AN INTRODUCTION TO MICROCEPHALY � LYMPHEDEMA � CHORIORETINOPATHY

Melnick Auditorium

Introduction. Objective. To introduce a rare condition called Microcephaly-Lymphedema- Chorioretinal Dysplasia (MLCRD) Syndrome and determine ophthalmic norms as well as special tests/referrals necessary Case presentation. Background. MLCRD can present as primary (genetic) or secondary (nongenetic). It was first described in 1966 based on a family of five individuals with microcephaly and chorioretinopathy. These five individuals were spread out over four generations. Since then there has been more research and cases presented to help healthcare professionals better evaluate and determine necessary testing and norms for patients presenting with this syndrome. These patients often present with abnormal facial features and variable ophthalmic findings as well as modes of inheritance. Deviation From the Expected. Methods. A comprehensive eye examination was performed with a dilated fundus examination. Pictures of the fundus were obtained. Recommendations for electrodiagnostic testing are still pending as well as medical records release signed for release of MRI/CT scans performed. All of these tests including cardiac evaluation are recommended for patient's presenting with MLCRD. B scan can confirm the chorioretinopathy but was not obtained. Discussion. Results. The patient I observed ophthalmically had chorioretinopathy, retinal sheen disrupted in appearance, and disc pallor. Other findings are pending due to medical record release form return and referrals out for electrodiagnostics. Conclusion. . Conclusions. In patients with MLCRD it is vital that they regularly see their primary care giver/pediatrician, are given a referral to geneticist to confirm diagnosis, referral for electrodiagnostics to determine retinal profile, referral to cardiologist to rule out atrial septal defect, and follow up with a pediatric ophthalmologist or optometrist. This is only a few referrals among many to be discussed. Grants. none