underlying genetic cause has not been identified. Treatment aims to address the associated signs and symptoms and any additional disease that may be present. Lesions often heal spontaneously but new ones continue to develop.
Sponastrime dysplasia
MedGen UID:
266247
Concept ID:
C1300260
Disease or Syndrome
Sponastrime dysplasia is an autosomal recessive spondyloepimetaphyseal dysplasia (SEMD) named for characteristic clinical and radiographic findings, including spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, and striation of the metaphyses. Additional features include disproportionate short stature with exaggerated lumbar lordosis, scoliosis, coxa vara, limited elbow extension, small dysplastic epiphyses, childhood cataracts, short dental roots, and hypogammaglobulinemia. Radiographically, the abnormalities of the lumbar vertebral bodies are suggested to be the most specific finding because the characteristic metaphyseal striations may not be apparent at young ages. Striking clinical variability in presentation, severity, and associated features has been observed (summary by Burrage et al., 2019).
Retinitis pigmentosa 23
MedGen UID:
238456
Concept ID:
C1419610
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the OFD1 gene.
Retinitis pigmentosa 14
MedGen UID:
325056
Concept ID:
C1838603
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the TULP1 gene.
Cataract, ataxia, short stature, and intellectual disability
MedGen UID:
375579
Concept ID:
C1845094
Disease or Syndrome
X-linked intellectual disability-retinitis pigmentosa syndrome
MedGen UID:
336862
Concept ID:
C1845136
Disease or Syndrome
X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.
Cataract 31 multiple types
MedGen UID:
343089
Concept ID:
C1854311
Disease or Syndrome
Mutations in the CHMP4B gene have been found to cause multiple types of cataract, which have been described as posterior polar, progressive posterior subcapsular, nuclear, and anterior subcapsular. The preferred title/symbol of this entry was formerly 'Cataract, Posterior Polar, 3; CTPP3.'
Cataract 1 multiple types
MedGen UID:
349374
Concept ID:
C1861828
Disease or Syndrome
Mutations in the GJA8 gene have been found to cause several types of autosomal dominant cataract, which have been described as congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, stellate nuclear, nuclear total, total, and posterior subcapsular. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the GJA8 gene. Before it was known that mutation in the GJB8 gene caused multiple types of cataract, this entry was titled 'Cataract, zonular pulverulent, 1,' with the symbols CZP1, CZP, and CAE1.
Retinitis pigmentosa 25
MedGen UID:
350427
Concept ID:
C1864446
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the EYS gene.
Retinitis pigmentosa 10
MedGen UID:
357247
Concept ID:
C1867299
Disease or Syndrome
Retinitis pigmentosa-10 (RP10) is characterized in most patients by early onset and rapid progression of ocular symptoms, beginning with night blindness in childhood, followed by visual field constriction. Some patients experience an eventual reduction in visual acuity. Funduscopy shows typical changes of RP, including optic disc pallor, retinal vascular attenuation, and bone-spicule pattern of pigmentary deposits in the retinal midperiphery. Electroretinography demonstrates equal reduction in rod and cone responses (Jordan et al., 1993; Bowne et al., 2002; Bowne et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Retinitis pigmentosa 37
MedGen UID:
410004
Concept ID:
C1970163
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene.
Retinitis pigmentosa 46
MedGen UID:
382614
Concept ID:
C2675496
Disease or Syndrome
Retinitis pigmentosa-46 (RP46) is characterized by night blindness, loss of peripheral vision, and reduced visual acuity. Funduscopic findings are typical of RP, including pale optic discs, attenuated retinal vessels, and intraretinal pigment deposits. Electroretinography shows substantial loss of rod and cone photoreceptor function (Hartong et al., 2008). For a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Myotonic dystrophy type 2
MedGen UID:
419137
Concept ID:
C2931689
Disease or Syndrome
Myotonic dystrophy type 2 (DM2) is characterized by myotonia and muscle dysfunction (proximal and axial weakness, myalgia, and stiffness), and less commonly by posterior subcapsular cataracts, cardiac conduction defects, insulin-insensitive type 2 diabetes mellitus, and other endocrine abnormalities. While myotonia (involuntary muscle contraction with delayed relaxation) has been reported during the first decade, onset is typically in the third to fourth decade, most commonly with fluctuating or episodic muscle pain that can be debilitating and proximal and axial weakness of the neck flexors and the hip flexors. Subsequently, weakness occurs in the elbow extensors and finger flexors. Facial weakness and weakness of the ankle dorsiflexors are less common. Myotonia rarely causes severe symptoms. In a subset of individuals, calf hypertrophy in combination with brisk reflexes is notable.
Retinitis pigmentosa 56
MedGen UID:
462169
Concept ID:
C3150819
Disease or Syndrome
Retinitis pigmentosa-56 (RP56) is an early-onset form of RP with progressive visual-field loss and deterioration of visual acuity (Bandah-Rozenfeld et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Retinitis pigmentosa 43
MedGen UID:
462489
Concept ID:
C3151139
Disease or Syndrome
