A novel mutation in CNNM4 is associated with a case of Jalili syndrome in Egypt

To the best of our knowledge, this is the first report of Jalili syndrome in Egypt. We are reporting a novel mutation in CNMM4 gene. We are also expanding the clinical spectrum of dental manifestation by reporting early eruption of the first permanent molars and suggesting that hyperopia could be a rather constant feature of JS. This case emphasizes the importance of comprehensive multidisciplinary assessment beyond visual complaints in IRD patients in order to reach an accurate diagnosis.