NTN1 and Chorioretinal coloboma: Through screening of MAC patients in the Genomics England (GEL) 100 000 Genomes Project (GE100KGP) dataset, we have identified a novel heterozygous de novo NTN1 missense mutation NM_004822.3:c.1483T>A p.(Tyr495Asn) in a patient presenting with unilateral left microcornea and chorioretinal coloboma, bilateral sensorineural hearing loss (SNHL) and right hand polydactyly.