Retinitis pigmentosa-43 (RP43) is characterized by night blindness in the first decade of life, with progressive loss of peripheral visual fields and reduction in visual acuity. Examination reveals typical features of RP, including waxy pallor of optic disc, attenuated retinal vessels, and bone-spicule pigment in midperipheral retina. Macular edema and/or atrophy has been observed in some patients. Electroretinographic responses are markedly reduced or absent (summary by Huang et al., 1995 and Corton et al., 2010).
Leber congenital amaurosis 15
MedGen UID:
462556
Concept ID:
C3151206
Disease or Syndrome
Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (summary by Gu et al., 1997). Mutation in TULP1 can also cause a form of autosomal recessive retinitis pigmentosa (RP14; 600132). For a general phenotypic description and a discussion of the genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000.
Retinitis pigmentosa 60
MedGen UID:
462784
Concept ID:
C3151434
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF6 gene.
Retinitis pigmentosa 66
MedGen UID:
811638
Concept ID:
C3715216
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the RBP3 gene.
Microcornea-myopic chorioretinal atrophy
MedGen UID:
815897
Concept ID:
C3809567
Disease or Syndrome
Microcornea-myopic chorioretinal atrophy-telecanthus syndrome is rare, genetic, developmental defect of the eye disease characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ecotpia pupilae and retinal detachment.
Progeroid features-hepatocellular carcinoma predisposition syndrome
MedGen UID:
863898
Concept ID:
C4015461
Disease or Syndrome
Ruijs et al. (2003) reported a Moroccan boy with a chromosomal breakage who died of hepatocellular carcinoma at age 17 years. The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years. He underwent surgery for severe bilateral posterior subcapsular cataracts at age 14. Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus. At age 17, he developed abdominal pain, and ultrasonography revealed a liver mass; biopsy confirmed hepatocellular carcinoma. Because of the advanced stage, no treatment was possible, and he died 2 months later. Although his parents were not known to be consanguineous, they originated from the same small Moroccan village. Lessel et al. (2014) studied 2 brothers from a nonconsanguineous Australian family of European ancestry who exhibited low body weight, micrognathia, triangular face, muscular atrophy, lipodystrophy, bilateral simian creases, delayed bone age, and mild joint restrictions in the fingers and elbows. In addition, both brothers developed early-onset hepatocellular carcinoma, at ages 16 and 14 years, respectively. The older brother died at age 18 from complications of acute fulminant hepatic failure. Analysis of patient tumor biopsies showed strong focal accumulations of cancer biomarkers as well as a high proliferative index compared to healthy liver or to cells from idiopathic hepatocellular carcinoma.
Retinitis pigmentosa 72
MedGen UID:
895867
Concept ID:
C4225315
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF408 gene.
Cataract 43
MedGen UID:
901691
Concept ID:
C4225389
Disease or Syndrome
Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the UNC45B gene.
Spondylo-ocular syndrome
MedGen UID:
900371
Concept ID:
C4225412
Disease or Syndrome
Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.
Retinitis pigmentosa 77
MedGen UID:
934593
Concept ID:
C4310626
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the REEP6 gene.
Retinal dystrophy with or without macular staphyloma
MedGen UID:
1381980
Concept ID:
C4479651
Disease or Syndrome
Retinitis pigmentosa with or without situs inversus
MedGen UID:
1658130
Concept ID:
C4747737
Disease or Syndrome
Retinitis pigmentosa-82 with or without situs inversus (RP82) is an autosomal recessive form of retinal degeneration characterized by initial loss of rod photoreceptors, resulting in impaired night vision followed by progressive visual-field constriction as both rod and cone photoreceptors die. Some affected individuals have situs inversus (Davidson et al., 2013; Audo et al., 2017).
Retinitis pigmentosa 83
MedGen UID:
1648404
Concept ID:
C4748536
Disease or Syndrome
Retinitis pigmentosa-83 (RP83) is characterized by onset of night blindness in the first decade of life, with decreased central vision in the second decade of life in association with retinal degeneration. The retinal dystrophy is associated with cataract, and macular edema has also been reported in some patients (Holtan et al., 2019).
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
MedGen UID:
1648358
Concept ID:
C4748658
Disease or Syndrome
Intellectual developmental disorder and retinitis pigmentosa (IDDRP) is characterized by mild to moderate intellectual disability and typical features of RP. Patients experience reduced night vision, constriction of visual fields, and reduced visual acuity; optic disc pallor, attenuated retinal blood vessels, and bone-spicule pigmentation are seen on funduscopy. Attention-deficit/hyperactivity disorder is observed in some patients (Tatour et al., 2017).
Short stature, oligodontia, dysmorphic facies, and motor delay
MedGen UID:
1787876
Concept ID:
C5543206
Disease or Syndrome
SOFM is characterized by marked short stature, oligodontia, mild facial dysmorphism, and motor delay. Endosteal hyperostosis has also been observed, and patients may exhibit some features of progeria (Terhal et al., 2020; Beauregard-Lacroix et al., 2020).

