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Congenital primary aphakia.
Ernst J, Medsinge A, Scanga HL, Hiasat J, Moore W, Ali A, Levin AV, Stahl ED, Nischal KK. Ernst J, et al. J AAPOS. 2022 Feb;26(1):4.e1-4.e5. doi: 10.1016/j.jaapos.2021.09.008. Epub 2022 Jan 17. J AAPOS. 2022. PMID: 35051625
PURPOSE: To describe the natural history, management, and visual outcome in children with congenital primary aphakia (CPA). METHODS: This is a multicenter retrospective consecutive case series from five academic centers in England and North America. ...
PURPOSE: To describe the natural history, management, and visual outcome in children with congenital primary aphakia (C …
Primary aphakia: clinical recognition is the key to diagnosis.
Kaushik S, Snehi S, Kaur S, Kaur A, Choudhary S, Thattaruthody F, Pandav SS. Kaushik S, et al. J AAPOS. 2022 Dec;26(6):298.e1-298.e5. doi: 10.1016/j.jaapos.2022.07.012. Epub 2022 Sep 29. J AAPOS. 2022. PMID: 36183996
RESULTS: A total of 124 UBM images were captured for 124 children with cloudy corneas. Twelve children were identified with congenital primary aphakia: 5 had bilateral buphthalmos, 2 had buphthalmos in one eye and microphthalmos in the other, and 5 had bilate …
RESULTS: A total of 124 UBM images were captured for 124 children with cloudy corneas. Twelve children were identified with congenital …
Novel prenatally diagnosed compound heterozygous PXDN variants in fetal congenital primary aphakia and blepharophimosis.
Chou WS, Shiao YM, Chen JS, Tsauer JC, Chang YF, Chiu YH, Hsiao CH. Chou WS, et al. Taiwan J Obstet Gynecol. 2022 May;61(3):510-513. doi: 10.1016/j.tjog.2022.03.019. Taiwan J Obstet Gynecol. 2022. PMID: 35595447 Free article.
OBJECTIVE: To precision survey a fetal congenital primary aphakia molecular etiology. CASE REPORT: A case of 42 years old pregnancy woman prenatal diagnostic examination by amniocentesis conducted at 17 weeks' gestation and demonstrated a normal female karyot …
OBJECTIVE: To precision survey a fetal congenital primary aphakia molecular etiology. CASE REPORT: A case of 42 years o …
Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.
Iseri SU, Osborne RJ, Farrall M, Wyatt AW, Mirza G, Nürnberg G, Kluck C, Herbert H, Martin A, Hussain MS, Collin JR, Lathrop M, Nürnberg P, Ragoussis J, Ragge NK. Iseri SU, et al. Hum Mutat. 2009 Oct;30(10):1378-86. doi: 10.1002/humu.21079. Hum Mutat. 2009. PMID: 19708017
FOXE3 is a lens-specific transcription factor with a highly conserved forkhead domain previously implicated in congenital primary aphakia and anterior segment dysgenesis. Here, we identify new recessive FOXE3 mutations causative for microphthalmia, sclerocorn …
FOXE3 is a lens-specific transcription factor with a highly conserved forkhead domain previously implicated in congenital primary …
Correlation of anterior segment optical coherence tomography and ultrasound biomicroscopy in congenital corneal opacity.
Yangzes S, Kaushik S, Malhotra C, Thakur A, Gupta A, Jain AK, Jinagal J, Pandav SS. Yangzes S, et al. J AAPOS. 2024 Apr;28(2):103863. doi: 10.1016/j.jaapos.2024.103863. Epub 2024 Mar 6. J AAPOS. 2024. PMID: 38458600
Fourteen eyes were diagnosed with Peters anomaly, congenital corneal staphyloma was observed in 4 eyes, 2 eyes had coloboma, 1 eye had peripheral sclerocornea, and 1 eye was diagnosed with congenital primary aphakia. AS-OCT and UBM findings were closely corre …
Fourteen eyes were diagnosed with Peters anomaly, congenital corneal staphyloma was observed in 4 eyes, 2 eyes had coloboma, 1 eye had perip …
Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans.
Valleix S, Niel F, Nedelec B, Algros MP, Schwartz C, Delbosc B, Delpech M, Kantelip B. Valleix S, et al. Am J Hum Genet. 2006 Aug;79(2):358-64. doi: 10.1086/505654. Epub 2006 Jun 8. Am J Hum Genet. 2006. PMID: 16826526 Free PMC article.
Congenital primary aphakia (CPA) is a rare developmental disorder characterized by the absence of lens, the development of which is normally induced during the 4th-5th wk of human embryogenesis. ...
Congenital primary aphakia (CPA) is a rare developmental disorder characterized by the absence of lens, the development …