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Genetic central nervous system and retinal vascular disease

MedGen UID:
1842273
Concept ID:
C5681839
Disease or Syndrome
Orphanet: ORPHA183503

Professional guidelines

PubMed

Vasile P, Valeria C, Speranţa S, Cătălina II, Miruna GB, Maria C, Dana MCD
Rom J Ophthalmol 2021 Jan-Mar;65(1):15-19. doi: 10.22336/rjo.2021.4. PMID: 33817428Free PMC Article
Reich M, Jaegle S, Neumann-Haefelin E, Klingler JH, Evers C, Daniel M, Bucher F, Ludwig F, Nuessle S, Kopp J, Boehringer D, Reinhard T, Lagrèze WA, Lange C, Agostini H, Lang SJ
Acta Ophthalmol 2021 Dec;99(8):e1492-e1500. Epub 2021 Mar 15 doi: 10.1111/aos.14843. PMID: 33720516
Frost S, Bhuiyan A, Offerman D, Doecke JD, Macaulay SL, Sohrabi HR, Ames D, Masters C, Martins RN, Kanagasingam Y, Group AR
Curr Alzheimer Res 2017;14(9):916-923. doi: 10.2174/1567205014666170309115016. PMID: 28290247

Recent clinical studies

Etiology

Romahn EF, Wiltgen T, Bussas M, Aly L, Wicklein R, Noll C, Berthele A, Dehmelt V, Mardin C, Zimmer C, Korn T, Hemmer B, Kirschke JS, Mühlau M, Knier B
Front Immunol 2023;14:1284986. Epub 2023 Nov 28 doi: 10.3389/fimmu.2023.1284986. PMID: 38090586Free PMC Article
Jonasch E, Donskov F, Iliopoulos O, Rathmell WK, Narayan VK, Maughan BL, Oudard S, Else T, Maranchie JK, Welsh SJ, Thamake S, Park EK, Perini RF, Linehan WM, Srinivasan R; MK-6482-004 Investigators
N Engl J Med 2021 Nov 25;385(22):2036-2046. doi: 10.1056/NEJMoa2103425. PMID: 34818478Free PMC Article
Bersano A, Kraemer M, Burlina A, Mancuso M, Finsterer J, Sacco S, Salvarani C, Caputi L, Chabriat H, Oberstein SL, Federico A, Lasserve ET, Hunt D, Dichgans M, Arnold M, Debette S, Markus HS
J Neurol 2021 Aug;268(8):2780-2807. Epub 2020 Apr 21 doi: 10.1007/s00415-020-09836-x. PMID: 32318851
Soto I, Krebs MP, Reagan AM, Howell GR
Annu Rev Vis Sci 2019 Sep 15;5:99-122. Epub 2019 Jun 21 doi: 10.1146/annurev-vision-091517-034416. PMID: 31226014
Barontini M, Dahia PL
Best Pract Res Clin Endocrinol Metab 2010 Jun;24(3):401-13. doi: 10.1016/j.beem.2010.01.002. PMID: 20833332

Diagnosis

Bersano A, Kraemer M, Burlina A, Mancuso M, Finsterer J, Sacco S, Salvarani C, Caputi L, Chabriat H, Oberstein SL, Federico A, Lasserve ET, Hunt D, Dichgans M, Arnold M, Debette S, Markus HS
J Neurol 2021 Aug;268(8):2780-2807. Epub 2020 Apr 21 doi: 10.1007/s00415-020-09836-x. PMID: 32318851
Chittiboina P, Lonser RR
Handb Clin Neurol 2015;132:139-56. doi: 10.1016/B978-0-444-62702-5.00010-X. PMID: 26564077Free PMC Article
Ben-Skowronek I, Kozaczuk S
Horm Res Paediatr 2015;84(3):145-52. Epub 2015 Aug 5 doi: 10.1159/000431323. PMID: 26279462
Singh AD, Shields CL, Shields JA
Surv Ophthalmol 2001 Sep-Oct;46(2):117-42. doi: 10.1016/s0039-6257(01)00245-4. PMID: 11578646
Maher ER, Kaelin WG Jr
Medicine (Baltimore) 1997 Nov;76(6):381-91. doi: 10.1097/00005792-199711000-00001. PMID: 9413424

