Abstract
Microphthalmos results from incomplete invagination of the optic vesicle or closure of the embryonic fissure. We present three patients with unilateral congenital microphthalmia with cyst. None of them had vision in the affected eye since birth. There was gradually increasing left eye orbital mass encroaching towards lower fornix and lower eyelid ectropion. On examination and investigations, patients had large orbital cyst with microphthalmia pushing the eyeball superiorly and posteriorly in affected orbit. Microphthalmic globe with cyst was surgically excised and histopathologically studied. Orbital cavity was big enough to occupy the conformer and the prosthetic eye after 6 weeks. Diagnosis was confirmed as large communicating orbital cyst with microphthalmia without systemic association in all the patients. None of the mothers of patients had regular antenatal check up. All the parents had consanguineous marriage. Antenatal check up with ultrasound at 14 to16 weeks of pregnancy is important for genetic counselling. Targeted abdominal ultrasound examination of pregnant women focused on the orbital region of foetus is recommended, in mothers who have children with congenital eye anomalies. Keywords: congenital anomaly; cyst; eye; microphthalmos.
Highlights
CASE REPORTMicrophthalmia with cyst is a rare condition
Two male and one female within age range of 3-24 years diagnosed as unilateral congenital microphthalmia with cyst involving right eye (RE) in one patient and left eye (LE) in two that was surgically removed and histopathologically studied
Patients can suffer from intellectual disability, if the anomaly presents as part of a syndrome
Summary
Diwa Hamal,[1] Prerna Arjyal Kafle,[1] Priza Poudyal,[2] Rohit Saiju,[3] Hony KC,[1] Santosh Kafle[2]
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