U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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 protective role of water intake in age-related eye diseases: insights from a Mendelian randomization study.
Mi Y, Zhu Q, Zheng X, Wan M
Food Funct 2024 May 7;15(9):5147-5157. doi: 10.1039/d4fo01559b. PMID: 38682722
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
Congenital cataracts-facial dysmorphism-neuropathy.
Kalaydjieva L
Orphanet J Rare Dis 2006 Aug 29;1:32. doi: 10.1186/1750-1172-1-32. PMID: 16939648Free PMC Article
Cataract surgery and diabetic retinopathy.
Menchini U, Cappelli S, Virgili G
Semin Ophthalmol 2003 Sep;18(3):103-8. doi: 10.1076/soph.18.3.103.29805. PMID: 15513469
Theoretical and experimental basis for the inhibition of cataract.
Benedek GB, Pande J, Thurston GM, Clark JI
Prog Retin Eye Res 1999 May;18(3):391-402. doi: 10.1016/s1350-9462(98)00023-8. PMID: 10192519

Diagnosis

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
Advances in anterior segment imaging.
Wolffsohn JS, Davies LN
Curr Opin Ophthalmol 2007 Feb;18(1):32-8. doi: 10.1097/ICU.0b013e328011550d. PMID: 17159445
Early ocular and non-ocular indications of diabetes mellitus.
North RV
Ophthalmic Physiol Opt 1998 Mar;18(2):167-72. PMID: 9692038
Coronal adenomas.
Bateman JB, Foos RY
Arch Ophthalmol 1979 Dec;97(12):2379-84. doi: 10.1001/archopht.1979.01020020595020. PMID: 518393

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

'Microincisional trabeculectomy for glaucoma".
Rao A, Khan S, Mukherjee S
PLoS One 2023;18(5):e0286020. Epub 2023 May 19 doi: 10.1371/journal.pone.0286020. PMID: 37205654Free PMC Article
Long-term strabismus outcomes after unilateral infantile cataract surgery in the Infant Aphakia Treatment Study.
Bothun ED, Shainberg MJ, Christiansen SP, Vanderveen DK, Neely DE, Kruger SJ, Cotsonis G, Lambert SR; Infant Aphakic Treatment Study
J AAPOS 2022 Aug;26(4):174.e1-174.e4. Epub 2022 Jul 14 doi: 10.1016/j.jaapos.2022.05.003. PMID: 35843488Free 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
Congenital cataracts-facial dysmorphism-neuropathy.
Kalaydjieva L
Orphanet J Rare Dis 2006 Aug 29;1:32. doi: 10.1186/1750-1172-1-32. PMID: 16939648Free PMC Article
Longterm results of one-site phacotrabeculectomy.
Cagini C, Murdolo P, Gallai R
Acta Ophthalmol Scand 2003 Jun;81(3):233-6. doi: 10.1034/j.1600-0420.2003.00051.x. PMID: 12780400

Clinical prediction guides

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki MS, Ferla M, Tortora D, Sadeghian S, Saadi SM, Abdullah U, Karimiani EG, Efthymiou S, Yeşil G, Alavi S, Al Shamsi AM, Tajsharghi H, Abdel-Hamid MS, Saadi NW, Al Mutairi F, Alabdi L, Beetz C, Ali Z, Toosi MB, Rudnik-Schöneborn S, Babaei M, Isohanni P, Muhammad J, Khan S, Al Shalan M, Hickey SE, Marom D, Elhanan E, Kurian MA, Marafi D, Saberi A, Hamid M, Spaull R, Meng L, Lalani S, Maqbool S, Rahman F, Seeger J, Palculict TB, Lau T, Murphy D, Mencacci NE, Steindl K, Begemann A, Rauch A, Akbas S, Aslanger AD, Salpietro V, Yousaf H, Ben-Shachar S, Ejeskär K, Al Aqeel AI, High FA, Armstrong-Javors AE, Zahraei SM, Seifi T, Zeighami J, Shariati G, Sedaghat A, Asl SN, Shahrooei M, Zifarelli G, Burglen L, Ravelli C, Zschocke J, Schatz UA, Ghavideldarestani M, Kamel WA, Van Esch H, Hackenberg A, Taylor JC, Al-Gazali L, Bauer P, Gleeson JJ, Alkuraya FS, Lupski JR, Galehdari H, Azizimalamiri R, Chung WK, Baig SM, Houlden H, Severino M
Brain 2023 Dec 1;146(12):5031-5043. doi: 10.1093/brain/awad257. PMID: 37517035Free PMC Article
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
Nanoporous Gold Ring-Integrated Photothermal Intraocular Lens for Active Prevention of Posterior Capsular Opacification.
Liu D, Wu Q, Chen W, Chen K, Lin H, Liu F, Xie X, Chen HJ, Chen W
Small 2022 Aug;18(34):e2201098. Epub 2022 Jul 7 doi: 10.1002/smll.202201098. PMID: 35796194
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
Menopausal hormone therapy and women's health: An umbrella review.
Zhang GQ, Chen JL, Luo Y, Mathur MB, Anagnostis P, Nurmatov U, Talibov M, Zhang J, Hawrylowicz CM, Lumsden MA, Critchley H, Sheikh A, Lundbäck B, Lässer C, Kankaanranta H, Lee SH, Nwaru BI
PLoS Med 2021 Aug;18(8):e1003731. Epub 2021 Aug 2 doi: 10.1371/journal.pmed.1003731. PMID: 34339416Free 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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...