The publication of University of Health Sciences Istanbul Sisli Hamidiye Etfal Application and Research Center.


Online article submission system has been turned over to eJManager. We kindly request you to submit your current article or new articles via eJManager system

          VOLUME 44 / ISSUE 1


The Journal is Indexed in


7 - 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.

Keywords: Anophtalmia, microphtalmia, congenital heart disease, follow up

To read full article click


Home Page       Editorial       Editorial Board       Advisory Board       Information for Authors       Contact       Archive

Copyright ® 2011 Sisli Etfal Hastanesi Tıp Bülteni