Purpose:
Posterior microphthalmia is a sporadic or inherited developmental ocular anomaly that may occur isolated or in association with multiple ocular and systemic anomalies. This report documents a case of posterior microphthalmia with atypical presentation including white dots in the posterior pole in addition to systemic anomalies including facial defect that can represent an underlying genetic mutation.
Method:
Case report.
Results:
A 29-year-old male with high hyperopia and history of bilateral clear lens presented with pigmentary changes and white-yellow dots in the posterior pole in both eyes. Patient had a history of cleft lip repair. A complete ocular evaluation including A/B scan and optical coherence tomography confirmed the diagnosis of posterior microphthalmia with a retinitis pigmentosa like fundus and drusen deposits in the subretinal pigment epithelium.
Conclusion:
The white-yellow drusenoid deposits in the posterior pole in association with posterior microphthalmia are poorly documented in the literature. Cases of craniofacial developmental defects in association with posterior microphthalmia may represent a genetic defect.