Purpose

MCA/MR (Cohen syndrome) is a multiple congenital anomalies retardation syndrome with autosomal recessive inheritance. The clinical criteria are nonspecific. The diagnosis was based on the triad: hypotonia, truncal obesity and prominent central incisors. Added to the clinical spectrum ophthalmologic findings such as antymongoloid eye slant and retinal changes, are very important to diagnosis.

Material and methods

The authors present a case of 11-year-old boy with MCA/MR.

Results

In this patient we found decreased visual acuity, myopia and retinal abnormalities.

Conclusions

Cohen syndrome is a congenital anomaly with general and ophthalmological findings.