Professional guidelines

PubMed

Teo ZL, Soh ZD, Tham YC, Yu M, Chee ML, Thakur S, Nongpiur ME, Koh V, Wong TY, Aung T, Cheng CY
Ophthalmology 2022 Jul;129(7):792-802. Epub 2022 Mar 16 doi: 10.1016/j.ophtha.2022.03.009. PMID: 35306094
Li H, Lim JH, Liu J, Wong DW, Foo Y, Sun Y, Wong TY
Annu Int Conf IEEE Eng Med Biol Soc 2010;2010:5359-62. doi: 10.1109/IEMBS.2010.5626467. PMID: 21096260
Cumming RG, Mitchell P
Drug Saf 1999 Jan;20(1):77-84. doi: 10.2165/00002018-199920010-00007. PMID: 9935278

Recent clinical studies

Etiology

Mansour AM, Ahmed IIK, Charbaji AR, Mansour HA, El Jawhari KM
Eye (Lond) 2022 Jan;36(1):193-197. Epub 2021 Mar 5 doi: 10.1038/s41433-021-01482-5. PMID: 33674725Free PMC Article
Bullimore MA, Ritchey ER, Shah S, Leveziel N, Bourne RRA, Flitcroft DI
Ophthalmology 2021 Nov;128(11):1561-1579. Epub 2021 May 4 doi: 10.1016/j.ophtha.2021.04.032. PMID: 33961969
Haarman AEG, Enthoven CA, Tideman JWL, Tedja MS, Verhoeven VJM, Klaver CCW
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):49. doi: 10.1167/iovs.61.4.49. PMID: 32347918Free PMC Article
Kačmař J, Cholevík D
Cesk Slov Oftalmol 2019 Summer;74(6):226-232. doi: 10.31348/2018/6/2. PMID: 31238690
Chylack LT Jr, Wolfe JK, Singer DM, Leske MC, Bullimore MA, Bailey IL, Friend J, McCarthy D, Wu SY
Arch Ophthalmol 1993 Jun;111(6):831-6. doi: 10.1001/archopht.1993.01090060119035. PMID: 8512486

Diagnosis

Keenan TDL, Chen Q, Agrón E, Tham YC, Goh JHL, Lei X, Ng YP, Liu Y, Xu X, Cheng CY, Bikbov MM, Jonas JB, Bhandari S, Broadhead GK, Colyer MH, Corsini J, Cousineau-Krieger C, Gensheimer W, Grasic D, Lamba T, Magone MT, Maiberger M, Oshinsky A, Purt B, Shin SY, Thavikulwat AT, Lu Z, Chew EY; AREDS Deep Learning Research Group
Ophthalmology 2022 May;129(5):571-584. Epub 2022 Jan 3 doi: 10.1016/j.ophtha.2021.12.017. PMID: 34990643Free PMC Article
Mansour AM, Ahmed IIK, Charbaji AR, Mansour HA, El Jawhari KM
Eye (Lond) 2022 Jan;36(1):193-197. Epub 2021 Mar 5 doi: 10.1038/s41433-021-01482-5. PMID: 33674725Free PMC Article
Haarman AEG, Enthoven CA, Tideman JWL, Tedja MS, Verhoeven VJM, Klaver CCW
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):49. doi: 10.1167/iovs.61.4.49. PMID: 32347918Free PMC Article
Kačmař J, Cholevík D
Cesk Slov Oftalmol 2019 Summer;74(6):226-232. doi: 10.31348/2018/6/2. PMID: 31238690
Li J, Tripathi RC, Tripathi BJ
Drug Saf 2008;31(2):127-41. doi: 10.2165/00002018-200831020-00003. PMID: 18217789

