Molecular Vision: Neri, Mol Vis 2012; 18:2623-2632. Appendix 1. Comparison of the main characteristics of the cases of posterior microphthalmos and retinitis pigmentosa associated with MFRP mutations (review of the literature).

Appendix 1. Comparison of the main characteristics of the cases of posterior microphthalmos and retinitis pigmentosa associated with MFRP mutations (review of the literature).

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 [6] were not included in this table because no clinical sign of retinal degeneration was reported.