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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

Autologous serum eye drops in dry eye disease: Preferred practice pattern guidelines.
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
Management of inflammation in dry eye disease: Recommendations from a European panel of experts.
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
Evaluation and Management of Hypoparathyroidism Summary Statement and Guidelines from the Second International Workshop.
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

Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.
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
Evaluation of pediatric cataracts and systemic disorders.
Trumler AA
Curr Opin Ophthalmol 2011 Sep;22(5):365-79. doi: 10.1097/ICU.0b013e32834994dc. PMID: 21832913

Diagnosis

Inherited cataracts: molecular genetics, clinical features, disease mechanisms and novel therapeutic approaches.
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
Expanding the clinical phenotype of IARS2-related mitochondrial disease.
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
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.
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
Ocular genetic disease in the Middle East.
Khan AO
Curr Opin Ophthalmol 2013 Sep;24(5):369-78. doi: 10.1097/ICU.0b013e3283638374. PMID: 23846189
Evaluation of pediatric cataracts and systemic disorders.
Trumler AA
Curr Opin Ophthalmol 2011 Sep;22(5):365-79. doi: 10.1097/ICU.0b013e32834994dc. PMID: 21832913

Prognosis

Sonic Hedgehog Intron Variant Associated With an Unusual Pediatric Cortical Cataract.
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
Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).
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
Evaluation of pediatric cataracts and systemic disorders.
Trumler AA
Curr Opin Ophthalmol 2011 Sep;22(5):365-79. doi: 10.1097/ICU.0b013e32834994dc. PMID: 21832913

Clinical prediction guides

Sonic Hedgehog Intron Variant Associated With an Unusual Pediatric Cortical Cataract.
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
Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).
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

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    Reviews

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