A Case of Microcephaly with Congenital Retinal Detachment

Microcephaly can occur with autosomal dominant or autosomal recessive inherited pattern in a family, but more commonly it is a form of many syndromes that lead to intellectual impairment. Several reports of ocular anomalies accompanied with microcephaly vary from microphthalmia, nystagmus, cataracts, falciform retinal folds, retinal dysplasia, optic disc coloboma and optic atrophy to chorioretinal degeneration have been documented. In this report, the patient hospitalized for intrauterine growth restriction and microcephaly was diagnosed with congenital retinal detachment on fundus examination incidentally and whose result of chromosomal microarray analysis revealed about 1.4 Mb of duplication at Yq11.23 that is irrelevant with clinical symptom. The result of whole exome sequencing was not significant, either. So by enrolling the patient’s genetic information obtained through whole genome sequencing and clinical feature to the national bio big data, we plan to research on genetic disease in comparison with genetic information of similar cases continuously. The authors experienced a case of congenital retinal detachment accompanied by microcephaly without family history and regardless of congenital viral infection, this has not been reported until now.