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Musculoskeletal disease with cataract

MedGen UID:
1843132
Concept ID:
C5681664
Disease or Syndrome
Orphanet: ORPHA98648

Professional guidelines

PubMed

Amescua G, Ahmad S, Cheung AY, Choi DS, Jhanji V, Lin A, Mian SI, Rhee MK, Viriya ET, Mah FS, Varu DM; American Academy of Ophthalmology Preferred Practice Pattern Cornea/External Disease Panel
Ophthalmology 2024 Apr;131(4):P1-P49. Epub 2024 Feb 12 doi: 10.1016/j.ophtha.2023.12.041. PMID: 38349301
Jaeken J, Lefeber DJ, Matthijs G
Eur J Hum Genet 2020 Sep;28(9):1297-1300. Epub 2020 May 18 doi: 10.1038/s41431-020-0647-3. PMID: 32424323Free PMC Article
Matthews E, Brassington R, Kuntzer T, Jichi F, Manzur AY
Cochrane Database Syst Rev 2016 May 5;2016(5):CD003725. doi: 10.1002/14651858.CD003725.pub4. PMID: 27149418Free PMC Article

Recent clinical studies

Etiology

van Meerwijk C, Kuiper J, van Straalen J, Ayuso VK, Wennink R, Haasnoot AM, Kouwenberg C, de Boer J
Ocul Immunol Inflamm 2023 Dec;31(10):1906-1914. Epub 2023 Dec 14 doi: 10.1080/09273948.2023.2278060. PMID: 37966463
Khalid T, Inam F, Iqbal MA
Dermatol Online J 2022 Aug 15;28(4) doi: 10.5070/D328458520. PMID: 36259858
Larsson SC, Burgess S
EBioMedicine 2022 Aug;82:104154. Epub 2022 Jul 8 doi: 10.1016/j.ebiom.2022.104154. PMID: 35816897Free PMC Article
Newman CB, Preiss D, Tobert JA, Jacobson TA, Page RL 2nd, Goldstein LB, Chin C, Tannock LR, Miller M, Raghuveer G, Duell PB, Brinton EA, Pollak A, Braun LT, Welty FK; American Heart Association Clinical Lipidology, Lipoprotein, Metabolism and Thrombosis Committee, a Joint Committee of the Council on Atherosclerosis, Thrombosis and Vascular Biology and Council on Lifestyle and Cardiometabolic Health; Council on Cardiovascular Disease in the Young; Council on Clinical Cardiology; and Stroke Council
Arterioscler Thromb Vasc Biol 2019 Feb;39(2):e38-e81. doi: 10.1161/ATV.0000000000000073. PMID: 30580575
Sen ES, Dick AD, Ramanan AV
Nat Rev Rheumatol 2015 Jun;11(6):338-48. Epub 2015 Mar 31 doi: 10.1038/nrrheum.2015.20. PMID: 25825278

Diagnosis

van Meerwijk C, Kuiper J, van Straalen J, Ayuso VK, Wennink R, Haasnoot AM, Kouwenberg C, de Boer J
Ocul Immunol Inflamm 2023 Dec;31(10):1906-1914. Epub 2023 Dec 14 doi: 10.1080/09273948.2023.2278060. PMID: 37966463
Grajewski RS, Koch KR, Koch HR, Ciotu IM, Cursiefen C, Heindl LM
J Cataract Refract Surg 2016 Jul;42(7):1094-6. doi: 10.1016/j.jcrs.2016.06.007. PMID: 27492110
Thornton CA
Neurol Clin 2014 Aug;32(3):705-19, viii. Epub 2014 Jun 6 doi: 10.1016/j.ncl.2014.04.011. PMID: 25037086Free PMC Article
Thornton C
Semin Neurol 1999;19(1):25-33. doi: 10.1055/s-2008-1040823. PMID: 10711986
Jozefowicz RF, Griggs RC
Neurol Clin 1988 Aug;6(3):455-72. PMID: 3065594

Therapy

Larsson SC, Burgess S
EBioMedicine 2022 Aug;82:104154. Epub 2022 Jul 8 doi: 10.1016/j.ebiom.2022.104154. PMID: 35816897Free PMC Article
Newman CB, Preiss D, Tobert JA, Jacobson TA, Page RL 2nd, Goldstein LB, Chin C, Tannock LR, Miller M, Raghuveer G, Duell PB, Brinton EA, Pollak A, Braun LT, Welty FK; American Heart Association Clinical Lipidology, Lipoprotein, Metabolism and Thrombosis Committee, a Joint Committee of the Council on Atherosclerosis, Thrombosis and Vascular Biology and Council on Lifestyle and Cardiometabolic Health; Council on Cardiovascular Disease in the Young; Council on Clinical Cardiology; and Stroke Council
Arterioscler Thromb Vasc Biol 2019 Feb;39(2):e38-e81. doi: 10.1161/ATV.0000000000000073. PMID: 30580575
Kasturi S, Sammaritano LR
Rheum Dis Clin North Am 2016 Feb;42(1):47-62, viii. doi: 10.1016/j.rdc.2015.08.007. PMID: 26611550
Sirtori CR
Pharmacol Res 2014 Oct;88:3-11. Epub 2014 Mar 20 doi: 10.1016/j.phrs.2014.03.002. PMID: 24657242
Maeda SS, Fortes EM, Oliveira UM, Borba VC, Lazaretti-Castro M
Arq Bras Endocrinol Metabol 2006 Aug;50(4):664-73. doi: 10.1590/s0004-27302006000400012. PMID: 17117292

