Congenital Microphthalmia with Orbital Cyst: A Case Series

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.

Figure 1.. (a) Clinical photograph showing left congenital microphthalmia with orbital cyst. (b) Computer tomography (CT) orbit with a large cystic lesion occupying the left inferior orbit displacing the microphthalmic globe superiorly. (c) Inferiorly located large multiloculated cyst in the left orbit. The globe was totally covered by the cyst. (d) Gross: i. Cut surface shows an eyeball callot with attached cyst. Microscopy: ii. Shows cystic lining of tissue with oedematous fibrocollagenous stroma (H&E stainx40). iii. Shows layers of sclera, choroid and retinal layers (H&E stain x10). Impression: suggestive of Micropthalmia with cyst.

Figure 2.. (a) Clinical photograph showing left congenital microphthalmia with orbital cyst. (b) CT orbit of the second patient with a large cystic lesion occupying the left inferior orbit displacing the microphthalmic globe superiorly. (c) Gross: Two fragmented soft tissue were received. Microscopy: i. Shows cystic lining of tissue with oedematous fibro collagenous wall (H&E x40) ii. Shows corneal oedematous stroma (H&E stain x40) iii. Shows neural component mimicking retinal layers (H&E stain x40). Impression: Benign cystic lesion, most consistent with Micropthalmia with cyst.

Figure 3.. (a) Clinical photograph showing right congenital microphthalmia with orbital cyst. (b) Showing CT orbit with a large cystic lesion occupying the right inferior orbit displacing the microphthalmic globe superiorly. (c) Gross: Two fragmented soft tissue were received. Microscopy: i. Shows cystic lining of tissue with oedematous fibrocollagenous wall (H&E x40). ii. Shows edematous corneal stroma. iii. Shows the neural component mimicking retinal layers (H&E stain x10). Impression: Benign cystic lesion, most consistent with micropthalmia with cyst.