Therapy

Jonasch E, Donskov F, Iliopoulos O, Rathmell WK, Narayan VK, Maughan BL, Oudard S, Else T, Maranchie JK, Welsh SJ, Thamake S, Park EK, Perini RF, Linehan WM, Srinivasan R; MK-6482-004 Investigators
N Engl J Med 2021 Nov 25;385(22):2036-2046. doi: 10.1056/NEJMoa2103425. PMID: 34818478Free PMC Article
Berdugo M, Delaunay K, Naud MC, Guegan J, Moulin A, Savoldelli M, Picard E, Radet L, Jonet L, Djerada Z, Gozalo C, Daruich A, Beltrand J, Jeanny JC, Kermorvant-Duchemin E, Crisanti P, Polak M, Behar-Cohen F
Transl Res 2021 Mar;229:83-99. Epub 2020 Oct 17 doi: 10.1016/j.trsl.2020.10.003. PMID: 33080394
Capitanio JF, Mazza E, Motta M, Mortini P, Reni M
Crit Rev Oncol Hematol 2013 Apr;86(1):69-84. Epub 2012 Nov 11 doi: 10.1016/j.critrevonc.2012.10.001. PMID: 23148943
Birch DG, Liang FQ
Int J Nanomedicine 2007;2(1):65-77. doi: 10.2147/nano.2007.2.1.65. PMID: 17722514Free PMC Article
Thompson HS
Arch Ophthalmol 1971 Oct;86(4):462-82. doi: 10.1001/archopht.1971.01000010464021. PMID: 4329269

Prognosis

Romahn EF, Wiltgen T, Bussas M, Aly L, Wicklein R, Noll C, Berthele A, Dehmelt V, Mardin C, Zimmer C, Korn T, Hemmer B, Kirschke JS, Mühlau M, Knier B
Front Immunol 2023;14:1284986. Epub 2023 Nov 28 doi: 10.3389/fimmu.2023.1284986. PMID: 38090586Free PMC Article
Jonasch E, Donskov F, Iliopoulos O, Rathmell WK, Narayan VK, Maughan BL, Oudard S, Else T, Maranchie JK, Welsh SJ, Thamake S, Park EK, Perini RF, Linehan WM, Srinivasan R; MK-6482-004 Investigators
N Engl J Med 2021 Nov 25;385(22):2036-2046. doi: 10.1056/NEJMoa2103425. PMID: 34818478Free PMC Article
Wójciak P, Stopa M, Rybakowski F
Psychiatr Pol 2020 Aug 31;54(4):673-686. doi: 10.12740/PP/114952. PMID: 33386720
Ben-Skowronek I, Kozaczuk S
Horm Res Paediatr 2015;84(3):145-52. Epub 2015 Aug 5 doi: 10.1159/000431323. PMID: 26279462
Kolar GR, Kothari PH, Khanlou N, Jen JC, Schmidt RE, Vinters HV
Brain Pathol 2014 Sep;24(5):510-8. doi: 10.1111/bpa.12178. PMID: 25323666Free PMC Article

Clinical prediction guides

Cao Q, Yang S, Wang X, Sun H, Chen W, Wang Y, Gao J, Wu Y, Yang Q, Chen X, Yuan S, Xiao M, Nedergaard M, Huo Y, Liu Q
J Exp Med 2024 Nov 4;221(11) Epub 2024 Sep 24 doi: 10.1084/jem.20240386. PMID: 39316084Free PMC Article
Chauvin SD, Ando S, Holley JA, Sugie A, Zhao FR, Poddar S, Kato R, Miner CA, Nitta Y, Krishnamurthy SR, Saito R, Ning Y, Hatano Y, Kitahara S, Koide S, Stinson WA, Fu J, Surve N, Kumble L, Qian W, Polishchuk O, Andhey PS, Chiang C, Liu G, Colombeau L, Rodriguez R, Manel N, Kakita A, Artyomov MN, Schultz DC, Coates PT, Roberson EDO, Belkaid Y, Greenberg RA, Cherry S, Gack MU, Hardy T, Onodera O, Kato T, Miner JJ
Nat Commun 2024 Jun 1;15(1):4696. doi: 10.1038/s41467-024-49066-7. PMID: 38824133Free PMC Article
Romahn EF, Wiltgen T, Bussas M, Aly L, Wicklein R, Noll C, Berthele A, Dehmelt V, Mardin C, Zimmer C, Korn T, Hemmer B, Kirschke JS, Mühlau M, Knier B
Front Immunol 2023;14:1284986. Epub 2023 Nov 28 doi: 10.3389/fimmu.2023.1284986. PMID: 38090586Free PMC Article
Jonasch E, Donskov F, Iliopoulos O, Rathmell WK, Narayan VK, Maughan BL, Oudard S, Else T, Maranchie JK, Welsh SJ, Thamake S, Park EK, Perini RF, Linehan WM, Srinivasan R; MK-6482-004 Investigators
N Engl J Med 2021 Nov 25;385(22):2036-2046. doi: 10.1056/NEJMoa2103425. PMID: 34818478Free PMC Article
Singh AD, Shields CL, Shields JA
Surv Ophthalmol 2001 Sep-Oct;46(2):117-42. doi: 10.1016/s0039-6257(01)00245-4. PMID: 11578646

Recent systematic reviews

Søndergaard CB, Nielsen JE, Hansen CK, Christensen H
Clin Neurol Neurosurg 2017 Apr;155:45-57. Epub 2017 Feb 22 doi: 10.1016/j.clineuro.2017.02.015. PMID: 28254515

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