Abstract

Microphthalmos with orbital cyst is a rare congenital abnormality of fetal fissure closure leading to a small eyeball associated with an orbital cyst. In this case series, we describe six such cases and discuss the clinical features, differential diagnosis, diagnostic modalities, and management in accordance with the existing literature. Out of the six cases, four were male and two were females. All the cases presented with a swelling in the lower eyelid of the involved eye, which was the right eye in all the male patients and the left eye in all the female cases. Other eye showed uveal coloboma in 50% of the cases. Microphthalmos with orbital cyst was diagnosed based on the clinical features and radiological findings (ultrasonography B-scan and/or Computed Tomography scan). Two patients from our case series underwent surgery (cyst excision with enucleation of microphthalmic eye with orbital implant and conformer) and, histopathology confirmed the diagnosis of microphthalmos with orbital cyst. Microphthalmos with orbital cyst presents as a swelling of the lower eyelid since birth in which a careful examination often reveals a microphthalmic eye. Two such cases in our case series were managed with orbital cyst excision and enucleation of microphthalmic eye followed by orbital implant and conformer, leading to good cosmetic results.

Highlights

  • Congenital microphthalmos is a rare en ty with a reported prevalence of 1.4-3.5 per 10000 live births.[1]

  • Microphthalmos associated with an orbital cyst is even rarer with only few case reports and case series been reported in the literature since it was first described by Arl n 1858.3

  • Orbital cysts related to microphthalmia have been categorized by Duke-Elder into three types: small, not apparent cyst with a compara vely normal eye; apparent cyst related to a grossly malformed eye; large cyst pushing the globe backward resul ng in a clinically unno ceable globe.[5]

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Summary

INTRODUCTION

Congenital microphthalmos is a rare en ty with a reported prevalence of 1.4-3.5 per 10000 live births.[1]. Microphthalmos associated with an orbital cyst is even rarer with only few case reports and case series been reported in the literature since it was first described by Arl n 1858.3. Microphthalmos with cyst was present in the right eye of all four males whereas it was present in the le eye of both the females in our case series. B-scan ultrasonography was done for all cases, which demonstrated a large cyst in the inferior and anterior part of the orbital cavity of the involved eye. CT scan revealed a large cys c mass in the inferior orbit with a microphthalmic eye in the superior part of the orbit in all the cases (Figure 3). M: Male; F: Female; RE: Right eye; LE: Le eye Figure 3: CT scan reveals a large orbital cyst associated with microphthalmos in cases 4,5 and 6. Postopera ve appearance a er six weeks was acceptable (Figure 5)

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