Malformations of the anterior segment of the eyeball with microphthalmos in the contralateral eye in a child with the PAX6 gene mutation – case report

Monika Modrzejewska, Wiktoria Bosy, Patrycja Woźniak


Introduction: The aim of this article is to present a congenital ophthalmic defect with microphthalmos in the ontralateral eye and discuss causative factors with emphasis on limited treatment options of this genetic anomaly, which is responsible for approx. 10% of causes of innate blindness in pediatric patients.
Materials and methods: Clinical presentation of a 1-year-old child with diagnosed mesodermal disgenesis of the cornea in both eyes, with concomitant microphthalmos, optic nerve hypoplasia, and persistent hyperplastic primary vitreous in the left eye, treated with epikeratoprosthesis. Aniridia and buphthalmos of the right eye.
Results: Following the thorough diagnostic process of microphthalmos, the deletion PAX6 gene mutation, as well as congenital heart defect (atrial septum defect type II and patent foramen ovale ASD II/PFO), were confirmed. Other abnormalities were excluded. Furthermore, the interstitial heterozygous deletion of exons 8, 9, and 10 in the 11p13 exon of the PAX6 gene was confirmed in mother of a child. During pregnancy, the mother was suffering from hypothyroidism as well.
Conclusions: Continous ophthalmic screening in newborns and infants are of utmost importance in the early detection of congenital malformations of an eyeball. Despite being fairly common in comparison to other innate eyeball anomalies, microphthalmos remains a challenge in successful treatment focused on the improvement of vision. Due to the common co-occurrence of microphthalmos or anophthalmos and craniofacial abnormalities or axial skeleton defects, a crucial role is played by the cooperation between ophthalmologists and other pediatric specialists, including geneticists.


microphthalmos; anophthalmos; aniridia; deletion of the PAX6 gene; congenital eyeball malformations

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