Home|Journals|Articles by Year Follow on Twitter| Subscribe to List

Directory for Medical Articles

Open Access

Case Report

SETB. 2010; 44(1): 32-34

Anophtalmia/ microphthalmia, a rare congenital anomaly: A case report

Fatih Bolat, Ali Bülbül, Sinan Uslu, Serdar Cömert, Emrah Can, Asiye Nuhoğlu.

Anophtalmia /microphthalmia is a major but a very rare congenital anomaly of the eye. The frequency is not known exactly but has been reported to be 1-3/10000. In the etiology, chromosomal anomalies, congenital infections and teratogens have been blamed. Here in this case report, we describe a female infant delivered by cesarean section with the 40th week of gestation, born with a birth weight of 3200 gr. Parental consanguinity was not found. During pregnancy, she was not on regular, routine visits and did not have the history of any drug and/or teratogen use. Physical examination revealed multiple congenital anomalies, including microphtalmia of the right eye, anophtalmia of the left eye, hypertelorism, micrognathia and low-set ears. A 2/6 systolic mesocardiac murmur was found. Severe, general hypotonia with decreased tendon reflexes were also detected. Other systems were found to be normal. Right ocular hypoplasia and absence of left bulbus oculi were detected in cranial tomography. Echocardiographic examination showed patent ductus arteriosus of 2.5 mm. Postnatally on the 32nd day, she died because of heart failure and sepsis. We concluded that, any patient with anophtalmia needs to be investigated systematically for other associated anomalies and followed up closely for possible complications with a multidisciplinary approach and genetic counseling should be advised for the future pregnancies.

Key words: Anophtalmia, microphtalmia, congenital heart disease, follow up

Article Language: Turkish English

Full-text options

Full-text Article

American Journal of Research in Medical Sciences


BiblioMed Home
Follow ScopeMed on Twitter
Author Tools
eJPort Journal Hosting
About BiblioMed
License Information
Terms & Conditions
Privacy Policy
Contact Us

The articles in Bibliomed are open access articles licensed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License (https://creativecommons.org/licenses/by-nc-sa/4.0/) which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited.
ScopeMed is a Database Service for Scientific Publications. Copyright © ScopeMed® Information Services.