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Cataract 18(CATC2)

MedGen UID:
351249
•Concept ID:
C1864908
•
Disease or Syndrome
Synonyms: CATARACT 18, AUTOSOMAL RECESSIVE; Cataract, autosomal recessive congenital 2; CATC2
 
Gene (location): FYCO1 (3p21.31)
 
Monarch Initiative: MONDO:0012395
OMIM®: 610019

Definition

Mutations in the FYCO1 gene have been identified in families with autosomal recessive cataract described as congenital and congenital nuclear. The preferred title/symbol of this entry was formerly 'Cataract, Autosomal Recessive Congenital 2; CATC2.' [from OMIM]

Clinical features

From HPO
Nuclear cataract
MedGen UID:
140274
•Concept ID:
C0392557
•
Finding
A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Conservative management of suspicious melanocytic lesions of the iris.
Oxenreiter MM, Lane AM, Jain P, Kim IK, Gragoudas ES
Graefes Arch Clin Exp Ophthalmol 2019 Jun;257(6):1319-1324. Epub 2019 Mar 27 doi: 10.1007/s00417-019-04296-0. PMID: 30919077
Treatment of intractable posterior uveitis in pediatric patients with the fluocinolone acetonide intravitreal implant (Retisert).
Patel CC, Mandava N, Oliver SC, Braverman R, Quiroz-Mercado H, Olson JL
Retina 2012 Mar;32(3):537-42. doi: 10.1097/IAE.0b013e31822058bb. PMID: 21963487

Recent clinical studies

Etiology

The association between cataract and incidence of cognitive impairment in older adults: A systematic review and meta-analysis.
Xiong Z, Li X, Yang D, Xiong C, Xu Q, Zhou Q
Behav Brain Res 2023 Jul 26;450:114455. Epub 2023 May 4 doi: 10.1016/j.bbr.2023.114455. PMID: 37148915
Association of Diabetes Medication With Open-Angle Glaucoma, Age-Related Macular Degeneration, and Cataract in the Rotterdam Study.
Vergroesen JE, Thee EF, Ahmadizar F, van Duijn CM, Stricker BH, Kavousi M, Klaver CCW, Ramdas WD
JAMA Ophthalmol 2022 Jul 1;140(7):674-681. doi: 10.1001/jamaophthalmol.2022.1435. PMID: 35587864Free PMC Article
The Complications of Myopia: A Review and Meta-Analysis.
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
Vici syndrome: a review.
Byrne S, Dionisi-Vici C, Smith L, Gautel M, Jungbluth H
Orphanet J Rare Dis 2016 Feb 29;11:21. doi: 10.1186/s13023-016-0399-x. PMID: 26927810Free PMC Article
Diabetes and cataract surgery: preoperative risk factors and positive nursing interventions.
Lara-Smalling A, Cakiner-Egilmez T
Insight 2014 Spring;39(2):18-20. PMID: 24847564

Diagnosis

DeepLensNet: Deep Learning Automated Diagnosis and Quantitative Classification of Cataract Type and Severity.
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
The Complications of Myopia: A Review and Meta-Analysis.
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
Carotenoids in human nutrition and health.
Eggersdorfer M, Wyss A
Arch Biochem Biophys 2018 Aug 15;652:18-26. Epub 2018 Jun 6 doi: 10.1016/j.abb.2018.06.001. PMID: 29885291
Astigmatism evaluation prior to cataract surgery.
Gupta PC, Caty JT
Curr Opin Ophthalmol 2018 Jan;29(1):9-13. doi: 10.1097/ICU.0000000000000446. PMID: 29084004
Vici syndrome: a review.
Byrne S, Dionisi-Vici C, Smith L, Gautel M, Jungbluth H
Orphanet J Rare Dis 2016 Feb 29;11:21. doi: 10.1186/s13023-016-0399-x. PMID: 26927810Free PMC Article

Therapy

Laser in Glaucoma and Ocular Hypertension (LiGHT) Trial: Six-Year Results of Primary Selective Laser Trabeculoplasty versus Eye Drops for the Treatment of Glaucoma and Ocular Hypertension.
Gazzard G, Konstantakopoulou E, Garway-Heath D, Adeleke M, Vickerstaff V, Ambler G, Hunter R, Bunce C, Nathwani N, Barton K; LiGHT Trial Study Group
Ophthalmology 2023 Feb;130(2):139-151. Epub 2022 Sep 17 doi: 10.1016/j.ophtha.2022.09.009. PMID: 36122660
Topical corticosteroids for dry eye.
Liu SH, Saldanha IJ, Abraham AG, Rittiphairoj T, Hauswirth S, Gregory D, Ifantides C, Li T
Cochrane Database Syst Rev 2022 Oct 21;10(10):CD015070. doi: 10.1002/14651858.CD015070.pub2. PMID: 36269562Free PMC Article
Minimally Invasive Glaucoma Surgical Techniques for Open-Angle Glaucoma: An Overview of Cochrane Systematic Reviews and Network Meta-analysis.
Bicket AK, Le JT, Azuara-Blanco A, Gazzard G, Wormald R, Bunce C, Hu K, Jayaram H, King A, Otárola F, Nikita E, Shah A, Stead R, Tóth M, Li T
JAMA Ophthalmol 2021 Sep 1;139(9):983-989. doi: 10.1001/jamaophthalmol.2021.2351. PMID: 34264292Free PMC Article
The Complications of Myopia: A Review and Meta-Analysis.
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
Carotenoids in human nutrition and health.
Eggersdorfer M, Wyss A
Arch Biochem Biophys 2018 Aug 15;652:18-26. Epub 2018 Jun 6 doi: 10.1016/j.abb.2018.06.001. PMID: 29885291

