Appendix 1 of Neri, Mol Vis 2012; 18:2623-2632.
To access the data, click or select the words “Appendix 1.” This will initiate the download of a compressed (pdf) archive that contains the file. BCVA: best-corrected visual acuity; ONH: optic nerve head. BE: both eyes. RE: right eye. LE: left eye. NLP: no light perception. HM: hand motion. RPE: retinal pigmented epithelium. RP: retinitis pigmentosa. ERG: electroretinogram. n.r.: not reported in the source paper. * this frameshift mutation shortens a set of 7 consecutive cytosines running from position 492 to 498 in exon 5 and has been named alternatively c.492delC or c.498delC in previous publications. Other two cases sharing mutation c.492delC in compound heterozygosis with a different MFRP mutation  were not included in this table because no clinical sign of retinal degeneration was reported.