Case Report: A Rare Form of Suspect Megalocornea Mental Retardation Syndrome

1. Liana Ekowati
2. Norma Djoko Handojo

Department of Ophthalmology, Diponegoro University, Kariadi Hospital Semarang, Indonesia

Purpose: To report bilateral megalocornea congenital due to suspect Megalocornea- Mental Retardation Syndrome (MMRS) in a 4 month boy.

Methods: Case report. This patient was sent by department of paediatric with developmental delayed and congenital hipotony. We have did ophthalmologic examinations and others clinical features.

Result: We detected bilateral megalocornea (diameter 13 mm) in his eyes. Other sign and symptoms are limbus sharply demarcated, anterior chamber depth increase, iridodenesis, lens-iris diaphragm positioned posteriorly, intraocular pressure normal. and no optic disc cupping disc.

Conclusion: Megalocornea is usually seen as an isolated finding, but it may be associated with other ocular and systemic findings. Megalocornea-Mental Retardaton Syndrome is an extremely rare genetic disorder characterized by distinctive abnormalities of the eyes, congenital hypotonia, and varying degrees of mental retardation. In some cases, additional abnormalities may also be present. The range and severity of symptoms and physical findings may vary from case to case.