Prognosis

Im PK, Wright N, Yang L, Chan KH, Chen Y, Guo Y, Du H, Yang X, Avery D, Wang S, Yu C, Lv J, Clarke R, Chen J, Collins R, Walters RG, Peto R, Li L, Chen Z, Millwood IY; China Kadoorie Biobank Collaborative Group
Nat Med 2023 Jun;29(6):1476-1486. Epub 2023 Jun 8 doi: 10.1038/s41591-023-02383-8. PMID: 37291211Free PMC Article
Kasturi S, Sammaritano LR
Rheum Dis Clin North Am 2016 Feb;42(1):47-62, viii. doi: 10.1016/j.rdc.2015.08.007. PMID: 26611550
Dursun F, Güven A, Morris-Rosendahl D
J Pediatr Endocrinol Metab 2012;25(3-4):379-82. doi: 10.1515/jpem-2011-0459. PMID: 22768674
Zaborowski AG, Quinn AG, Dick AD
J Pediatr Ophthalmol Strabismus 2008 Sep-Oct;45(5):270-8. doi: 10.3928/01913913-20080901-16. PMID: 18825900
Nicholson AD, Menon S
J Postgrad Med 1995 Jan-Mar;41(1):22-3. PMID: 10740699

Clinical prediction guides

Khalid T, Inam F, Iqbal MA
Dermatol Online J 2022 Aug 15;28(4) doi: 10.5070/D328458520. PMID: 36259858
Newman CB, Preiss D, Tobert JA, Jacobson TA, Page RL 2nd, Goldstein LB, Chin C, Tannock LR, Miller M, Raghuveer G, Duell PB, Brinton EA, Pollak A, Braun LT, Welty FK; American Heart Association Clinical Lipidology, Lipoprotein, Metabolism and Thrombosis Committee, a Joint Committee of the Council on Atherosclerosis, Thrombosis and Vascular Biology and Council on Lifestyle and Cardiometabolic Health; Council on Cardiovascular Disease in the Young; Council on Clinical Cardiology; and Stroke Council
Arterioscler Thromb Vasc Biol 2019 Feb;39(2):e38-e81. doi: 10.1161/ATV.0000000000000073. PMID: 30580575
Matthews E, Brassington R, Kuntzer T, Jichi F, Manzur AY
Cochrane Database Syst Rev 2016 May 5;2016(5):CD003725. doi: 10.1002/14651858.CD003725.pub4. PMID: 27149418Free PMC Article
Sen ES, Dick AD, Ramanan AV
Nat Rev Rheumatol 2015 Jun;11(6):338-48. Epub 2015 Mar 31 doi: 10.1038/nrrheum.2015.20. PMID: 25825278
Zaborowski AG, Quinn AG, Dick AD
J Pediatr Ophthalmol Strabismus 2008 Sep-Oct;45(5):270-8. doi: 10.3928/01913913-20080901-16. PMID: 18825900

Recent systematic reviews

Vision Loss Expert Group of the Global Burden of Disease Study; GBD 2019 Blindness and Vision Impairment Collaborators
Eye (Lond) 2024 Aug;38(11):2156-2172. doi: 10.1038/s41433-024-02961-1. PMID: 38461217Free PMC Article
Wu CW, Caha M, Smoot L, Harris DJ, Roberts AE, Sacharow S, Bodamer O
Mol Genet Metab 2023 Jul;139(3):107626. Epub 2023 Jun 10 doi: 10.1016/j.ymgme.2023.107626. PMID: 37354892
Larsson SC, Burgess S
EBioMedicine 2022 Aug;82:104154. Epub 2022 Jul 8 doi: 10.1016/j.ebiom.2022.104154. PMID: 35816897Free PMC Article
Dammacco R, Guerriero S, Alessio G, Dammacco F
Int Ophthalmol 2022 Feb;42(2):689-711. Epub 2021 Nov 21 doi: 10.1007/s10792-021-02058-8. PMID: 34802085Free PMC Article
Matthews E, Brassington R, Kuntzer T, Jichi F, Manzur AY
Cochrane Database Syst Rev 2016 May 5;2016(5):CD003725. doi: 10.1002/14651858.CD003725.pub4. PMID: 27149418Free PMC Article

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