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Syndromic cataract

MedGen UID:
1842478
Concept ID:
C5681668
Anatomical Abnormality
Orphanet: ORPHA98641

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSyndromic cataract

Professional guidelines

PubMed

Vazirani J, Sridhar U, Gokhale N, Doddigarla VR, Sharma S, Basu S
Indian J Ophthalmol 2023 Apr;71(4):1357-1363. doi: 10.4103/IJO.IJO_2756_22. PMID: 37026267Free PMC Article
Messmer EM, Ahmad S, Benitez Del Castillo JM, Mrukwa-Kominek E, Rolando M, Vitovska O, Baudouin C; a panel of European dry eye disease experts
Eur J Ophthalmol 2023 May;33(3):1294-1307. Epub 2022 Dec 5 doi: 10.1177/11206721221141481. PMID: 36471573Free PMC Article
Khan AA, Bilezikian JP, Brandi ML, Clarke BL, Gittoes NJ, Pasieka JL, Rejnmark L, Shoback DM, Potts JT, Guyatt GH, Mannstadt M
J Bone Miner Res 2022 Dec;37(12):2568-2585. Epub 2022 Nov 14 doi: 10.1002/jbmr.4691. PMID: 36054621

Recent clinical studies

Etiology

Patel N, Anand D, Monies D, Maddirevula S, Khan AO, Algoufi T, Alowain M, Faqeih E, Alshammari M, Qudair A, Alsharif H, Aljubran F, Alsaif HS, Ibrahim N, Abdulwahab FM, Hashem M, Alsedairy H, Aldahmesh MA, Lachke SA, Alkuraya FS
Hum Genet 2017 Feb;136(2):205-225. Epub 2016 Nov 22 doi: 10.1007/s00439-016-1747-6. PMID: 27878435Free PMC Article
Trumler AA
Curr Opin Ophthalmol 2011 Sep;22(5):365-79. doi: 10.1097/ICU.0b013e32834994dc. PMID: 21832913

Diagnosis

Berry V, Georgiou M, Fujinami K, Quinlan R, Moore A, Michaelides M
Br J Ophthalmol 2020 Oct;104(10):1331-1337. Epub 2020 Mar 25 doi: 10.1136/bjophthalmol-2019-315282. PMID: 32217542
Vona B, Maroofian R, Bellacchio E, Najafi M, Thompson K, Alahmad A, He L, Ahangari N, Rad A, Shahrokhzadeh S, Bahena P, Mittag F, Traub F, Movaffagh J, Amiri N, Doosti M, Boostani R, Shirzadeh E, Haaf T, Diodato D, Schmidts M, Taylor RW, Karimiani EG
BMC Med Genet 2018 Nov 12;19(1):196. doi: 10.1186/s12881-018-0709-3. PMID: 30419932Free PMC Article
Patel N, Anand D, Monies D, Maddirevula S, Khan AO, Algoufi T, Alowain M, Faqeih E, Alshammari M, Qudair A, Alsharif H, Aljubran F, Alsaif HS, Ibrahim N, Abdulwahab FM, Hashem M, Alsedairy H, Aldahmesh MA, Lachke SA, Alkuraya FS
Hum Genet 2017 Feb;136(2):205-225. Epub 2016 Nov 22 doi: 10.1007/s00439-016-1747-6. PMID: 27878435Free PMC Article
Khan AO
Curr Opin Ophthalmol 2013 Sep;24(5):369-78. doi: 10.1097/ICU.0b013e3283638374. PMID: 23846189
Trumler AA
Curr Opin Ophthalmol 2011 Sep;22(5):365-79. doi: 10.1097/ICU.0b013e32834994dc. PMID: 21832913

Prognosis

Young TL, Whisenhunt KN, LaMartina SM, Hewitt AW, Mackey DA, Tompson SW
Invest Ophthalmol Vis Sci 2022 Jun 1;63(6):25. doi: 10.1167/iovs.63.6.25. PMID: 35749127Free PMC Article
Javadiyan S, Craig JE, Sharma S, Lower KM, Casey T, Haan E, Souzeau E, Burdon KP
BMC Med Genet 2017 May 8;18(1):52. doi: 10.1186/s12881-017-0414-7. PMID: 28482824Free PMC Article
Trumler AA
Curr Opin Ophthalmol 2011 Sep;22(5):365-79. doi: 10.1097/ICU.0b013e32834994dc. PMID: 21832913

Clinical prediction guides

Young TL, Whisenhunt KN, LaMartina SM, Hewitt AW, Mackey DA, Tompson SW
Invest Ophthalmol Vis Sci 2022 Jun 1;63(6):25. doi: 10.1167/iovs.63.6.25. PMID: 35749127Free PMC Article
Javadiyan S, Craig JE, Sharma S, Lower KM, Casey T, Haan E, Souzeau E, Burdon KP
BMC Med Genet 2017 May 8;18(1):52. doi: 10.1186/s12881-017-0414-7. PMID: 28482824Free PMC Article

Supplemental Content

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    Clinical resources

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