Therapy

Zhang S, Chen J, Yang F, Xu B, Tang Y, Lu Y
Br J Ophthalmol 2023 May;107(5):683-689. Epub 2022 Jan 27 doi: 10.1136/bjophthalmol-2021-319991. PMID: 35086805
Haarman AEG, Enthoven CA, Tideman JWL, Tedja MS, Verhoeven VJM, Klaver CCW
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):49. doi: 10.1167/iovs.61.4.49. PMID: 32347918Free PMC Article
Kačmař J, Cholevík D
Cesk Slov Oftalmol 2019 Summer;74(6):226-232. doi: 10.31348/2018/6/2. PMID: 31238690
Yam JC, Kwok AK
Int Ophthalmol 2014 Apr;34(2):383-400. Epub 2013 May 31 doi: 10.1007/s10792-013-9791-x. PMID: 23722672
Li J, Tripathi RC, Tripathi BJ
Drug Saf 2008;31(2):127-41. doi: 10.2165/00002018-200831020-00003. PMID: 18217789

Prognosis

Bullimore MA, Ritchey ER, Shah S, Leveziel N, Bourne RRA, Flitcroft DI
Ophthalmology 2021 Nov;128(11):1561-1579. Epub 2021 May 4 doi: 10.1016/j.ophtha.2021.04.032. PMID: 33961969
Haarman AEG, Enthoven CA, Tideman JWL, Tedja MS, Verhoeven VJM, Klaver CCW
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):49. doi: 10.1167/iovs.61.4.49. PMID: 32347918Free PMC Article
Neumayer T, Hirnschall N, Georgopoulos M, Findl O
Curr Eye Res 2017 Dec;42(12):1604-1607. Epub 2017 Oct 19 doi: 10.1080/02713683.2017.1343852. PMID: 29048240
Fujiwara K, Ikeda Y, Murakami Y, Funatsu J, Nakatake S, Tachibana T, Yoshida N, Nakao S, Hisatomi T, Yoshida S, Yoshitomi T, Ishibashi T, Sonoda KH
Invest Ophthalmol Vis Sci 2017 May 1;58(5):2534-2537. doi: 10.1167/iovs.17-21612. PMID: 28492871
Hsuan JD, Brown NA, Bron AJ, Patel CK, Rosen PH
J Cataract Refract Surg 2001 Mar;27(3):437-44. doi: 10.1016/s0886-3350(00)00585-x. PMID: 11255058

Clinical prediction guides

He M, Wu T, Zhang L, Ye W, Ma J, Zhao C, Liu J, Zhou J
Acta Ophthalmol 2022 Feb;100(1):e278-e287. Epub 2021 Jun 2 doi: 10.1111/aos.14880. PMID: 34080305
Mansour AM, Ahmed IIK, Charbaji AR, Mansour HA, El Jawhari KM
Eye (Lond) 2022 Jan;36(1):193-197. Epub 2021 Mar 5 doi: 10.1038/s41433-021-01482-5. PMID: 33674725Free PMC Article
Bullimore MA, Ritchey ER, Shah S, Leveziel N, Bourne RRA, Flitcroft DI
Ophthalmology 2021 Nov;128(11):1561-1579. Epub 2021 May 4 doi: 10.1016/j.ophtha.2021.04.032. PMID: 33961969
Kačmař J, Cholevík D
Cesk Slov Oftalmol 2019 Summer;74(6):226-232. doi: 10.31348/2018/6/2. PMID: 31238690
Chylack LT Jr, Wolfe JK, Singer DM, Leske MC, Bullimore MA, Bailey IL, Friend J, McCarthy D, Wu SY
Arch Ophthalmol 1993 Jun;111(6):831-6. doi: 10.1001/archopht.1993.01090060119035. PMID: 8512486

Recent systematic reviews

Khojasteh H, Riazi-Esfahani H, Mirghorbani M, Khalili Pour E, Mahmoudi A, Mahdizad Z, Akhavanrezayat A, Ghoraba H, Do DV, Nguyen QD
J Cataract Refract Surg 2023 Mar 1;49(3):312-320. Epub 2022 Nov 21 doi: 10.1097/j.jcrs.0000000000001101. PMID: 36730350Free PMC Article
Haarman AEG, Enthoven CA, Tideman JWL, Tedja MS, Verhoeven VJM, Klaver CCW
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):49. doi: 10.1167/iovs.61.4.49. PMID: 32347918Free PMC Article
Valenzuela CV, Liu JC, Vila PM, Simon L, Doering M, Lieu JEC
Laryngoscope 2019 Jan;129(1):6-12. Epub 2018 Sep 19 doi: 10.1002/lary.27209. PMID: 30229924Free PMC Article
Modenese A, Gobba F
Acta Ophthalmol 2018 Dec;96(8):779-788. Epub 2018 Apr 16 doi: 10.1111/aos.13734. PMID: 29682903Free PMC Article
Hammer GP, Scheidemann-Wesp U, Samkange-Zeeb F, Wicke H, Neriishi K, Blettner M
Radiat Environ Biophys 2013 Aug;52(3):303-19. Epub 2013 Jun 27 doi: 10.1007/s00411-013-0477-6. PMID: 23807741

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