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Bilateral cataracts

MedGen UID:
99274
•Concept ID:
C0521707
•
Disease or Syndrome
Synonyms: Bilateral cataract; Cataract, bilateral
SNOMED CT: Bilateral cataracts (95722004); Cataracts (95722004)

Definition

Partial or complete opacity of the crystalline lens of both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.) [from NCI]

Professional guidelines

PubMed

Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi E, Clayton-Smith J, Douzgou S, Ramsden SC, Ingram S, Hall G, Hardcastle CL, Fletcher TA, Taylor RL, Ellingford JM, Newman WD, Fenerty C, Sharma V, Lloyd IC, Biswas S, Ashworth JL, Black GC, Sergouniotis PI
Genet Med 2020 Apr;22(4):745-751. Epub 2019 Dec 18 doi: 10.1038/s41436-019-0722-8. PMID: 31848469Free PMC Article
Global Practice Patterns in the Management of Infantile Cataracts.
Koo EB, VanderVeen DK, Lambert SR
Eye Contact Lens 2018 Nov;44 Suppl 2(Suppl 2):S292-S296. doi: 10.1097/ICL.0000000000000461. PMID: 29369235Free PMC Article
Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX).
Salen G, Steiner RD
J Inherit Metab Dis 2017 Nov;40(6):771-781. Epub 2017 Oct 4 doi: 10.1007/s10545-017-0093-8. PMID: 28980151

Recent clinical studies

Etiology

Trifocal intraocular lenses versus bifocal intraocular lenses after cataract extraction among participants with presbyopia.
Zamora-de La Cruz D, Bartlett J, Gutierrez M, Ng SM
Cochrane Database Syst Rev 2023 Jan 27;1(1):CD012648. doi: 10.1002/14651858.CD012648.pub3. PMID: 36705482Free PMC Article
Outcomes of Bilateral Congenital and Developmental Cataracts Following IOL Implantation in Preschool Children.
Xiao W, Song Z, Wang M
J Pediatr Ophthalmol Strabismus 2021 May-Jun;58(3):180-187. Epub 2021 May 1 doi: 10.3928/01913913-20210108-03. PMID: 34039155
Childhood cataracts.
Chia WL, Martin F
Clin Exp Ophthalmol 2001 Apr;29(2):75-80. PMID: 11341450
Werner's syndrome.
Duvic M, Lemak NA
Dermatol Clin 1995 Jan;13(1):163-8. PMID: 7712642
The peroxisome and the eye.
Folz SJ, Trobe JD
Surv Ophthalmol 1991 Mar-Apr;35(5):353-68. doi: 10.1016/0039-6257(91)90185-i. PMID: 1710072

Diagnosis

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
Fall risk in patients with pseudophakic monovision.
Rosenblatt TR, Vail D, Ludwig CA, Al-Moujahed A, Pasricha MV, Ji MH, Callaway NF, Moshfeghi DM
Can J Ophthalmol 2023 Feb;58(1):11-17. Epub 2021 Aug 20 doi: 10.1016/j.jcjo.2021.07.010. PMID: 34419423
Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX).
Salen G, Steiner RD
J Inherit Metab Dis 2017 Nov;40(6):771-781. Epub 2017 Oct 4 doi: 10.1007/s10545-017-0093-8. PMID: 28980151
Conradi-Hünermann-Happle syndrome.
Hartman RD, Molho-Pessach V, Schaffer JV
Dermatol Online J 2010 Nov 15;16(11):4. PMID: 21163155
Childhood cataracts.
Chia WL, Martin F
Clin Exp Ophthalmol 2001 Apr;29(2):75-80. PMID: 11341450

Therapy

Trifocal intraocular lenses versus bifocal intraocular lenses after cataract extraction among participants with presbyopia.
Zamora-de La Cruz D, Bartlett J, Gutierrez M, Ng SM
Cochrane Database Syst Rev 2023 Jan 27;1(1):CD012648. doi: 10.1002/14651858.CD012648.pub3. PMID: 36705482Free PMC Article
Congenital bilateral cataracts in newborns exposed to elexacaftor-tezacaftor-ivacaftor in utero and while breast feeding.
Jain R, Wolf A, Molad M, Taylor-Cousar J, Esther CR Jr, Shteinberg M
J Cyst Fibros 2022 Nov;21(6):1074-1076. Epub 2022 Oct 18 doi: 10.1016/j.jcf.2022.10.004. PMID: 36266182
Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX).
Salen G, Steiner RD
J Inherit Metab Dis 2017 Nov;40(6):771-781. Epub 2017 Oct 4 doi: 10.1007/s10545-017-0093-8. PMID: 28980151
Conradi-Hünermann-Happle syndrome.
Hartman RD, Molho-Pessach V, Schaffer JV
Dermatol Online J 2010 Nov 15;16(11):4. PMID: 21163155
Hypocalcemic cataract.
Stein R, Godel V
J Pediatr Ophthalmol Strabismus 1980 May-Jun;17(3):159-61. doi: 10.3928/0191-3913-19800501-08. PMID: 6993651

