People with nonsyndromic congenital retinal nonattachment (NCRNA) are blind from birth. The authors show that NCRNA is caused by a deletion spanning a remote cis regulatory element upstream from ATOH7 (Math5), a transcription factor gene required for retinal development. The deleted region is a conserved secondary transcriptional enhancer of ATOH7.
- Noor M Ghiasvand
- Dellaney D Rudolph
- Tom Glaser
