The authors reported a 41-year-old female patient with EEM (ectodermal 
dysplasia, ectrodactyly and macular dystrophy) syndrome with hypotrichosis, 
teeth anomaly, split hand complex and retinal changes with prominent 
pigmentations located in the posterior pole of the retina. Retinal degeneration 
had shown minimal progression during 11 years. A longer follow-up period was 
necessary to make a definite diagnosis of these fundus changes. This is an 
isolated case born from a consanguineous marriage.