Ultrasound prenatal diagnosis of congenital primary aphakia: case report

Filippo Di Meglio; Carmine Vascone; Letizia Di Meglio; Luigi Carlo Lo Turco; Salvatore Giovanni Vitale; Pietro Cignini; Gaetano Valenti; Ferdinando Antonio Gulino; Agnese Maria Chiara Rapisarda; Stefano Cianci

doi:10.11138/jpm/2015.9.1.016

Ultrasound prenatal diagnosis of congenital primary aphakia: case report

J Prenat Med. 2015 Jan-Jun;9(1-2):16-7. doi: 10.11138/jpm/2015.9.1.016.

Affiliations

¹ Department of Ginecological-Obstetrical Sciences and Urological Sciences, "Sapienza" University of Rome, Rome, Italy.
² Department of Woman, Child and General and Specialistics Surgery, II University of Naples, Naples, Italy.
³ Clinical Department of Ginecology and Obstetrics of Physiopathology Reproduction, "Federico II" University of Naples, Naples, Italy.
⁴ Clinical Department for the Woman's Health and Protection, Newborning life, Child and Adolescent. Catholic University of "Sacro Cuore", "Agostino Gemelli" Polyclinic of Rome, Rome, Italy.
⁵ Department of General Surgery and Medical Surgical Specialties, University of Catania, Catania, Italy.
⁶ Department of Gynecologic Ultrasound Imaging, Altamedica Fetal Maternal Medical Centre, Rome, Italy.

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.

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

Publication types

Case Reports