Literature DB >> 26918094

Ultrasound prenatal diagnosis of congenital primary aphakia: case report.

Filippo Di Meglio1, Carmine Vascone2, Letizia Di Meglio3, Luigi Carlo Lo Turco4, Salvatore Giovanni Vitale5, Pietro Cignini6, Gaetano Valenti5, Ferdinando Antonio Gulino5, Agnese Maria Chiara Rapisarda5, Stefano Cianci5.   

Abstract

INTRODUCTION: the ultrasound prenatal diagnosis of aphakia is a difficult diagnosis and often requires a genetic study of the karyotype. CASE REPORT: we present a rare case of prenatal bilateral aphakia, confirmed after bird. The patient was observed by ultrasound during the 23rd week of pregnancy. Through transabdominal ultrasound the lens could not be visualized bilaterally. The remaining anathomy, explorable by ultrasound, was still regular. When aphakia is suspected, genetic counseling is essential.
CONCLUSION: a differential diagnosis between aphakia and anophtalmia is necessary. A TORCH complex evaluation can be useful. Amniocentesis is always required.

Entities:  

Keywords:  anterior segment of the eye; congenital aphakia; lens; prenatal diagnosis; ultrasound

Year:  2015        PMID: 26918094      PMCID: PMC4747566          DOI: 10.11138/jpm/2015.9.1.016

Source DB:  PubMed          Journal:  J Prenat Med        ISSN: 1971-3282


  4 in total

1.  Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans.

Authors:  Sophie Valleix; Florence Niel; Brigitte Nedelec; Marie-Paule Algros; Claire Schwartz; Bernard Delbosc; Marc Delpech; Bernadette Kantelip
Journal:  Am J Hum Genet       Date:  2006-06-08       Impact factor: 11.025

Review 2.  Anterior segment development relevant to glaucoma.

Authors:  Douglas B Gould; Richard S Smith; Simon W M John
Journal:  Int J Dev Biol       Date:  2004       Impact factor: 2.203

3.  Primary congenital aphakia and the rubella syndrome.

Authors:  C Vermeif-Keers
Journal:  Teratology       Date:  1975-06

4.  Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma.

Authors:  Manir Ali; Beatriz Buentello-Volante; Martin McKibbin; J Alberto Rocha-Medina; Narcis Fernandez-Fuentes; Wilson Koga-Nakamura; Aruna Ashiq; Kamron Khan; Adam P Booth; Grange Williams; Yasmin Raashid; Hussain Jafri; Aine Rice; Chris F Inglehearn; Juan Carlos Zenteno
Journal:  Mol Vis       Date:  2010-06-23       Impact factor: 2.367

  4 in total
  1 in total

1.  CUGC for congenital primary aphakia.

Authors:  Hajrah Sarkar; William Moore; Bart P Leroy; Mariya Moosajee
Journal:  Eur J Hum Genet       Date:  2018-05-16       Impact factor: 4.246

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.