Prognosis

Recalibrating vision-for-action requires years after sight restoration from congenital cataracts.
Senna I, Piller S, Ben-Zion I, Ernst MO
Elife 2022 Oct 24;11 doi: 10.7554/eLife.78734. PMID: 36278872Free PMC Article
Outcomes of Bilateral Congenital and Developmental Cataracts Following IOL Implantation in Preschool Children.
Xiao W, Song Z, Wang M
J Pediatr Ophthalmol Strabismus 2021 May-Jun;58(3):180-187. Epub 2021 May 1 doi: 10.3928/01913913-20210108-03. PMID: 34039155
Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX).
Salen G, Steiner RD
J Inherit Metab Dis 2017 Nov;40(6):771-781. Epub 2017 Oct 4 doi: 10.1007/s10545-017-0093-8. PMID: 28980151
Childhood cataracts.
Chia WL, Martin F
Clin Exp Ophthalmol 2001 Apr;29(2):75-80. PMID: 11341450
Infantile cataracts.
Lambert SR, Drack AV
Surv Ophthalmol 1996 May-Jun;40(6):427-58. doi: 10.1016/s0039-6257(96)82011-x. PMID: 8724637

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
White matter plasticity following cataract surgery in congenitally blind patients.
Pedersini CA, Miller NP, Gandhi TK, Gilad-Gutnick S, Mahajan V, Sinha P, Rokers B
Proc Natl Acad Sci U S A 2023 May 9;120(19):e2207025120. Epub 2023 May 1 doi: 10.1073/pnas.2207025120. PMID: 37126677Free PMC Article
Trifocal intraocular lenses versus bifocal intraocular lenses after cataract extraction among participants with presbyopia.
Zamora-de La Cruz D, Bartlett J, Gutierrez M, Ng SM
Cochrane Database Syst Rev 2023 Jan 27;1(1):CD012648. doi: 10.1002/14651858.CD012648.pub3. PMID: 36705482Free PMC Article
Recalibrating vision-for-action requires years after sight restoration from congenital cataracts.
Senna I, Piller S, Ben-Zion I, Ernst MO
Elife 2022 Oct 24;11 doi: 10.7554/eLife.78734. PMID: 36278872Free PMC Article
Visual Rehabilitation in Pediatric Aphakia.
Repka MX
Dev Ophthalmol 2016;57:49-68. Epub 2016 Apr 1 doi: 10.1159/000442501. PMID: 27043392

Recent systematic reviews

An atypical Aymé-Gripp phenotype detected by exome sequencing.
Caiazza M, Budillon A, Monda E, Aruta G, Esposito A, Del Vecchio Blanco F, Piluso G, Nigro V, Scarano G, Limongelli G
Am J Med Genet A 2024 Jan;194(1):70-76. Epub 2023 Sep 15 doi: 10.1002/ajmg.a.63406. PMID: 37712597
Trifocal intraocular lenses versus bifocal intraocular lenses after cataract extraction among participants with presbyopia.
Zamora-de La Cruz D, Bartlett J, Gutierrez M, Ng SM
Cochrane Database Syst Rev 2023 Jan 27;1(1):CD012648. doi: 10.1002/14651858.CD012648.pub3. PMID: 36705482Free PMC Article
Trifocal intraocular lenses versus bifocal intraocular lenses after cataract extraction among participants with presbyopia.
Zamora-de La Cruz D, Zúñiga-Posselt K, Bartlett J, Gutierrez M, Abariga SA
Cochrane Database Syst Rev 2020 Jun 18;6(6):CD012648. doi: 10.1002/14651858.CD012648.pub2. PMID: 32584432Free PMC Article
The clinical effectiveness and cost-effectiveness of second-eye cataract surgery: a systematic review and economic evaluation.
Frampton G, Harris P, Cooper K, Lotery A, Shepherd J
Health Technol Assess 2014 Nov;18(68):1-205, v-vi. doi: 10.3310/hta18680. PMID: 25405576Free PMC Article
Surgical interventions for bilateral congenital cataract.
Long V, Chen S, Hatt S
Cochrane Database Syst Rev 2006 Jul 19;2006(3):CD003171. doi: 10.1002/14651858.CD003171.pub2. PMID: 16855998Free PMC Article

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