Dr.Dipankar Das, D08987
Aim: To present an interesting case of metachondromatosis with a focal retinal pigment epithelial defect in the right eye.
Method: A case presentation
Results: An 11 years old female child from north-east India presented to outpatient department with dimness of vision in the right eye (OD) for one month. There was history of trauma in that eye earlier with resolved vitreous hemorrhage diagnosed elsewhere one month back. On examination, vision in OD was 6/24 with pinhole improving to 6/18. There was no RAPD and anterior chamber was quiet. Fundus examination revealed RPE atrophy in the OD. Systemic examination revealed multiple osteomas in the body. There was no gastrointestinal problem. CT scan of whole revealed multiple exostoses and the diagnosed as metachondromatosis. MRI brain was normal. Patient was consulted with orthopaedic surgeon subsequently.
Conclusion: Metachondromatosis is a rare entity and RPE atrophy in the fundus was exceptional.
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