Prognosis

Incidence of and Risk Factors for Cataract in Anterior Uveitis.
Papaliodis GN, Rosner BA, Dreger KA, Fitzgerald TD, Artornsombudh P, Kothari S, Gangaputra SS, Levy-Clarke GA, Nussenblatt RB, Rosenbaum JT, Sen HN, Suhler EB, Thorne JE, Bhatt NP, Foster CS, Jabs DA, Pak CM, Ying GS, Kempen JH; Systemic Immunosuppressive Therapy for Eye Diseases (SITE) Cohort Study Research Group
Am J Ophthalmol 2023 Oct;254:221-232. Epub 2023 Jul 5 doi: 10.1016/j.ajo.2023.06.021. PMID: 37414328Free PMC Article
The association between cataract and incidence of cognitive impairment in older adults: A systematic review and meta-analysis.
Xiong Z, Li X, Yang D, Xiong C, Xu Q, Zhou Q
Behav Brain Res 2023 Jul 26;450:114455. Epub 2023 May 4 doi: 10.1016/j.bbr.2023.114455. PMID: 37148915
The association between cataract and sleep apnea: a nationwide population-based cohort study.
Liu PK, Chang YC, Wang NK, Ryu J, Tsai RK, Hsu SL, Hung JY, Hsu CY, Tai MH, Tsai MJ
J Clin Sleep Med 2022 Mar 1;18(3):769-777. doi: 10.5664/jcsm.9714. PMID: 34633283Free PMC Article
The Complications of Myopia: A Review and Meta-Analysis.
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
Global prevalence of childhood cataract: a systematic review.
Sheeladevi S, Lawrenson JG, Fielder AR, Suttle CM
Eye (Lond) 2016 Sep;30(9):1160-9. Epub 2016 Aug 12 doi: 10.1038/eye.2016.156. PMID: 27518543Free PMC Article

Clinical prediction guides

Laser in Glaucoma and Ocular Hypertension (LiGHT) Trial: Six-Year Results of Primary Selective Laser Trabeculoplasty versus Eye Drops for the Treatment of Glaucoma and Ocular Hypertension.
Gazzard G, Konstantakopoulou E, Garway-Heath D, Adeleke M, Vickerstaff V, Ambler G, Hunter R, Bunce C, Nathwani N, Barton K; LiGHT Trial Study Group
Ophthalmology 2023 Feb;130(2):139-151. Epub 2022 Sep 17 doi: 10.1016/j.ophtha.2022.09.009. PMID: 36122660
Topical corticosteroids for dry eye.
Liu SH, Saldanha IJ, Abraham AG, Rittiphairoj T, Hauswirth S, Gregory D, Ifantides C, Li T
Cochrane Database Syst Rev 2022 Oct 21;10(10):CD015070. doi: 10.1002/14651858.CD015070.pub2. PMID: 36269562Free PMC Article
Metabolic and lifestyle factors in relation to senile cataract: a Mendelian randomization study.
Yuan S, Wolk A, Larsson SC
Sci Rep 2022 Jan 10;12(1):409. doi: 10.1038/s41598-021-04515-x. PMID: 35013517Free PMC Article
Astigmatism evaluation prior to cataract surgery.
Gupta PC, Caty JT
Curr Opin Ophthalmol 2018 Jan;29(1):9-13. doi: 10.1097/ICU.0000000000000446. PMID: 29084004
Nutritional modulation of cataract.
Weikel KA, Garber C, Baburins A, Taylor A
Nutr Rev 2014 Jan;72(1):30-47. Epub 2013 Nov 26 doi: 10.1111/nure.12077. PMID: 24279748Free PMC Article

Recent systematic reviews

Appraising the causal role of smoking in multiple diseases: A systematic review and meta-analysis of Mendelian randomization studies.
Larsson SC, Burgess S
EBioMedicine 2022 Aug;82:104154. Epub 2022 Jul 8 doi: 10.1016/j.ebiom.2022.104154. PMID: 35816897Free PMC Article
Causes of blindness and vision impairment in 2020 and trends over 30 years, and prevalence of avoidable blindness in relation to VISION 2020: the Right to Sight: an analysis for the Global Burden of Disease Study.
GBD 2019 Blindness and Vision Impairment Collaborators; Vision Loss Expert Group of the Global Burden of Disease Study
Lancet Glob Health 2021 Feb;9(2):e144-e160. Epub 2020 Dec 1 doi: 10.1016/S2214-109X(20)30489-7. PMID: 33275949Free PMC Article
The Complications of Myopia: A Review and Meta-Analysis.
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
Global causes of blindness and distance vision impairment 1990-2020: a systematic review and meta-analysis.
Flaxman SR, Bourne RRA, Resnikoff S, Ackland P, Braithwaite T, Cicinelli MV, Das A, Jonas JB, Keeffe J, Kempen JH, Leasher J, Limburg H, Naidoo K, Pesudovs K, Silvester A, Stevens GA, Tahhan N, Wong TY, Taylor HR; Vision Loss Expert Group of the Global Burden of Disease Study
Lancet Glob Health 2017 Dec;5(12):e1221-e1234. Epub 2017 Oct 11 doi: 10.1016/S2214-109X(17)30393-5. PMID: 29032195
Ocular ischemic syndrome - a systematic review.
Terelak-Borys B, Skonieczna K, Grabska-Liberek I
Med Sci Monit 2012 Aug;18(8):RA138-144. doi: 10.12659/msm.883260. PMID: 22847215Free PMC Article

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