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Congenital Bilateral Cataracts

MedGen UID:
478689
•Concept ID:
C3277059
•
Disease or Syndrome
Synonyms: Cataract, bilateral congenital; Congenital bilateral cataract; Congenital cataract, bilateral; Congenital cataracts, bilateral

Definition

Cataract in both eyes that are present at birth. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital Bilateral Cataracts

Professional guidelines

PubMed

Prenatal Diagnosis of the Unique Combination of Bilateral Congenital Cataracts With Strabismus.
Sampson R, Davis SC, Allen LM
J Ultrasound Med 2024 Apr;43(4):815-819. Epub 2024 Jan 2 doi: 10.1002/jum.16404. PMID: 38164881
Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis.
Song E, Luo N, Alvarado JA, Lim M, Walnuss C, Neely D, Spandau D, Ghaffarieh A, Sun Y
Sci Rep 2017 May 4;7(1):1442. doi: 10.1038/s41598-017-01447-3. PMID: 28473699Free PMC Article
Diagnosis and management of cataracts in infancy and childhood.
Nelson LB
Ophthalmic Surg 1984 Aug;15(8):688-97. PMID: 6384869

Recent clinical studies

Etiology

A Brief Period of Postnatal Visual Deprivation Alters the Balance between Auditory and Visual Attention.
de Heering A, Dormal G, Pelland M, Lewis T, Maurer D, Collignon O
Curr Biol 2016 Nov 21;26(22):3101-3105. Epub 2016 Nov 10 doi: 10.1016/j.cub.2016.10.014. PMID: 27839972
The neural basis of lip-reading capabilities is altered by early visual deprivation.
Putzar L, Goerendt I, Heed T, Richard G, Büchel C, Röder B
Neuropsychologia 2010 Jun;48(7):2158-66. Epub 2010 Apr 10 doi: 10.1016/j.neuropsychologia.2010.04.007. PMID: 20385153
The critical period for surgical treatment of dense congenital bilateral cataracts.
Birch EE, Cheng C, Stager DR Jr, Weakley DR Jr, Stager DR Sr
J AAPOS 2009 Feb;13(1):67-71. Epub 2008 Dec 12 doi: 10.1016/j.jaapos.2008.07.010. PMID: 19084444Free PMC Article
Changes in visual acuity from 4 to 12 years of age in children operated for bilateral congenital cataracts.
Magnusson G, Abrahamsson M, Sjöstrand J
Br J Ophthalmol 2002 Dec;86(12):1385-9. doi: 10.1136/bjo.86.12.1385. PMID: 12446371Free PMC Article
Early treatment of congenital unilateral cataract minimizes unequal competition.
Birch EE, Stager D, Leffler J, Weakley D
Invest Ophthalmol Vis Sci 1998 Aug;39(9):1560-6. PMID: 9699545

Diagnosis

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
Sengers syndrome: a rare case of cardiomyopathy combined with congenital cataracts in an infant: post-mortem case report.
Fnon NF, Hassan HH, Ali HM, Sobh ZK
Cardiovasc Pathol 2021 Sep-Oct;54:107371. Epub 2021 Jul 16 doi: 10.1016/j.carpath.2021.107371. PMID: 34274418
Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease-Report of New Cases.
Celma Nos F, Hernández G, Ferrer-Cortès X, Hernandez-Rodriguez I, Navarro-Almenzar B, Fuster JL, Bermúdez Cortés M, Pérez-Montero S, Tornador C, Sanchez M
Int J Mol Sci 2021 May 21;22(11) doi: 10.3390/ijms22115451. PMID: 34064225Free PMC Article
Lowe syndrome - Old and new evidence of secondary mitochondrial dysfunction.
Dumic KK, Anticevic D, Petrinovic-Doresic J, Zigman T, Zarković K, Rokic F, Vugrek O
Eur J Med Genet 2020 Oct;63(10):104022. Epub 2020 Jul 23 doi: 10.1016/j.ejmg.2020.104022. PMID: 32712215
Changes in visual acuity from 4 to 12 years of age in children operated for bilateral congenital cataracts.
Magnusson G, Abrahamsson M, Sjöstrand J
Br J Ophthalmol 2002 Dec;86(12):1385-9. doi: 10.1136/bjo.86.12.1385. PMID: 12446371Free PMC Article

Therapy

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
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report.
Fecarotta S, Gragnaniello V, Della Casa R, Romano A, Raiano E, Torella A, Savarese M, Nigro V, Strisciuglio P, Andria G, Parenti G
Neuromuscul Disord 2018 Nov;28(11):956-960. Epub 2018 Jul 19 doi: 10.1016/j.nmd.2018.07.001. PMID: 30126629

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
A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome.
Inui T, Anzai M, Takezawa Y, Endo W, Kakisaka Y, Kikuchi A, Onuma A, Kure S, Nishino I, Ohba C, Saitsu H, Matsumoto N, Haginoya K
J Hum Genet 2017 Jun;62(6):653-655. Epub 2017 Feb 2 doi: 10.1038/jhg.2017.11. PMID: 28148925
A Brief Period of Postnatal Visual Deprivation Alters the Balance between Auditory and Visual Attention.
de Heering A, Dormal G, Pelland M, Lewis T, Maurer D, Collignon O
Curr Biol 2016 Nov 21;26(22):3101-3105. Epub 2016 Nov 10 doi: 10.1016/j.cub.2016.10.014. PMID: 27839972
The critical period for surgical treatment of dense congenital bilateral cataracts.
Birch EE, Cheng C, Stager DR Jr, Weakley DR Jr, Stager DR Sr
J AAPOS 2009 Feb;13(1):67-71. Epub 2008 Dec 12 doi: 10.1016/j.jaapos.2008.07.010. PMID: 19084444Free PMC Article
Early treatment of congenital unilateral cataract minimizes unequal competition.
Birch EE, Stager D, Leffler J, Weakley D
Invest Ophthalmol Vis Sci 1998 Aug;39(9):1560-6. PMID: 9699545

Clinical prediction guides

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
Sengers syndrome: a rare case of cardiomyopathy combined with congenital cataracts in an infant: post-mortem case report.
Fnon NF, Hassan HH, Ali HM, Sobh ZK
Cardiovasc Pathol 2021 Sep-Oct;54:107371. Epub 2021 Jul 16 doi: 10.1016/j.carpath.2021.107371. PMID: 34274418
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report.
Fecarotta S, Gragnaniello V, Della Casa R, Romano A, Raiano E, Torella A, Savarese M, Nigro V, Strisciuglio P, Andria G, Parenti G
Neuromuscul Disord 2018 Nov;28(11):956-960. Epub 2018 Jul 19 doi: 10.1016/j.nmd.2018.07.001. PMID: 30126629
A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome.
Inui T, Anzai M, Takezawa Y, Endo W, Kakisaka Y, Kikuchi A, Onuma A, Kure S, Nishino I, Ohba C, Saitsu H, Matsumoto N, Haginoya K
J Hum Genet 2017 Jun;62(6):653-655. Epub 2017 Feb 2 doi: 10.1038/jhg.2017.11. PMID: 28148925
A Brief Period of Postnatal Visual Deprivation Alters the Balance between Auditory and Visual Attention.
de Heering A, Dormal G, Pelland M, Lewis T, Maurer D, Collignon O
Curr Biol 2016 Nov 21;26(22):3101-3105. Epub 2016 Nov 10 doi: 10.1016/j.cub.2016.10.014. PMID: 27839972

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